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<s> [INST] What are the genetic changes related to hypermanganesemia with dystonia, polycythemia, and cirrhosis ?[/INST] Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, b... |
<s> [INST] Is hypermanganesemia with dystonia, polycythemia, and cirrhosis inherited ?[/INST] 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 muta... |
<s> [INST] What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ?[/INST] These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermang... |
<s> [INST] What is (are) gyrate atrophy of the choroid and retina ?[/INST] Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is th... |
<s> [INST] How many people are affected by gyrate atrophy of the choroid and retina ?[/INST] More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.</s> |
<s> [INST] What are the genetic changes related to gyrate atrophy of the choroid and retina ?[/INST] Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where i... |
<s> [INST] Is gyrate atrophy of the choroid and retina inherited ?[/INST] 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 t... |
<s> [INST] What are the treatments for gyrate atrophy of the choroid and retina ?[/INST] These resources address the diagnosis or management of gyrate atrophy: - Baby's First Test - Genetic Testing Registry: Ornithine aminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis... |
<s> [INST] What is (are) bladder cancer ?[/INST] Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of... |
<s> [INST] How many people are affected by bladder cancer ?[/INST] In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year.</s> |
<s> [INST] What are the genetic changes related to bladder cancer ?[/INST] As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. ... |
<s> [INST] Is bladder cancer inherited ?[/INST] Bladder cancer is typically not inherited. Most often, tumors result from genetic mutations that occur in bladder cells during a person's lifetime. These noninherited genetic changes are called somatic mutations.</s> |
<s> [INST] What are the treatments for bladder cancer ?[/INST] These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and m... |
<s> [INST] What is (are) carnitine-acylcarnitine translocase deficiency ?[/INST] Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon afte... |
<s> [INST] How many people are affected by carnitine-acylcarnitine translocase deficiency ?[/INST] CACT deficiency is very rare; at least 30 cases have been reported.</s> |
<s> [INST] What are the genetic changes related to carnitine-acylcarnitine translocase deficiency ?[/INST] Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a m... |
<s> [INST] Is carnitine-acylcarnitine translocase deficiency inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for carnitine-acylcarnitine translocase deficiency ?[/INST] These resources address the diagnosis or management of CACT deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinici... |
<s> [INST] What is (are) sitosterolemia ?[/INST] Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulat... |
<s> [INST] How many people are affected by sitosterolemia ?[/INST] Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the p... |
<s> [INST] What are the genetic changes related to sitosterolemia ?[/INST] Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells... |
<s> [INST] Is sitosterolemia inherited ?[/INST] 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... |
<s> [INST] What are the treatments for sitosterolemia ?[/INST] These resources address the diagnosis or management of sitosterolemia: - Gene Review: Gene Review: Sitosterolemia - Genetic Testing Registry: Sitosterolemia - Massachusetts General Hospital: Lipid Metabolism These resources from MedlinePlus offer infor... |
<s> [INST] What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ?[/INST] Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids ... |
<s> [INST] How many people are affected by blepharophimosis, ptosis, and epicanthus inversus syndrome ?[/INST] The prevalence of BPES is unknown.</s> |
<s> [INST] What are the genetic changes related to blepharophimosis, ptosis, and epicanthus inversus syndrome ?[/INST] Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the d... |
<s> [INST] Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ?[/INST] This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one... |
<s> [INST] What are the treatments for blepharophimosis, ptosis, and epicanthus inversus syndrome ?[/INST] These resources address the diagnosis or management of BPES: - Gene Review: Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus - Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inv... |
<s> [INST] What is (are) tumor necrosis factor receptor-associated periodic syndrome ?[/INST] Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few... |
<s> [INST] How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ?[/INST] TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than ... |
<s> [INST] What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ?[/INST] TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of ce... |
<s> [INST] Is tumor necrosis factor receptor-associated periodic syndrome inherited ?[/INST] 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. However, some people who inherit the altered gene never develop features o... |
