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101 | What is (are) Mabry syndrome ? | Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. People with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Individuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time. Hyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome. Another common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss. The signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above. | growth_hormone_receptor | tissue non-specific type |
102 | How many people are affected by Mabry syndrome ? | Mabry syndrome is likely a rare condition, but its prevalence is unknown. More than 20 cases have been described in the scientific literature. | growth_hormone_receptor | More than 20 |
103 | What are the genetic changes related to Mabry syndrome ? | Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer surface of the cell membrane, ensuring that they are available when needed. Alkaline phosphatase is an example of a protein that is bound to the cell membrane by a GPI anchor. The proteins produced from the PIGV and PIGO genes are involved in piecing together the GPI anchor. After the complete GPI anchor is attached to a protein, the protein produced from the PGAP2 gene adjusts the anchor to enhance the anchor's ability to bind to the cell membrane. Mutations in the PIGV, PIGO, or PGAP2 gene result in the production of an incomplete GPI anchor that cannot attach to proteins or to cell membranes. Proteins lacking a functional GPI anchor cannot bind to the cell membrane and are instead released from the cell. The release of non-GPI anchored alkaline phosphatase elevates the amount of this protein in the blood, causing hyperphosphatasia in people with Mabry syndrome. It is unclear how gene mutations lead to the other features of Mabry syndrome, but these signs and symptoms are likely due to a lack of proper GPI anchoring of proteins. PIGV gene mutations are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases. Mutations in the PIGO and PGAP2 genes are responsible for a small proportion of Mabry syndrome. The remaining affected individuals do not have an identified mutation in any of these three genes; the cause of the condition in these individuals is unknown. | growth_hormone_receptor | PIGV gene mutations |
104 | Is Mabry syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
105 | What are the treatments for Mabry syndrome ? | These resources address the diagnosis or management of Mabry syndrome: - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 2 - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 3 - MedlinePlus Encyclopedia: ALP Isoenzyme Test - MedlinePlus Encyclopedia: ALP--Blood Test - Seattle Children's Hospital: Hirschsprung's Disease--Treatments These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Genetic Testing Registry |
106 | What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations. Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia). Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition. | growth_hormone_receptor | a condition characterized by intellectual disability, behavioral problems, and certain physical features |
107 | How many people are affected by Lujan syndrome ? | Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown. | growth_hormone_receptor | unknown |
108 | What are the genetic changes related to Lujan syndrome ? | Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the MED12 protein. This genetic change alters the structure, and presumably the function, of the MED12 protein. However, it is unclear how the mutation affects development and leads to the cognitive and physical features of Lujan syndrome. | growth_hormone_receptor | a single protein building block (amino acid) in the MED12 protein |
109 | Is Lujan syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | growth_hormone_receptor | in an X-linked recessive pattern |
110 | What are the treatments for Lujan syndrome ? | These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
111 | What is (are) caudal regression syndrome ? | Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals. Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs. Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis). People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function. | growth_hormone_receptor | abnormal twisting |
112 | How many people are affected by caudal regression syndrome ? | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns. | growth_hormone_receptor | 1 in 350 |
113 | What are the genetic changes related to caudal regression syndrome ? | Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is thought that increased blood sugar levels and other metabolic problems related to diabetes may have a harmful effect on a developing fetus, increasing the likelihood of developing caudal regression syndrome. The risks to the fetus are further increased if the mother's diabetes is poorly managed. Caudal regression syndrome also occurs in infants of non-diabetic mothers, so researchers are trying to identify other factors that contribute to the development of this complex disorder. Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The developmental problem is thought to affect the middle layer of embryonic tissue known as the mesoderm. Disruption of normal mesoderm development impairs normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system. Other researchers think that caudal regression syndrome results from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus. Decreased blood flow to these areas is thought to interfere with their development and result in the signs and symptoms of caudal regression syndrome. Some scientists believe that the abnormal development of the mesoderm causes the reduction of blood flow, while other scientists believe that the reduction in blood flow causes the abnormal mesoderm development. Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus. | growth_hormone_receptor | abnormal mesoderm development and decreased blood flow |
