New Term Request: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

[vjenkinsFB]

I'd like to request a term for mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.

OMIM: https://www.omim.org/entry/616277

Potential definition: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency has_material_basis_in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.

Potential parent term: amino acid metabolic disorder

Synonyms: ECHS1D; ECHS1 deficiency

ClinVar search term: ECHS1 AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4225391

MalaCards page: https://www.malacards.org/card/mitochondrial_short_chain_enoyl_coa_hydratase_1_deficiency

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3151

Citations other than those in the OMIM entry (more available):

• https://pubmed.ncbi.nlm.nih.gov/38416643/ Martelli F, Lin J, Mele S, et al. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024;43(3):113861. doi:10.1016/j.celrep.2024.113861
• https://pubmed.ncbi.nlm.nih.gov/35856138/ Ozlu C, Chelliah P, Dahshi H, et al. ECHS1 deficiency and its biochemical and clinical phenotype. Am J Med Genet A. 2022;188(10):2908-2919. doi:10.1002/ajmg.a.62895
• https://pubmed.ncbi.nlm.nih.gov/29882869/ Sharpe AJ, McKenzie M. Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. Cells. 2018;7(6):46. Published 2018 May 23. doi:10.3390/cells7060046
• https://pubmed.ncbi.nlm.nih.gov/35206276/ Muntean C, Tripon F, Bogliș A, Bănescu C. Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review. Int J Environ Res Public Health. 2022;19(4):2088. Published 2022 Feb 13. doi:10.3390/ijerph19042088

FlyBase paper(s) to curate with this term: FBrf0259145

My contact info: [email protected] (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request . We'll review your new term request for Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.

Best, Claudia Marie Sánchez-Beato Johnson

[allenbaron]

This disease will be in the next release as 'mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' (DOID:0070540).