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HSD10 mitochondrial disease

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Uniprot Description An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis.
Mondo Term and Equivalent IDs
MONDO:0010327:  HSD10 mitochondrial disease
GARD:0010716: 
MESH:C564560: 
Orphanet:391417: 
SCTID:791000124107: 
UMLS:C1846168: 
UMLS:CN204973: