Druvith/transformed_medDataset huggingface dataset:
What are the genetic changes related to Ellis-van Creveld syndrome ? 
 Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.  The mutations that cause Ellis-van Creveld syndrome result in the production of an abnormally small, nonfunctional version of the EVC or EVC2 protein. It is unclear how the defective proteins lead to the specific signs and symptoms of this condition. Studies suggest that they prevent normal Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the bones, teeth, and other parts of the body.  Together, mutations in the EVC and EVC2 genes account for more than half of all cases of Ellis-van Creveld syndrome. The cause of the remaining cases is unknown.
Is Ellis-van Creveld 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.
What are the treatments for Ellis-van Creveld syndrome ? 
 These resources address the diagnosis or management of Ellis-van Creveld syndrome:  - Genetic Testing Registry: Chondroectodermal dysplasia  - MedlinePlus Encyclopedia: Congenital Heart Disease  - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome  - MedlinePlus Encyclopedia: Polydactyly   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
What is (are) Lennox-Gastaut syndrome ? 
 Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.  People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome.  Most of the seizures associated with Lennox-Gastaut syndrome are very brief. However, more than two-thirds of affected individuals experience at least one prolonged period of seizure activity known as nonconvulsive status epilepticus. These episodes can cause confusion and a loss of alertness lasting from hours to weeks.  Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and progressive intellectual disability, most people with Lennox-Gastaut syndrome require help with some or all of the usual activities of daily living. However, a small percentage of affected adults live independently.  People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.
How many people are affected by Lennox-Gastaut syndrome ? 
 Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females.
What are the genetic changes related to Lennox-Gastaut syndrome ? 
 Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. Symptomatic Lennox-Gastaut syndrome can be associated with brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. The condition can also result from a brain malformation known as cortical dysplasia or occur as part of a genetic disorder called tuberous sclerosis complex. Many people with Lennox-Gastaut syndrome have a history of recurrent seizures beginning in infancy (infantile spasms) or a related condition called West syndrome.  In about one-third of cases, the cause of Lennox-Gastaut syndrome is unknown. When the disorder occurs without an apparent underlying reason, it is described as cryptogenic. Individuals with cryptogenic Lennox-Gastaut syndrome have no history of epilepsy, neurological problems, or delayed development prior to the onset of the disorder.
Is Lennox-Gastaut syndrome inherited ? 
 Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy.
What are the treatments for Lennox-Gastaut syndrome ? 
 These resources address the diagnosis or management of Lennox-Gastaut syndrome:  - Cleveland Clinic  - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type  - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy  - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U.S. Food and Drug Administration, November 20, 2008)   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
What is (are) nonsyndromic aplasia cutis congenita ? 
 Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.  Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area.  When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels.  Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.
How many people are affected by nonsyndromic aplasia cutis congenita ? 
 Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown.
What are the genetic changes related to nonsyndromic aplasia cutis congenita ? 
 Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin growth may be involved. It is thought that impairments of skin growth more commonly affect the skin at the top of the head because that region needs to be able to grow quickly to cover the fast-growing skull of a developing baby.  In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. In addition, certain viral infections in a pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia cutis congenita. Other cases are thought to be caused by injury to the baby during development.
Is nonsyndromic aplasia cutis congenita inherited ? 
 Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, the condition appears to follow an autosomal recessive pattern of inheritance, which 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.
What are the treatments for nonsyndromic aplasia cutis congenita ? 
 These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita:  - Genetic Testing Registry: Aplasia cutis congenita   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
What is (are) DOORS syndrome ? 
 DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.  Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder.  The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs).  The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur.  Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated.
How many people are affected by DOORS syndrome ? 
 DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature.
What are the genetic changes related to DOORS syndrome ? 
 DOORS syndrome can be caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. Research suggests that the TBC1D24 protein may also help cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells. Studies indicate that the TBC1D24 protein is active in a variety of organs and tissues; it is particularly active in the brain and likely plays an important role in normal brain development. The TBC1D24 protein is also active in specialized structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound waves, which is critical for converting sound waves to nerve impulses.  TBC1D24 gene mutations that cause DOORS syndrome are thought to reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the signs and symptoms of DOORS syndrome is not well understood.  In about half of affected individuals, no TBC1D24 gene mutation has been identified. The cause of DOORS syndrome in these individuals is unknown.
Is DOORS 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.
What are the treatments for DOORS syndrome ? 
 These resources address the diagnosis or management of DOORS syndrome:  - Gene Review: Gene Review: TBC1D24-Related Disorders   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
What is (are) Arts syndrome ? 
 Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.  Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).  Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.  In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.
How many people are affected by Arts syndrome ? 
 Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature.
What are the genetic changes related to Arts syndrome ? 
 Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.  The PRPS1 gene mutations that cause Arts syndrome replace single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The resulting enzyme is probably unstable, reducing or eliminating its ability to perform its function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system, resulting in the neurological problems characteristic of Arts syndrome. The reason for the increased risk of respiratory infections in Arts syndrome is unclear.
Is Arts syndrome inherited ? 
 This condition is inherited in an X-linked 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), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes features of the disorder; in other cases, these females do not experience any symptoms.  In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.
What are the treatments for Arts syndrome ? 
 These resources address the diagnosis or management of Arts syndrome:  - Gene Review: Gene Review: Arts Syndrome  - Genetic Testing Registry: Arts syndrome  - MedlinePlus Encyclopedia: Hearing Loss  - MedlinePlus Encyclopedia: Movement, Uncoordinated  - MedlinePlus Encyclopedia: Optic Nerve Atrophy   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
What is (are) triple A syndrome ? 
 Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.  Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.  People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.  Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
How many people are affected by triple A syndrome ? 
 Triple A syndrome is a rare condition, although its exact prevalence is unknown.
What are the genetic changes related to triple A syndrome ? 
 Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus.  Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN in the nuclear envelope likely disrupts the movement of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome.  Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene. The genetic cause of the disorder is unknown in these individuals.
Is triple A 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.