114 | Is caudal regression syndrome inherited ? | Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. | growth_hormone_receptor | sporadically |
115 | What are the treatments for caudal regression syndrome ? | These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation |
116 | What is (are) Friedreich ataxia ? | Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear. About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia. | growth_hormone_receptor | a genetic condition that affects the nervous system |
117 | How many people are affected by Friedreich ataxia ? | Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups. | growth_hormone_receptor | 1 in 40,000 |
118 | What are the genetic changes related to Friedreich ataxia ? | Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia. | growth_hormone_receptor | characteristic signs and symptoms |
119 | Is Friedreich ataxia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
120 | What are the treatments for Friedreich ataxia ? | These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy - National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
121 | What is (are) 47,XYY syndrome ? | 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men. A small percentage of males with 47,XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction. | growth_hormone_receptor | an extra copy of the Y chromosome in each of a male's cells |
122 | How many people are affected by 47,XYY syndrome ? | This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day. | growth_hormone_receptor | Five to 10 |
123 | What are the genetic changes related to 47,XYY syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. As a result of the extra Y chromosome, each cell has a total of 47 chromosomes instead of the usual 46. It is unclear why an extra copy of the Y chromosome is associated with tall stature, learning problems, and other features in some boys and men. Some males with 47,XYY syndrome have an extra Y chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism. | growth_hormone_receptor | the presence of an extra copy of the Y chromosome |
124 | Is 47,XYY syndrome inherited ? | Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. 46,XY/47,XYY mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have one X chromosome and one Y chromosome (46,XY), and other cells have one X chromosome and two Y chromosomes (47,XYY). | growth_hormone_receptor | not inherited |
125 | What are the treatments for 47,XYY syndrome ? | These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Association for X and Y Chromosome Variations |
126 | What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with 2-methylbutyryl-CoA dehydrogenase deficiency have inadequate levels of an enzyme that helps process a particular amino acid called isoleucine. Health problems related to 2-methylbutyryl-CoA dehydrogenase deficiency vary widely from severe and life-threatening to mild or absent. Signs and symptoms of this disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and an irritable mood. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision problems, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking. Symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency may be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with this disorder never have any signs or symptoms (asymptomatic). For example, individuals of Hmong ancestry identified with 2-methylbutyryl-CoA dehydrogenase deficiency through newborn screening are usually asymptomatic. | growth_hormone_receptor | asymptomatic |
127 | How many people are affected by 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry. | growth_hormone_receptor | 1 in 250 to 1 in 500 |
128 | What are the genetic changes related to 2-methylbutyryl-CoA dehydrogenase deficiency ? | Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of 2-methylbutyryl-CoA dehydrogenase, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Also, an organic acid called 2-methylbutyrylglycine and related compounds may build up to harmful levels, causing serious health problems. | growth_hormone_receptor | Mutations in the ACADSB gene |
129 | Is 2-methylbutyryl-CoA dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
130 | What are the treatments for 2-methylbutyryl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Baby's First Test - Genetic Testing Registry |
131 | What is (are) X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives. | growth_hormone_receptor | a seizure disorder |
132 | How many people are affected by X-linked infantile spasm syndrome ? | Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes. | growth_hormone_receptor | 1 to 1.6 in 100,000 |
133 | What are the genetic changes related to X-linked infantile spasm syndrome ? | X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to regulate the activity of at least one protein that is critical for normal brain function. Researchers are working to determine how mutations in either of these genes lead to seizures and intellectual disability. Infantile spasms can have nongenetic causes, such as brain malformations, other disorders that affect brain function, or brain damage. In addition, changes in genes that are not located on the X chromosome cause infantile spasms in rare cases. | growth_hormone_receptor | mutations in either the ARX gene or the CDKL5 gene |
