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GENE - TERM ANNOTATION REPORT

RGD ID: 1308392
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hibch
Name: 3-hydroxyisobutyryl-CoA hydrolase
Acc ID: DOID:9008784
Term: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Definition: An autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hibch ISOHIBCH (Homo sapiens)7240710OMIM  
Hibch ISOHIBCH (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hibch ISOHIBCH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiencyPMID:16199547 PMID:17160907 PMID:17576681 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:27896122 PMID:28454995 PMID:28492532 PMID:29703962 PMID:30111474 PMID:32022391 PMID:32677093 PMID:33762937 PMID:7122152 PMID:9536098
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