HSD10 mitochondrial disease
Findings
No curated finding names HSD10 mitochondrial disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0010327), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating tiglylglycine concentrationHPOHP:0034290
- 5 of 5 reported patients
- Abnormal urinary acylglycine profileHPOHP:0012073
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Elevated urinary 3-hydroxybutyric acidHPOHP:0040155
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Show the remaining 26
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- ChoreoathetosisHPOHP:0001266
- Occasional (5% to 29% of cases)
- Chronic lactic acidosisHPOHP:0004925
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Floppy infantHPOHP:0008947
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HSD17B10HGNC:4800
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
17 names
Resolves to: HSD10 mitochondrial disease
- Also called
- 17-beta-hydroxysteroid dehydrogenase 10 deficiency17-beta-hydroxysteroid dehydrogenase X deficiency2-methyl-3-hydroxybutyric aciduria2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase 2 deficiencychorioathetosis with mental retardation and abnormal behaviorchorioathetosis with mental retardation and abnormal behaviourHSD10 deficiencyHSD10 mitochondrial disease, X-linked dominantHSD10MDHSD17B10 deficiencymental retardation with chorioathetosis and abnormal behaviormental retardation with chorioathetosis and abnormal behaviourmental retardation, X-linked, syndromic 10