134 | Is X-linked infantile spasm syndrome inherited ? | X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause. When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Usually in females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, in some instances, one altered copy of the ARX gene is sufficient because the X chromosome with the normal copy of the ARX gene is turned off through a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Some ARX gene mutations may be associated with skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the ARX gene in most cells of the body. This skewed X-inactivation causes the chromosome with the mutated ARX gene to be expressed in more than half of cells, causing X-linked infantile spasm syndrome. When caused by mutations in the CDKL5 gene, this condition is thought to have an X-linked dominant inheritance pattern. The CDKL5 gene is also located on the X chromosome, making this condition X-linked. The inheritance is dominant because one copy of the altered gene in each cell is sufficient to cause the condition in both males and females. X-linked infantile spasm syndrome caused by CDKL5 gene mutations usually occurs in individuals with no history of the disorder in their family. These mutations likely occur in early embryonic development (called de novo mutations). Because males have only one X chromosome, X-linked dominant disorders are often more severe in males than in females. Male fetuses with CDKL5-related X-linked infantile spasm syndrome may not survive to birth, so more females are diagnosed with the condition. In females, the distribution of active and inactive X chromosomes due to X-inactivation may affect whether a woman develops the condition or the severity of the signs and symptoms. Generally, the larger the proportion of active X chromosomes that contain the mutated CDKL5 gene, the more severe the signs and symptoms of the condition are. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | growth_hormone_receptor | fathers cannot pass X-linked traits to their sons |
135 | What are the treatments for X-linked infantile spasm syndrome ? | These resources address the diagnosis or management of X-linked infantile spasm syndrome: - Child Neurology Foundation - Genetic Testing Registry: Early infantile epileptic encephalopathy 2 - Genetic Testing Registry: West syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Child Neurology Foundation - Genetic Testing Registry |
136 | What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria. People with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other arrhythmias. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia. Complications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition. Wolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), and tuberous sclerosis (a condition that results in the growth of noncancerous tumors in many parts of the body). | growth_hormone_receptor | paroxysmal supraventricular tachycardia |
137 | How many people are affected by Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Only a small fraction of these cases appear to run in families. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is the most frequent cause of this abnormal heart rhythm in the Chinese population, where it is responsible for more than 70 percent of cases. | growth_hormone_receptor | 1 to 3 in 1,000 |
138 | What are the genetic changes related to Wolff-Parkinson-White syndrome ? | Mutations in the PRKAG2 gene cause Wolff-Parkinson-White syndrome. A small percentage of all cases of Wolff-Parkinson-White syndrome are caused by mutations in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the heart (cardiac) muscle. The PRKAG2 gene provides instructions for making a protein that is part of an enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is likely involved in the development of the heart before birth, although its role in this process is unknown. Researchers are uncertain how PRKAG2 mutations lead to the development of Wolff-Parkinson-White syndrome and related heart abnormalities. Research suggests that these mutations alter the activity of AMP-activated protein kinase in the heart, although it is unclear whether the genetic changes overactivate the enzyme or reduce its activity. Studies indicate that changes in AMP-activated protein kinase activity allow a complex sugar called glycogen to build up abnormally within cardiac muscle cells. Other studies have found that altered AMP-activated protein kinase activity is related to changes in the regulation of certain ion channels in the heart. These channels, which transport positively charged atoms (ions) into and out of cardiac muscle cells, play critical roles in maintaining the heart's normal rhythm. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. | growth_hormone_receptor | heart abnormalities |
139 | Is Wolff-Parkinson-White syndrome inherited ? | Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typically has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, a person with familial Wolff-Parkinson-White syndrome has inherited the condition from an affected parent. | growth_hormone_receptor | not inherited |
140 | What are the treatments for Wolff-Parkinson-White syndrome ? | These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
141 | What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability. | growth_hormone_receptor | a disorder that affects development of the limbs, head, and face |
142 | How many people are affected by Greig cephalopolysyndactyly syndrome ? | This condition is very rare; its prevalence is unknown. | growth_hormone_receptor | rare |
143 | What are the genetic changes related to Greig cephalopolysyndactyly syndrome ? | Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome. | growth_hormone_receptor | GLI3 gene |
144 | Is Greig cephalopolysyndactyly syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
145 | What are the treatments for Greig cephalopolysyndactyly syndrome ? | These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery |
146 | What is (are) globozoospermia ? | Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility. | growth_hormone_receptor | a condition that affects only males |
