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dystrophy","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0000736","label":"Short attention span","primary":false},{"hpoId":"HP:0001264","label":"Spastic diplegia","primary":false},{"hpoId":"HP:0002313","label":"Spastic paraparesis","primary":false},{"hpoId":"HP:0001285","label":"Spastic tetraparesis","primary":false},{"hpoId":"HP:0002510","label":"Spastic tetraplegia","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0030391","label":"Spoken word recognition deficit","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0000572","label":"Visual 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It is typically more severe in males than in females. Most affected males have a form of HSD10 disease in which early development seems normal, followed by a stage in which affected individuals rapidly lose skills they have acquired. This developmental regression often occurs between the ages of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills such as sitting, standing, and walking. This form of the disorder is referred to as the infantile type. Less commonly, affected males have severe neurological problems from birth and never develop motor skills. This form is called the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually gets worse. Weakening of the heart muscle (cardiomyopathy) also occurs and is a common cause of death in males with severe HSD10 disease. Many affected males do not survive beyond early childhood.","mondoId":"MONDO:0010327","records":[{"frequencyKind":"range","key":"0143b2dd286856ee37a666c66e30a0d64ad994d7f6a0ac9341afce9cd3e0531b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:391417","disease_name":"HSD10 disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:391417","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"020ca887a8908cf2324db12575f90ab80da887d09516cde8486436eccf237e76","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:391428","disease_name":"HSD10 disease, infantile type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002490","is_excluded":false,"label":"Increased CSF 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>HSD10 disease is caused by mutations in the HSD17B10 gene, which provides instructions for making the HSD10 protein. This protein is located within mitochondria, the energy-producing centers inside cells, where it is involved in the production (synthesis) of proteins. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), a few proteins are synthesized in the mitochondria.</p><p>During protein synthesis, in either the mitochondria or the cytoplasm, molecules called transfer RNAs (tRNAs) help assemble protein building blocks (amino acids) into chains that form proteins. The HSD10 protein is part of a group of proteins (a complex) that is involved in making functional mitochondrial tRNA molecules, which aid in the synthesis of mitochondrial proteins. Normal mitochondrial protein production is essential for the formation of the groups of proteins that convert the energy from food into a form cells can use.</p><p>The HSD17B10 gene mutations that cause HSD10 disease reduce the amount of HSD10 protein in cells, impair their structure or function, or both, which leads to a deficiency of the functional complex in which it plays a part. This deficiency impairs the production of mitochondrial tRNAs. Without enough tRNAs, the mitochondrial synthesis of proteins involved in cellular energy production is reduced. A shortage of these proteins results in insufficient energy production in cells of the brain, eyes, and heart, leading to the characteristic features of HSD10 disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hsd10-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes HSD10 disease?"},{"bodyHtml":"<p>Females with HSD10 disease may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some affected females have additional features of this condition, such as epilepsy, movement problems, and hearing loss. Affected females appear to have a normal life expectancy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hsd10-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hsd10-disease","sourceDocuments":[{"name":"HSD10 disease","reviewed":"2018-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:16.444420+00:00","label":"Causes","pageSha256":"de2472d736ff0b5870b4f64165254e8cf8b2b2dd4582395099fb53ac9ea19e3a","sourceUrl":"https://medlineplus.gov/genetics/condition/hsd10-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hsd10-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"HSD10 disease"},"schemaVersion":1}