New Term Request: Sorbitol dehydrogenase deficiency with peripheral neuropathy

[vjenkinsFB]

I'd like to request a term for sorbitol dehydrogenase deficiency with peripheral neuropathy. It has some overlap with Charcot-Marie-Tooth, and may be considered a subtype of CMT, you’ll need to decide that.

OMIM: https://omim.org/entry/618912

Potential definition: Sorbitol dehydrogenase deficiency with peripheral neuropathy has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.

Potential parent term: neuropathy, Charcot-Marie-Tooth?

Synonyms: SORDD, SORD-associated CMT neuropathy, distal hereditary motor neuropathy

ClinVar search term: SORD AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig vus"[Properties] or "clinsig uncertain risk allele"[Properties]) OR ("clinsig has conflicts"[Properties]) ) AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5394466/

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/11184

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/35596796/ Kramarz C, Rossor AM. Neurological update: hereditary neuropathies. J Neurol. 2022;269(9):5187-5191. doi:10.1007/s00415-022-11164-1
• https://pubmed.ncbi.nlm.nih.gov/33369814/ Frasquet M, Rojas-García R, Argente-Escrig H, et al. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation [published correction appears in Eur J Neurol. 2022 Mar;29(3):955]. Eur J Neurol. 2021;28(4):1334-1343. doi:10.1111/ene.14700
• https://pubmed.ncbi.nlm.nih.gov/33381078/ Xie Y, Lin Z, Pakhrin PS, et al. Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families. Front Neurol. 2020;11:603003. Published 2020 Dec 14. doi:10.3389/fneur.2020.603003
• https://pubmed.ncbi.nlm.nih.gov/33875678/ Laššuthová P, Mazanec R, Staněk D, et al. Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. Sci Rep. 2021;11(1):8443. Published 2021 Apr 19. doi:10.1038/s41598-021-86857-0
• https://pubmed.ncbi.nlm.nih.gov/33314640/ Yuan RY, Ye ZL, Zhang XR, Xu LQ, He J. Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. Ann Clin Transl Neurol. 2021;8(1):266-270. doi:10.1002/acn3.51268
• https://pubmed.ncbi.nlm.nih.gov/33397963/ Dong HL, Li JQ, Liu GL, Yu H, Wu ZY. Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy. NPJ Genom Med. 2021;6(1):1. Published 2021 Jan 4. doi:10.1038/s41525-020-00165-6

FlyBase paper(s) to curate with this term: FBrf0245621

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

[csbjohnson]

Thank you very much for your term request for sorbitol dehydrogenase deficiency with peripheral neuropathy, @vjenkinsFB.

We'll review it, get back to you soon and update the DO for the next release.

[lschriml]

adding this new term as a child of neuromuscular disease, a sibling term to Charcot-Marie-Tooth

[lschriml]

done

[allenbaron]

This disease was accidentally added in the June 2023 release (v2023-06-29) with a duplicate IRI (http://purl.obolibrary.org/obo/DOID_0080025) matching a historically obsoleted disease, and this error persisted in the July releases (v2023-07-20 & v2023-07-24). We have deleted that IRI and re-created the disease with a new, unique IRI (http://purl.obolibrary.org/obo/DOID_0081376) in the latest release v2023-08-08. If you have used this disease with DOID:0080025, please update to DOID:0081376.

We apologize for any inconvenience this may cause.

@vjenkinsFB