3-hydroxyisobutyryl-coa hydrolase deficiency

Preferred Label : 3-hydroxyisobutyryl-coa hydrolase deficiency;

Symbol : HIBCHD;

CISMeF acronym : HIBCHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hibch deficiency; Methacrylic acid toxicity; Methacrylic aciduria; Valine metabolic defect; Beta-hydroxyisobutyryl coa deacylase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-@hydroxyisobutyryl-CoA hydrolase gene (HIBCH, 610690.0001);

Laboratory abnormalities : Increased lactate; Urinary excretion of cysteine and cysteamine conjugates of methacrylic acid; Increased hydroxy-C4-carnitine;

Prefixed ID : #250620;

Détails

Origin ID

250620;

UMLS CUI

C0342738;

Automatic exact mappings (from CISMeF team)
- Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH concept]
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH Supplementary Concept]
- Beta-hydroxyisobutyryl-CoA deacylase deficiency (disorder) [Inactive SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) [SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ICD-11 More detail]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ORDO Disease]
Genes related to phenotype
- 3-hydroxyisobutyryl-coa hydrolase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aminoaciduria [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental regression [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
ORDO concept(s)
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH Supplementary Concept]
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH concept]
- Beta-hydroxyisobutyryl-CoA deacylase deficiency (disorder) [Inactive SNOMED CT concept]
- Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) [SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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