<s> [INST] What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ?[/INST] These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) ... |
<s> [INST] What is (are) Kawasaki disease ?[/INST] Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redne... |
<s> [INST] How many people are affected by Kawasaki disease ?[/INST] In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan.</s> |
<s> [INST] What are the genetic changes related to Kawasaki disease ?[/INST] The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend ... |
<s> [INST] Is Kawasaki disease inherited ?[/INST] A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Childr... |
<s> [INST] What are the treatments for Kawasaki disease ?[/INST] These resources address the diagnosis or management of Kawasaki disease: - Cincinnati Children's Hospital Medical Center - Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome - National Heart, Lung, and Blood Institute: How is Kaw... |
<s> [INST] What is (are) familial Mediterranean fever ?[/INST] Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation ma... |
<s> [INST] How many people are affected by familial Mediterranean fever ?[/INST] Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It ... |
<s> [INST] What are the genetic changes related to familial Mediterranean fever ?[/INST] Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the ... |
<s> [INST] Is familial Mediterranean fever inherited ?[/INST] Familial Mediterranean fever is almost always inherited in an autosomal recessive pattern, which means both copies of the MEFV gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mut... |
<s> [INST] What are the treatments for familial Mediterranean fever ?[/INST] These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever These resources from MedlinePlus offer i... |
<s> [INST] What is (are) ataxia with vitamin E deficiency ?[/INST] Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called fr... |
<s> [INST] How many people are affected by ataxia with vitamin E deficiency ?[/INST] Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to ataxia with vitamin E deficiency ?[/INST] Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution... |
<s> [INST] Is ataxia with vitamin E deficiency inherited ?[/INST] 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... |
<s> [INST] What are the treatments for ataxia with vitamin E deficiency ?[/INST] These resources address the diagnosis or management of ataxia with vitamin E deficiency: - Gene Review: Gene Review: Ataxia with Vitamin E Deficiency - Genetic Testing Registry: Ataxia with vitamin E deficiency - MedlinePlus Encyclopedi... |
<s> [INST] What is (are) achromatopsia ?[/INST] Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows ... |
<s> [INST] How many people are affected by achromatopsia ?[/INST] Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands o... |
<s> [INST] What are the genetic changes related to achromatopsia ?[/INST] Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-se... |
<s> [INST] Is achromatopsia inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for achromatopsia ?[/INST] These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information ab... |
<s> [INST] What is (are) epidermolysis bullosa with pyloric atresia ?[/INST] Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and t... |
<s> [INST] How many people are affected by epidermolysis bullosa with pyloric atresia ?[/INST] EB-PA appears to be a rare condition, although its prevalence is unknown. At least 50 affected individuals have been reported worldwide.</s> |
<s> [INST] What are the genetic changes related to epidermolysis bullosa with pyloric atresia ?[/INST] EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract. ITGB4 gene mutations are the most common... |
<s> [INST] Is epidermolysis bullosa with pyloric atresia inherited ?[/INST] 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... |
<s> [INST] What are the treatments for epidermolysis bullosa with pyloric atresia ?[/INST] These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa ... |
<s> [INST] What is (are) Warsaw breakage syndrome ?[/INST] Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head... |
<s> [INST] How many people are affected by Warsaw breakage syndrome ?[/INST] Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.</s> |
<s> [INST] What are the genetic changes related to Warsaw breakage syndrome ?[/INST] Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily un... |
<s> [INST] Is Warsaw breakage syndrome inherited ?[/INST] 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 ... |
<s> [INST] What are the treatments for Warsaw breakage syndrome ?[/INST] These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Los... |
<s> [INST] What is (are) Carpenter syndrome ?[/INST] Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving t... |
<s> [INST] How many people are affected by Carpenter syndrome ?[/INST] Carpenter syndrome is thought to be a rare condition; approximately 70 cases have been described in the scientific literature.</s> |
<s> [INST] What are the genetic changes related to Carpenter syndrome ?[/INST] Mutations in the RAB23 or MEGF8 gene cause Carpenter syndrome. The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-... |
