1. Genes and Genomic Entities
  2. SORD

SORD

sorbitol dehydrogenase
OMIM: 182500, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
No list SORD in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.2
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review
    Phenotypes
    • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
    • Neuropathy, distal hereditary motor, OMIM:158590
    Green SORD in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
    • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055
    Green SORD in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.4
    Latest signed off version: v8.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912
    • sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055