Closed vjenkinsFB closed 1 month ago
Hi @vjenkinsFB,
Thank you for your request . We'll review your new term request for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Best, Claudia Marie Sánchez-Beato Johnson
This disease will be in the next release as '3-hydroxy-3-methylglutaryl-CoA lyase deficiency' (DOID:0070541).
I'd like to request a term for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
OMIM: https://www.omim.org/entry/246450
Potential definition: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.
Potential parent term: amino acid metabolic disorder
Synonyms: HMG-CoA lyase deficiency; HMGCL deficiency; HL deficiency; hydroxymethylglutaric aciduria; deficiency of hydroxymethylglutaryl-CoA lyase
ClinVar search term: HMGCL AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])
MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C0268601 Deficiency of hydroxymethylglutaryl-CoA lyase
MalaCards page: https://www.malacards.org/card/3_hydroxy_3_methylglutaryl_coa_lyase_deficiency
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5005
Citations other than those in the OMIM entry:
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!