<s> [INST] Is Carpenter syndrome inherited ?[/INST] 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 s... |
<s> [INST] What are the treatments for Carpenter syndrome ?[/INST] These resources address the diagnosis or management of Carpenter syndrome: - Genetic Testing Registry: Carpenter syndrome 1 - Genetic Testing Registry: Carpenter syndrome 2 - Great Ormond Street Hospital for Children (UK): Craniosynostosis Informatio... |
<s> [INST] What is (are) Potocki-Shaffer syndrome ?[/INST] Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors be... |
<s> [INST] How many people are affected by Potocki-Shaffer syndrome ?[/INST] Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature.</s> |
<s> [INST] What are the genetic changes related to Potocki-Shaffer syndrome ?[/INST] Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. The size of the deletion varies among affecte... |
<s> [INST] Is Potocki-Shaffer syndrome inherited ?[/INST] Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted se... |
<s> [INST] What are the treatments for Potocki-Shaffer syndrome ?[/INST] These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health condit... |
<s> [INST] What is (are) osteogenesis imperfecta ?[/INST] Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent caus... |
<s> [INST] How many people are affected by osteogenesis imperfecta ?[/INST] This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 to 5 per 100,000 people.</s> |
<s> [INST] What are the genetic changes related to osteogenesis imperfecta ?[/INST] Mutations in the COL1A1, COL1A2, CRTAP, and P3H1 genes cause osteogenesis imperfecta. Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instru... |
<s> [INST] Is osteogenesis imperfecta inherited ?[/INST] Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from... |
<s> [INST] What are the treatments for osteogenesis imperfecta ?[/INST] These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imp... |
<s> [INST] What is (are) lung cancer ?[/INST] Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing probl... |
<s> [INST] How many people are affected by lung cancer ?[/INST] In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their ... |
<s> [INST] What are the genetic changes related to lung cancer ?[/INST] Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases... |
<s> [INST] Is lung cancer inherited ?[/INST] Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominan... |
<s> [INST] What are the treatments for lung cancer ?[/INST] These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung Ca... |
<s> [INST] What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?[/INST] Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnor... |
<s> [INST] How many people are affected by cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?[/INST] CARASIL appears to be a rare condition. It has been identified in about 50 people, primarily in Japan and China.</s> |
<s> [INST] What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?[/INST] CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of th... |
<s> [INST] Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ?[/INST] As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an i... |
<s> [INST] What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?[/INST] These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with sub... |
<s> [INST] What is (are) galactosialidosis ?[/INST] Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive s... |
<s> [INST] How many people are affected by galactosialidosis ?[/INST] The prevalence of galactosialidosis is unknown; more than 100 cases have been reported. Approximately 60 percent of people with galactosialidosis have the juvenile/adult form. Most people with this type of the condition are of Japanese descent.</s> |
<s> [INST] What are the genetic changes related to galactosialidosis ?[/INST] Mutations in the CTSA gene cause all forms of galactosialidosis. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that d... |
<s> [INST] Is galactosialidosis inherited ?[/INST] 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 si... |
<s> [INST] What are the treatments for galactosialidosis ?[/INST] These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fe... |
<s> [INST] What is (are) hereditary sensory and autonomic neuropathy type IE ?[/INST] Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some ... |
<s> [INST] How many people are affected by hereditary sensory and autonomic neuropathy type IE ?[/INST] HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world.</s> |
<s> [INST] What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?[/INST] HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the add... |
<s> [INST] Is hereditary sensory and autonomic neuropathy type IE inherited ?[/INST] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.</s> |
<s> [INST] What are the treatments for hereditary sensory and autonomic neuropathy type IE ?[/INST] These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: ... |
<s> [INST] What is (are) CAV3-related distal myopathy ?[/INST] CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CA... |
<s> [INST] How many people are affected by CAV3-related distal myopathy ?[/INST] The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature.</s> |
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