fenil210/Med-Lamma huggingface dataset:
Is spastic paraplegia type 2 inherited ?
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life. + GHR + spastic paraplegia type 2
What are the treatments for spastic paraplegia type 2 ?
These resources address the diagnosis or management of spastic paraplegia type 2:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Gene Review: Gene Review: PLP1-Related Disorders  - Genetic Testing Registry: Spastic paraplegia 2  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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 + spastic paraplegia type 2
What is (are) adermatoglyphia ?
Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the "immigration delay disease" because affected individuals have had difficulty entering countries that require fingerprinting for identification.  In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth. + GHR + adermatoglyphia
How many people are affected by adermatoglyphia ?
Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide. + GHR + adermatoglyphia
What are the genetic changes related to adermatoglyphia ?
Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protein regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. Little is known about the function of the skin-specific version of the SMARCAD1 protein, but it appears to play a critical role in dermatoglyph formation. Dermatoglyphs develop before birth and remain the same throughout life. The activity of this protein is likely one of several factors that determine each person's unique fingerprint pattern.  The SMARCAD1 gene mutations that cause adermatoglyphia affect only the skin-specific version of the SMARCAD1 protein. These mutations reduce the total amount of this protein available in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs. + GHR + adermatoglyphia
Is adermatoglyphia inherited ?
Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the altered SMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition. + GHR + adermatoglyphia
What are the treatments for adermatoglyphia ?
These resources address the diagnosis or management of adermatoglyphia:  - Genetic Testing Registry: Adermatoglyphia   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 + adermatoglyphia
What is (are) megalencephalic leukoencephalopathy with subcortical cysts ?
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size of the head (macrocephaly). Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In megalencephalic leukoencephalopathy with subcortical cysts, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can grow in size and number.  The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability.  There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability. + GHR + megalencephalic leukoencephalopathy with subcortical cysts
How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ?
Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature. + GHR + megalencephalic leukoencephalopathy with subcortical cysts
What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ?
Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion).  Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear.  Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.  Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown. + GHR + megalencephalic leukoencephalopathy with subcortical cysts
Is megalencephalic leukoencephalopathy with subcortical cysts inherited ?
All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a 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.  Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. + GHR + megalencephalic leukoencephalopathy with subcortical cysts
What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ?
These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts:  - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2a  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation  - MedlinePlus Encyclopedia: Myelin   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 + megalencephalic leukoencephalopathy with subcortical cysts
What is (are) nephronophthisis ?
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.  Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).  About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).  Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Lken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. + GHR + nephronophthisis
How many people are affected by nephronophthisis ?
Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults. + GHR + nephronophthisis
What are the genetic changes related to nephronophthisis ?
Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes involved in nephronophthisis are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells and tissues, including cells in the kidneys, liver, and brain and the light-sensitive tissue at the back of the eye (the retina).  The genetic mutations involved in nephronophthisis are thought to impair the structure or function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia lead to the features of nephronophthisis, the mechanism remains unclear. It is unknown why some people with mutations in nephronophthisis-associated genes have only kidney problems, while others develop additional signs and symptoms. + GHR + nephronophthisis
Is nephronophthisis 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 + nephronophthisis
What are the treatments for nephronophthisis ?
These resources address the diagnosis or management of nephronophthisis:  - Genetic Testing Registry: Adolescent nephronophthisis  - Genetic Testing Registry: Infantile nephronophthisis  - Genetic Testing Registry: Nephronophthisis  - Genetic Testing Registry: Nephronophthisis 1  - Genetic Testing Registry: Nephronophthisis 11  - Genetic Testing Registry: Nephronophthisis 12  - Genetic Testing Registry: Nephronophthisis 14  - Genetic Testing Registry: Nephronophthisis 15  - Genetic Testing Registry: Nephronophthisis 16  - Genetic Testing Registry: Nephronophthisis 18  - Genetic Testing Registry: Nephronophthisis 4  - Genetic Testing Registry: Nephronophthisis 7  - Genetic Testing Registry: Nephronophthisis 9  - Merck Manual Professional Edition   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 + nephronophthisis
What is (are) multiple sclerosis ?
Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.  Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.  There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.  Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.  Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms. + GHR + multiple sclerosis
How many people are affected by multiple sclerosis ?
An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS. + GHR + multiple sclerosis
What are the genetic changes related to multiple sclerosis ?
Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking.  The HLA-DRB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations in several HLA genes have been associated with increased multiple sclerosis risk, but one particular variant of the HLA-DRB1 gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor.  The IL7R gene provides instructions for making one piece of two different receptor proteins: the interleukin 7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. Both receptors are embedded in the cell membrane of immune cells. These receptors stimulate signaling pathways that induce the growth and division (proliferation) and survival of immune cells. The genetic variation involved in multiple sclerosis leads to production of an IL-7 receptor that is not embedded in the cell membrane but is instead found inside the cell. It is unknown if this variation affects the TSLP receptor.  Because the HLA-DRB1 and IL-7R genes are involved in the immune system, changes in either might be related to the autoimmune response that damages the myelin sheath and nerve cells and leads to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role variations in either gene plays in development of the condition. + GHR + multiple sclerosis
Is multiple sclerosis inherited ?
The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population. + GHR + multiple sclerosis
What are the treatments for multiple sclerosis ?
These resources address the diagnosis or management of multiple sclerosis:  - Gene Review: Gene Review: Multiple Sclerosis Overview  - Multiple Sclerosis Association of America: Treatments for MS  - Multiple Sclerosis International Federation: About MS--Diagnosis  - National Multiple Sclerosis Society: Diagnosing Tools   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 + multiple sclerosis