147 | How many people are affected by globozoospermia ? | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. | growth_hormone_receptor | 1 in 65,000 |
148 | What are the genetic changes related to globozoospermia ? | Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein is involved in the development of the acrosome and elongation of the sperm head, which are integral steps in sperm cell maturation. Mutations in the DPY19L2 gene result in a loss of functional DPY19L2 protein. As a result, sperm cells have no acrosome and do not elongate properly. Without an acrosome, the abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to infertility in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics. | growth_hormone_receptor | Mutations in other genes |
149 | Is globozoospermia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
150 | What are the treatments for globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: Assisted Reproductive Technology These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | diagnosis or management |
151 | What is (are) Zellweger spectrum disorder ? | Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild. Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanels) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life. People with NALD or infantile Refsum disease, which are at the less-severe end of the spectrum, have more variable features than those with Zellweger syndrome and usually do not develop signs and symptoms of the disease until late infancy or early childhood. They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. Children with these less-severe conditions often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with NALD survive into childhood, and those with infantile Refsum disease may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder. | growth_hormone_receptor | a group of conditions that have overlapping signs and symptoms |
152 | How many people are affected by Zellweger spectrum disorder ? | Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals. | growth_hormone_receptor | 1 in 50,000 |
153 | What are the genetic changes related to Zellweger spectrum disorder ? | Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. Mutations in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells. NALD and infantile Refsum disease are caused by mutations that allow some peroxisomes to form. Mutations in the PEX1 gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition. | growth_hormone_receptor | each account for a smaller percentage of cases of this condition |
154 | Is Zellweger spectrum disorder inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | autosomal recessive pattern |
155 | What are the treatments for Zellweger spectrum disorder ? | These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Peroxisome biogenesis disorders, Zellweger syndrome spectrum - Genetic Testing Registry: Zellweger syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Peroxisome Biogenesis Disorders |
156 | What is (are) fish-eye disease ? | Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. | growth_hormone_receptor | partial LCAT deficiency |
157 | How many people are affected by fish-eye disease ? | Fish-eye disease is a rare disorder. Approximately 30 cases have been reported in the medical literature. | growth_hormone_receptor | 30 |
158 | What are the genetic changes related to fish-eye disease ? | Fish-eye disease is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). LCAT gene mutations that cause fish-eye disease impair alpha-LCAT activity, reducing the enzyme's ability to attach cholesterol to HDL. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol-containing opacities in the corneas. It is not known why the cholesterol deposits affect only the corneas in this disorder. Mutations that affect both alpha-LCAT activity and beta-LCAT activity lead to a related disorder called complete LCAT deficiency, which involves corneal opacities in combination with features affecting other parts of the body. | growth_hormone_receptor | LCAT gene |
159 | Is fish-eye disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
160 | What are the treatments for fish-eye disease ? | These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Genetic Testing Registry |
161 | What is (are) familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age. In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures called benign infantile convulsions. These seizures usually develop in the first year of life and stop by age 3. When benign infantile convulsions are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign infantile convulsions, some have only familial paroxysmal kinesigenic dyskinesia, and others develop both. | growth_hormone_receptor | a pattern of symptoms called an aura |
162 | How many people are affected by familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females. | growth_hormone_receptor | 1 in 150,000 |
163 | What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). It is thought that PRRT2 gene mutations, which reduce the amount of PRRT2 protein, lead to abnormal neuronal signaling. Altered neuronal activity could underlie the movement problems associated with familial paroxysmal kinesigenic dyskinesia. Not everyone with this condition has a mutation in the PRRT2 gene. When no PRRT2 gene mutations are found, the cause of the condition is unknown. | growth_hormone_receptor | movement problems |
164 | Is familial paroxysmal kinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | growth_hormone_receptor | in an autosomal dominant pattern |
165 | What are the treatments for familial paroxysmal kinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
166 | What is (are) giant axonal neuropathy ? | Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people. As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. | growth_hormone_receptor | inherited condition involving dysfunction of a specific type of protein in nerve cells |
