Hsd10 mitochondrial disease

Preferred Label : Hsd10 mitochondrial disease;

Symbol : HSD10MD;

CISMeF acronym : CAMR; HSD10MD; MRXS10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXS10; Hsd17b10 deficiency; Mhbd deficiency; 17-beta-hydroxysteroid dehydrogenase X deficiency; CAMR; Mental retardation, X-linked, syndromic 10; Choreoathetosis with mental retardation and abnormal behavior; 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency; 3-hydroxyacyl-coa dehydrogenase II deficiency; Mental retardation with choreoathetosis and abnormal behavior;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase X gene (HSD17B10, 300256.0001);

Laboratory abnormalities : Decreased activity of 2-methyl-3-hydroxybutyryl Co-A dehydrogenase; Increased urinary 2-methyl-3 hydroxybutyrate; Patient cells show abnormal mitochondrial morphology; Increased urinary tiglylglycine;

Prefixed ID : #300438;

Details

Origin ID

300438;

UMLS CUI

C3266731;

Automatic exact mappings (from CISMeF team)
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH concept]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]
- hydroxysteroid 17-beta dehydrogenase 10 [ORDO Gene]
- syndromic X-linked intellectual disability type 10 [DO Concept]
Currated CISMeF NLP mapping
- 2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-methyl-3-hydroxybutyric aciduria (disorder) [SNOMED CT concept]
- HSD10 disease [ORDO Disease]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic 10 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 10 [MeSH concept]
DO Cross reference
- syndromic X-linked intellectual disability type 10 [DO Concept]
Genes related to phenotype
- 17-beta-hydroxysteroid dehydrogenase X [OMIM gene]
HPO term(s)
- Abnormal mitochondrial morphology [HPO term]
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Cerebral cortical atrophy [HPO term]
- Choreoathetosis [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Loss of developmental milestones [HPO term]
- Metabolic acidosis [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive neurologic deterioration [HPO term]
- Restlessness [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Visual loss [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- HSD10 disease [ORDO Disease]
- HSD10 disease, atypical type [ORDO Disease]
- HSD10 disease, infantile type [ORDO Disease]
- HSD10 disease, neonatal type [ORDO Disease]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-methyl-3-hydroxybutyric aciduria (disorder) [SNOMED CT concept]
- HSD10 disease [ORDO Disease]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- mental retardation, X-Linked, syndromic 10 [MeSH Supplementary Concept]

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