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isobutyryl-CoA dehydrogenase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012648

An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). [ Orphanet:79159 ]

Synonyms: isobutyryl-CoA dehydrogenase deficiency isobutyric aciduria

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79159 (OMIM:611283)
  • NCIT:C129975 (MONDO:equivalentTo)
  • UMLS:C1969809 (Orphanet:79159/e)
  • OMIM:611283 (Orphanet:79159/e)
  • GARD:10223 (Orphanet:79159)
  • MESH:C535541 (Orphanet:79159/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

https://github.com/monarch-initiative/mondo/issues/324

exactMatch

http://www.orpha.net/ORDO/Orphanet_79159

https://omim.org/entry/611283

http://purl.obolibrary.org/obo/NCIT_C129975

http://identifiers.org/mesh/C535541

http://linkedlifedata.com/resource/umls/id/C1969809

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016337

has related synonym

acyl-CoaA dehydrogenase family, member 8, deficiency of

acyl-Coa dehydrogenase family, member 8, deficiency of

IBD deficiency

Acad8 deficiency

id

MONDO:0012648

seeAlso

https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency

https://search.clinicalgenome.org/kb/conditions/MONDO:0012648

Term relations