167 | How many people are affected by giant axonal neuropathy ? | Giant axonal neuropathy is a very rare disorder; the incidence is unknown. | growth_hormone_receptor | unknown |
168 | What are the genetic changes related to giant axonal neuropathy ? | Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein. Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction. | growth_hormone_receptor | mutations in the GAN gene |
169 | Is giant axonal neuropathy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
170 | What are the treatments for giant axonal neuropathy ? | These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation |
171 | What is (are) familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition. | growth_hormone_receptor | a condition that affects the joints |
172 | How many people are affected by familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals. | growth_hormone_receptor | 15 to 29 per 100,000 |
173 | What are the genetic changes related to familial osteochondritis dissecans ? | Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature. Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited. | growth_hormone_receptor | not caused by genetic changes and is not inherited |
174 | Is familial osteochondritis dissecans inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | growth_hormone_receptor | This condition is inherited in an autosomal dominant pattern |
175 | What are the treatments for familial osteochondritis dissecans ? | These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Symptoms and Diagnosis |
176 | What is (are) Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking. Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia.Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue). | growth_hormone_receptor | a rare inherited condition |
177 | How many people are affected by Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India. | growth_hormone_receptor | Most affected individuals have been from the Middle East and India |
178 | What are the genetic changes related to Ghosal hematodiaphyseal dysplasia ? | Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, researchers suspect that thromboxane A synthase 1 may also be important for bone remodeling, which is a normal process in which old bone is removed and new bone is created to replace it, and for the production of red blood cells in bone marrow. Mutations in the TBXAS1 gene severely reduce the activity of thromboxane A synthase 1. Studies suggest that a lack of this enzyme's activity may lead to abnormal bone remodeling and fibrosis of the bone marrow. However, the mechanism by which a shortage of thromboxane A synthase 1 activity leads to the particular abnormalities characteristic of Ghosal hematodiaphyseal dysplasia is unclear. | growth_hormone_receptor | mutations in the TBXAS1 gene |
179 | Is Ghosal hematodiaphyseal dysplasia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
180 | What are the treatments for Ghosal hematodiaphyseal dysplasia ? | These resources address the diagnosis or management of Ghosal hematodiaphyseal dysplasia: - Genetic Testing Registry: Ghosal syndrome - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | National Heart, Lung, and Blood Institute |
181 | What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis). The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age. | growth_hormone_receptor | a bleeding disorder |
182 | How many people are affected by Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. | growth_hormone_receptor | 1 in one million |
183 | What are the genetic changes related to Glanzmann thrombasthenia ? | Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding. Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin. Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown. | growth_hormone_receptor | do not have an identified mutation |
184 | Is Glanzmann thrombasthenia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | This condition is inherited in an autosomal recessive pattern |
185 | What are the treatments for Glanzmann thrombasthenia ? | These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | diagnosis or management |
186 | What is (are) fibronectin glomerulopathy ? | Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and proteinuria, respectively). They also have high blood pressure (hypertension). Some affected individuals develop renal tubular acidosis, which occurs when the kidneys are unable to remove enough acid from the body and the blood becomes too acidic. The kidneys of people with fibronectin glomerulopathy have large deposits of the protein fibronectin-1 in structures called glomeruli. These structures are clusters of tiny blood vessels in the kidneys that filter waste products from blood. The waste products are then released in urine. The fibronectin-1 deposits impair the glomeruli's filtration ability. Fifteen to 20 years following the appearance of signs and symptoms, individuals with fibronectin glomerulopathy often develop end-stage renal disease. Affected individuals may receive treatment in the form of a kidney transplant; in some cases, fibronectin glomerulopathy comes back (recurs) following transplantation. | growth_hormone_receptor | a kidney disease |
187 | How many people are affected by fibronectin glomerulopathy ? | Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature. | growth_hormone_receptor | At least 45 |
