New Term Request: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.

OMIM: https://www.omim.org/entry/619121

Potential definition: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.

Potential parent term: amino acid metabolic disorder

Synonyms: NEDCASB; SHMT2-related condition

ClinVar search term: SHMT2[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/C5436848

MalaCards page: https://www.malacards.org/card/neurodevelopmental_disorder_with_cardiomyopathy_spasticity_and_brain_abnormalities HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10852

Citations other than those in the OMIM entry:

• 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/36959541/ Fiddler JL, Blum JE, Heyden KE, Castillo LF, Thalacker-Mercer AE, Field MS. Impairments in SHMT2 expression or cellular folate availability reduce oxidative phosphorylation and pyruvate kinase activity. Genes Nutr. 2023;18(1):5. Published 2023 Mar 24. doi:10.1186/s12263-023-00724-3

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

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request . We'll review your new term request for Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.

Best, Claudia Marie Sánchez-Beato Johnson

[allenbaron]

This disease will be in the next release as 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' (DOID:0070543).

Given it's importance in multiple mitochondrial processes, including amino acid metabolism, folate metabolism, and mitochondrial translation/homeostasis (see PMCID: PMC7665968), it has been primarily classified as a 'mitochondrial metabolism disease' but it will also be a child of 'amino acid metabolic disorder'.