HSD10 mitochondrial disease

rare

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.

Identifiers: MONDO:0010327 OMIM:300220 OMIM:300438 Orphanet:391417
Causal genes: HSD17B10
Part of: Hereditary neurological disease Inborn mitochondrial metabolism disorder
Also known as: 17 beta-hydroxysteroid dehydrogenase type 10 deficiency · 17-beta-hydroxysteroid dehydrogenase 10 deficiency · 17-beta-hydroxysteroid dehydrogenase X deficiency · 2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Subtypes

All diseases Rare only

Disease	ID	Subtypes
HSD10 disease, atypical type	MONDO:0037149
HSD10 disease, infantile type	MONDO:0018322
HSD10 disease, neonatal type	MONDO:0018323

Rare disease

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