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A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Features include always present findings: Intellectual disability and Elevated circulating tiglylglycine concentration; and very common findings: Progressive neurologic deterioration. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 11 | Cerebral cortical atrophy, Seizure, Aggressive behavior |
Muscles | 4 | Cerebral cortical atrophy, Low muscle tone (hypotonia), Generalized hypotonia |
Eyes | 3 | Nystagmus, Retinal degeneration, Damage to the optic nerve (optic atrophy) |
Metabolism | 1 | Metabolic acidosis |
Heart and blood vessels | 1 | Thickened heart muscle (hypertrophic cardiomyopathy) |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Lab test results | 1 | Elevated circulating tiglylglycine concentration |
HSD17B10 encodes hydroxysteroid 17-beta dehydrogenase 10 (261 aa). Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism. Highest expression in Liver (141.8 TPM) and Cells EBV-transformed lymphocytes (127.6 TPM).
HSD10 mitochondrial disease is caused by mutations in the HSD17B10 gene on chromosome X.
The HSD17B10 protein participates in HSD17B10 tetramer, alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ alpha-methylacetoacetyl-CoA + NADH + H+, and alpha-methylacetoacetyl-CoA + NADH + H+ alpha-methyl-beta-hydroxybutyryl-CoA + NAD+ pathways.
HSD17B10 is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 0.1.
Genetic testing for HSD17B10 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 very common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for HSD10 mitochondrial disease.
8 publications have been identified in PubMed for HSD10 mitochondrial disease. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).
Khodawrdi A (2026). [PMID: 41971928](https://pubmed.ncbi.nlm.nih.gov/41971928/). *AME Case Rep*. [Case Report / Case Series]
Wong YS (2025). [PMID: 39936125](https://pubmed.ncbi.nlm.nih.gov/39936125/). *Frontiers in pediatrics*. [Clinical Trial Publication]
Kubo R (2025). [PMID: 41179105](https://pubmed.ncbi.nlm.nih.gov/41179105/). *Cureus*. [Case Report / Case Series]
Jiang T (2025). [PMID: 40055822](https://pubmed.ncbi.nlm.nih.gov/40055822/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
He XY (2025). [PMID: 40863408](https://pubmed.ncbi.nlm.nih.gov/40863408/). *Journal of personalized medicine*. [Review / Meta-Analysis]
Ciki K (2024). [PMID: 38841322](https://pubmed.ncbi.nlm.nih.gov/38841322/). *Molecular syndromology*. [Case Report / Case Series]
Crane JD (2024). [PMID: 39182609](https://pubmed.ncbi.nlm.nih.gov/39182609/). *Journal of lipid research*. [Basic Science / Preclinical]
Tao J (2024). [PMID: 39521773](https://pubmed.ncbi.nlm.nih.gov/39521773/). *NPJ biofilms and microbiomes*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning HSD10 mitochondrial disease
Updated Sep 8, 2026
Recent research highlights the effectiveness of comprehensive functional testing in fibroblasts for diagnosing mitochondrial disease. This approach could enhance diagnostic accuracy and patient outcomes in rare mitochondrial disorders.
A systematic review highlights the dysfunction in endothelial-mitochondrial coupling associated with mitochondrial diseases, focusing on vascular, biochemical, and oxidative bioenergetic aspects. This synthesis provides insights into potential therapeutic targets for improving patient outcomes.
A case report details the anesthetic management of a patient with myoclonic epilepsy with ragged red fibers, a mitochondrial disease. This study contributes to the understanding of anesthetic considerations in patients with rare mitochondrial disorders.