Closed vjenkinsFB closed 1 month ago
Hi @vjenkinsFB,
Thank you for your request . We'll review your new term request for 3-hydroxyisobutryl-CoA hydrolase deficiency.
Best, Claudia Marie Sánchez-Beato Johnson
Agreed, this will be added as a child of : amino acid metabolic disorder
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370149/ 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism.
OMIM:250620 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY ORPHA:88639 https://www.orpha.net/en/disease/detail/88639
synonyms: HIBCH deficiency Methacrylic aciduria Valine metabolic defect
Hi @vjenkinsFB,
Thank you for your request. I have implemented the additions discussed, and they will be reflected in the next Disease Ontology Release.
Have a great day!
I'd like to request a term for 3-hydroxyisobutryl-CoA hydrolase deficiency.
OMIM: https://omim.org/entry/246900
Potential definition: Dihydrolipoamide dehydrogenase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.
Potential parent term: amino acid metabolic disorder
Synonyms: Beta-hydroxyisobutyryl coa deacylase deficiency, HIBCH deficiency, methacrylic aciduria; methacrylic acid toxicity; valine metabolic defect; HIBCHD
ClinVar search term: hibch AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])
MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C0342738 Beta-hydroxyisobutyryl-CoA deacylase deficiency
MalaCards page: https://www.malacards.org/card/3_hydroxyisobutyryl_coa_hydrolase_deficiency
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4908
Citations other than those in the OMIM entry (many more are available, this seems to be an active field):
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!