fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to Dandy-Walker malformation ?
Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown.  Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation. + GHR + Dandy-Walker malformation
Is Dandy-Walker malformation inherited ?
Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker malformation have an increased risk of developing the condition compared with people in the general population.  When Dandy-Walker malformation is a feature of a genetic condition, it is inherited in the pattern of that condition. + GHR + Dandy-Walker malformation
What are the treatments for Dandy-Walker malformation ?
These resources address the diagnosis or management of Dandy-Walker malformation:  - Genetic Testing Registry: Dandy-Walker syndrome  - National Hydrocephalus Foundation: Treatment of Hydrocephalus   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 + GHR + Dandy-Walker malformation
What is (are) familial hyperaldosteronism ?
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.  Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.  There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found. + GHR + familial hyperaldosteronism
How many people are affected by familial hyperaldosteronism ?
The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism. + GHR + familial hyperaldosteronism
What are the genetic changes related to familial hyperaldosteronism ?
The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands.  The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I.  Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III.  The genetic cause of familial hyperaldosteronism type II is unknown. + GHR + familial hyperaldosteronism
Is familial hyperaldosteronism 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. + GHR + familial hyperaldosteronism
What are the treatments for familial hyperaldosteronism ?
These resources address the diagnosis or management of familial hyperaldosteronism:  - Genetic Testing Registry: Familial hyperaldosteronism type 1  - Genetic Testing Registry: Familial hyperaldosteronism type 3  - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism  - International Registry for Glucocorticoid-Remediable Aldosteronism  - MedlinePlus Encyclopedia: Aldosterone   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 + GHR + familial hyperaldosteronism
What is (are) Pfeiffer syndrome ?
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.  Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.  In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).  Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull. + GHR + Pfeiffer syndrome
How many people are affected by Pfeiffer syndrome ?
Pfeiffer syndrome affects about 1 in 100,000 individuals. + GHR + Pfeiffer syndrome
What are the genetic changes related to Pfeiffer syndrome ?
Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.  Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene. + GHR + Pfeiffer syndrome
Is Pfeiffer syndrome 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. + GHR + Pfeiffer syndrome
What are the treatments for Pfeiffer syndrome ?
These resources address the diagnosis or management of Pfeiffer syndrome:  - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes  - Genetic Testing Registry: Pfeiffer syndrome  - MedlinePlus Encyclopedia: Craniosynostosis  - MedlinePlus Encyclopedia: Webbing of fingers or toes   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 + GHR + Pfeiffer syndrome
What is (are) 3MC syndrome ?
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body.  The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.  3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names. + GHR + 3MC syndrome
How many people are affected by 3MC syndrome ?
3MC syndrome is a rare disorder; its exact prevalence is unknown. + GHR + 3MC syndrome
What are the genetic changes related to 3MC syndrome ?
3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells, which give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system.  The COLEC11 gene provides instructions for making a protein called CL-K1. Three different proteins, MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene's instructions are pieced together. The MASP1 gene mutations identified in people with 3MC syndrome affect the MASP-3 protein; some affect the MASP-1 protein in addition to MASP-3. COLEC11 and MASP1 gene mutations that cause 3MC syndrome impair or eliminate the function of the corresponding proteins, resulting in faulty control of cell migration in embryonic development and leading to the various abnormalities that occur in this disorder.  In some people with 3MC syndrome, no mutations in the COLEC11 or MASP1 gene have been identified. In these individuals, the cause of the disorder is unknown. + GHR + 3MC syndrome
Is 3MC 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. + GHR + 3MC syndrome
What are the treatments for 3MC syndrome ?
These resources address the diagnosis or management of 3MC syndrome:  - Genetic Testing Registry: Carnevale syndrome  - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome  - Genetic Testing Registry: Malpuech facial clefting syndrome  - Genetic Testing Registry: Michels 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 + GHR + 3MC syndrome
What is (are) methylmalonic acidemia with homocystinuria ?
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age.  When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated.  When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls. + GHR + methylmalonic acidemia with homocystinuria
How many people are affected by methylmalonic acidemia with homocystinuria ?
The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California. Other types of methylmalonic acidemia with homocystinuria are much less common. Fewer than 20 cases of each of the other types have been reported in the medical literature. + GHR + methylmalonic acidemia with homocystinuria
What are the genetic changes related to methylmalonic acidemia with homocystinuria ?
Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, which are known as complementation groups: cblC, cblD, cblF, cblJ, and cblX, respectively.  Each of the above-mentioned genes is involved in the processing of vitamin B12, also known as cobalamin or Cbl. Processing of the vitamin converts it to one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme that helps break down certain amino acids, lipids, and cholesterol. AdoCbl is called a cofactor because it helps the enzyme carry out its function. MeCbl is also a cofactor, but for another enzyme that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.  Mutations in the MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1 gene affect early steps of vitamin B12 processing, resulting in a shortage of both AdoCbl and MeCbl. Without AdoCbl, proteins and lipids are not broken down properly. This defect allows potentially toxic compounds to build up in the body's organs and tissues, causing methylmalonic acidemia. Without MeCbl, homocysteine is not converted to methionine. As a result, homocysteine builds up in the bloodstream and methionine is depleted. Some of the excess homocysteine is excreted in urine (homocystinuria). Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria.  Mutations in other genes involved in vitamin B12 processing can cause related conditions. Those mutations that impair only AdoCbl production lead to methylmalonic acidemia, and those that impair only MeCbl production cause homocystinuria. + GHR + methylmalonic acidemia with homocystinuria
Is methylmalonic acidemia with homocystinuria inherited ?
Methylmalonic acidemia with homocystinuria is usually 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.  When caused by mutations in the HCFC1 gene, the condition is inherited in an X-linked recessive pattern. The HCFC1 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. 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. + GHR + methylmalonic acidemia with homocystinuria
What are the treatments for methylmalonic acidemia with homocystinuria ?
These resources address the diagnosis or management of methylmalonic acidemia with homocystinuria:  - Baby's First Test: Methylmalonic Acidemia with Homocystinuria  - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism  - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE  - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD   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 + GHR + methylmalonic acidemia with homocystinuria
What is (are) benign essential blepharospasm ?
Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.  The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment.  In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome. + GHR + benign essential blepharospasm
How many people are affected by benign essential blepharospasm ?
Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men. + GHR + benign essential blepharospasm