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Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women pri...
Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the devel...
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, an...
Researchers have not found a way to prevent benign prostatic hyperplasia. Men with risk factors for benign prostatic hyperplasia should talk with a health care provider about any lower urinary tract symptoms and the need for regular prostate exams. Men can get early treatment and minimize benign prostatic hyperplasia e...
Diagnosis of marine toxin poisoning is generally based on symptoms and a history of recently eating a particular kind of seafood. Laboratory testing for the specific toxin in patient samples is generally not necessary because this requires special techniques and equipment available in only specialized laboratories. If ...
Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drain...
Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body...
Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.
How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cann...
Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue...
Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic r...
Studies have shown that most people with prediabetes develop type 2 diabetes within a few years, unless they change their lifestyle. Most people with prediabetes dont have any symptoms. Your doctor can test your blood to find out if your blood glucose levels are higher than normal. Losing weightat least 5 to 10 percent...
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.
How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing detai...
The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skil...
What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condit...
SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the SOX2 gene and occur in people with no history of the disorder in their family. In a small number of cases, peop...
Summary : Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier to treat. You can get some screenings in your doctor's office. Others need special equipment, so you may need to go to a different office or clinic. Some conditions that doctor...
How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both p...
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is though...
These resources address the diagnosis or management of Fuchs endothelial dystrophy: - Duke Eye Center: Corneal Disease - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2 - Genetic Testing Registry: Corneal dystrophy, Fuchs endotheli...
The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 males in the United States. This condition rarely affects females.
Frequently Asked Questions (FAQs) Cystic echinococcosis (CE) disease results from being infected with the larval stage of Echinococcus granulosus, a tiny tapeworm (~2-7 millimeters in length) found in dogs (definitive host), sheep, cattle, goats, foxes, and pigs, amongst others (intermediate hosts). Most infection...
ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels...
These resources address the diagnosis or management of Carney complex: - Gene Review: Gene Review: Carney Complex - Genetic Testing Registry: Carney complex - Genetic Testing Registry: Carney complex, type 1 - Genetic Testing Registry: Carney complex, type 2 - MedlinePlus Encyclopedia: Atrial Myxoma - MedlinePlus...
- Viral hepatitis is inflammation of the liver caused by the hepatitis A, B, C, D, or E viruses. - Depending on the type of virus, viral hepatitis is spread through contaminated food or water, contact with infected blood, sexual contact with an infected person, or from mother to child during childbirth. - Vaccines of...
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seiz...
The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. When the gene is altered...
These resources address the diagnosis or management of 9q22.3 microdeletion: - Gene Review: Gene Review: 9q22.3 Microdeletion - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from Medl...
The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding...
How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy ...
Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or dislocates your vertebrae, the bone disks that make up your spine...
Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in childr...
Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of ...
How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.
The prognosis for individuals with BSS varies depending on the cause of the disorder.
What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue.
Summary : A healthy diet helps children grow and learn. It also helps prevent obesity and weight-related diseases, such as diabetes. To give your child a nutritious diet - Make half of what is on your child's plate fruits and vegetables - Choose healthy sources of protein, such as lean meat, nuts, and eggs ...
Preventing pulmonary embolism (PE) begins with preventing deep vein thrombosis (DVT). Knowing whether you're at risk for DVT and taking steps to lower your risk are important. Exercise your lower leg muscles if you're sitting for a long time while traveling. Get out of bed and move aro...
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscle...
How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.
These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy: - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2 - MedlinePlus Ency...
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial...
SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome.
Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities de...
WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although a...
These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from MedlinePlus offer information about the diagnosis and management of ...
What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h...
Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important f...
What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in ...
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.
The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by delays in physical and cognitive development.Some children will die in infancy; others will survive but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West ...
What causes primary melanoma of the small intestine? The cause of primary melanoma of the small intestine is currently unknown. Theories include that the cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own; that the cancer originated from a primary tumor that is so sm...
What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to...
What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. I...
Amblyopia, or "lazy eye," is the most common cause of visual impairment in children. It happens when an eye fails to work properly with the brain. The eye may look normal, but the brain favors the other eye. In some cases, it can affect both eyes. Causes include - Strabismus - a disorder in which the two eyes don...
Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially t...
The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide.
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.
These resources address the diagnosis or management of cap myopathy: - Genetic Testing Registry: TPM2-related cap myopathy - Genetic Testing Registry: cap myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ...
North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported.
What treatment is available for orofaciodigital syndrome type 2? Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.
These resources address the diagnosis or management of spastic paraplegia type 11: - Gene Review: Gene Review: Spastic Paraplegia 11 - Genetic Testing Registry: Spastic paraplegia 11, autosomal recessive - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer informat...
Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells...
Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at lea...
Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported.
Signs of uterine sarcoma include abnormal bleeding. Abnormal bleeding from the vagina and other signs and symptoms may be caused by uterine sarcoma or by other conditions. Check with your doctor if you have any of the following: - Bleeding that is not part of menstrual periods. - Bleeding after menopause. ...
Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basemen...
Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. This means that to be affected, a pers...
Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.
What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested.
Candida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in your body. Usually, your immune system keeps yeast under control. If you are sick or taking antibiotics, it can multiply and cause an infection. Yeast infections affect different parts of the body in different ways: ...
These resources address the diagnosis or management of juvenile polyposis syndrome: - Gene Review: Gene Review: Juvenile Polyposis Syndrome - Genetic Testing Registry: Juvenile polyposis syndrome - MedlinePlus Encyclopedia: Colorectal Polyps These resources from MedlinePlus offer information about the diagnosis an...
Summary : Circumcision is the removal of the foreskin, which is the skin that covers the tip of the penis. In the United States, it is often done before a new baby leaves the hospital. There are medical benefits and risks to circumcision. Possible benefits include a lower risk of urinary tract infections, penile cancer...
Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cart...
You can't prevent primary, or inherited, hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. In those who do, treatments can keep the disease from getting worse. Treatments include therapeutic phlebotomy, iron chelation therapy, d...
Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This type is more common in Norway where 1 in 60,000 to 74,000 individuals are affected. Tyrosinemia type I is even more common in Quebec, Canada where it occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, tyrosin...
These resources address the diagnosis or management of Swyer syndrome: - Gene Review: Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis - Genetic Testing Registry: Pure gonadal dysgenesis 46,XY - MedlinePlus Encyclopedia: Intersex - University College London Hospitals: Disorders o...
Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the ...
Treatment for Graves disease can sometimes affect pregnancy. After treatment with surgery or radioactive iodine, TSI antibodies can still be present in the blood, even when thyroid levels are normal. If a pregnant woman has received either of these treatments prior to becoming pregnant, the antibodies she produces may ...
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.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. Some people who inherit the altered gene never develop the condition, a situation known as reduced penetrance.
How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. ...
These resources address the diagnosis or management of Gorlin syndrome: - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from MedlinePlus offer information about the diagnosis and manag...
What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M...
Best disease 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. The inheritance pattern of adult-onset vitelliform macular dystrophy is uncertain. Some studies hav...
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this...
How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each ...
Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bl...
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to FTD in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country.
What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamin...
Often, no symptoms appear during the early stages of diabetes retina problems. As retina problems worsen, your symptoms might include - blurry or double vision - rings, flashing lights, or blank spots in your vision - dark or floating spots in your vision - pain or pressure in one or both of your ey...
How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the bra...
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms...
Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which t...
How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal....
These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome - MedlinePlus Encyclopedia: Retinitis...
Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, w...