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3-hydroxyisobutyryl-CoA hydrolase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009603

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. [ Orphanet:88639 ]

Synonyms: methacrylic aciduria 3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH deficiency neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:13202 (Orphanet:88639)
  • OMIM:250620 (Orphanet:88639/e)
  • MESH:C562803 (MONDO:equivalentTo)
  • SCTID:722488009 (MONDO:equivalentTo)
  • Orphanet:88639 (OMIM:250620)
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/4521

exactMatch

http://identifiers.org/mesh/C562803

http://www.orpha.net/ORDO/Orphanet_88639

https://omim.org/entry/250620

http://identifiers.org/snomedct/722488009

has related synonym

beta-hydroxyisobutyryl Coa deacylase deficiency

valine metabolic defect

Beta-hydroxyisobutyryl-CoA deacylase deficiency

methacrylic acid toxicity

HIBCHD

id

MONDO:0009603

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009603