188 | What are the genetic changes related to fibronectin glomerulopathy ? | Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. During extracellular matrix formation, fibronectin-1 helps individual cells expand (spread) and move (migrate) to cover more space, and it also influences cell shape and maturation (differentiation). FN1 gene mutations lead to production of an abnormal fibronectin-1 protein that gets deposited in the glomeruli of the kidneys, probably as the body attempts to filter it out as waste. Even though there is an abundance of fibronectin-1 in the glomeruli, the extracellular matrix that supports the blood vessels is weak because the altered fibronectin-1 cannot assist in the matrix's continual formation. Without a strong cellular support network, the glomeruli are less able to filter waste. As a result, products that normally are retained by the body, such as protein and blood, get released in the urine, and acids are not properly filtered from the blood. Over time, the kidneys' ability to filter waste decreases until the kidneys can no longer function, resulting in end-stage renal disease. It is estimated that mutations in the FN1 gene are responsible for 40 percent of cases of fibronectin glomerulopathy. The cause of the remaining cases of this condition is unknown. | growth_hormone_receptor | mutations in the FN1 gene |
189 | Is fibronectin glomerulopathy inherited ? | When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who have the altered FN1 gene never develop the condition, a situation known as reduced penetrance. | growth_hormone_receptor | it is inherited in an autosomal dominant pattern |
190 | What are the treatments for fibronectin glomerulopathy ? | These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Genetic Testing Registry |
191 | What is (are) ZAP70-related severe combined immunodeficiency ? | ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections. | growth_hormone_receptor | an inherited disorder that damages the immune system |
192 | How many people are affected by ZAP70-related severe combined immunodeficiency ? | ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000. | growth_hormone_receptor | 20 |
193 | What are the genetic changes related to ZAP70-related severe combined immunodeficiency ? | As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. T cells identify foreign substances and defend the body against infection. The ZAP70 gene is important for the development and function of several types of T cells. These include cytotoxic T cells (CD8+ T cells), whose functions include destroying cells infected by viruses. The ZAP70 gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct and assist the functions of the immune system by influencing the activities of other immune system cells. Mutations in the ZAP70 gene prevent the production of zeta-chain-associated protein kinase or result in a protein that is unstable and cannot perform its function. A loss of functional zeta-chain-associated protein kinase leads to the absence of CD8+ T cells and an excess of inactive CD4+ T cells. The resulting shortage of active T cells causes people with ZAP70-related SCID to be more susceptible to infection. | growth_hormone_receptor | The resulting shortage of active T cells |
194 | Is ZAP70-related severe combined immunodeficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | growth_hormone_receptor | autosomal recessive pattern |
195 | What are the treatments for ZAP70-related severe combined immunodeficiency ? | These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Rehabilitation - Genetic Counseling - Palliative Care |
196 | What is (are) Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. This combination is described as a "Greek warrior helmet" appearance. The eyes are widely spaced and may be protruding. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly). People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature. Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, while verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age. Additional features of Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal curvature of the spine (scoliosis and kyphosis), dental problems including missing teeth, and an opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, genitourinary tract, and brain. A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms. | growth_hormone_receptor | a condition that affects many parts of the body |
197 | How many people are affected by Wolf-Hirschhorn syndrome ? | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. | growth_hormone_receptor | 1 in 50,000 |
198 | What are the genetic changes related to Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition. Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome. | growth_hormone_receptor | loss of multiple genes |
199 | Is Wolf-Hirschhorn syndrome inherited ? | Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de novo events, which may help explain the variability in the condition's signs and symptoms. De novo chromosomal changes occur in people with no history of the disorder in their family. A small percentage of all people with Wolf-Hirschhorn syndrome have the disorder as a result of an unusual chromosomal abnormality such as a ring chromosome 4. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. In the process, genes near the ends of the chromosome are lost. In the remaining cases of Wolf-Hirschhorn syndrome, an affected individual inherits a copy of chromosome 4 with a deleted segment. In these cases, one of the individual's parents carries a chromosomal rearrangement between chromosome 4 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Some people with Wolf-Hirschhorn syndrome inherit an unbalanced translocation that deletes genes near the end of the short arm of chromosome 4. A loss of these genes results in the intellectual disability, slow growth, and other health problems characteristic of this disorder. | growth_hormone_receptor | not inherited |
200 | What are the treatments for Wolf-Hirschhorn syndrome ? | These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | growth_hormone_receptor | Surgery and Rehabilitation - Genetic Counseling - Palliative Care |