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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.
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
The text was updated successfully, but these errors were encountered:
vjenkinsFB
changed the title
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
New Term Request: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Apr 30, 2024
Thank you for your request . We'll review your new term request for Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
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'.
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:
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!
The text was updated successfully, but these errors were encountered: