Closed vjenkinsFB closed 1 month ago
Hi @vjenkinsFB,
Thank you for your request . We'll review your new term request for Hypervalinemia and hyperleucine-isoleucinemia.
Best, Claudia Marie Sánchez-Beato Johnson
Thank you Victoria, agreed, this will be added as a child of 'amino acid metabolic disorder'.
Cheers, Lynn
Hi @vjenkinsFB,
Thank you for your request. I have implemented the addition, and it will be reflected in the next Disease Ontology Release.
Have a great day!
I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism disorders, so I’m including some reviews on the topic below that I won’t include in future tickets, because they will probably be relevant to many or all of them. Future tickets will just have links to papers about the specific disease requested and not general reviews on the topic of amino acid metabolic disorders.
OMIM: https://omim.org/entry/618850
Potential definition: Hypervalinemia and hyperleucine-isoleucinemia has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
Potential parent term: amino acid metabolic disorder
Synonyms: branched-chain aminotransferase 2 deficiency; HVLI
ClinVar search term: bcat2[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])
MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5394277
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:977
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!