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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SORD
sorbitol dehydrogenase
Chromosome 15 Β· 15q21.1
NCBI Gene: 6652Ensembl: ENSG00000140263.16HGNC: HGNC:11184UniProt: Q00796
96PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fructose biosynthetic processxylitol metabolic processL-iditol 2-dehydrogenase (NAD+) activityextracellular exosomeneuronopathy, distal hereditary motor, autosomal recessive 8genetic disorderCharcot-Marie-Tooth diseaseneuromuscular disease
✦AI Summary

SORD (sorbitol dehydrogenase) is a polyol dehydrogenase that catalyzes the NAD(+)-dependent oxidation of sorbitol to fructose, serving as a key enzyme in the polyol pathway for glucose metabolism 1. The enzyme acts on multiple sugar alcohol substrates including D-sorbitol, xylitol, and ribitol, converting them to their C2-oxidized products [UniProt via abstracts]. SORD has clinical significance as biallelic mutations in SORD represent the most frequent autosomal recessive form of hereditary distal motor neuropathy (dHMN) 12. Loss-of-function mutations cause accumulation of intracellular sorbitol and elevated serum sorbitol levels in patients, with Drosophila studies demonstrating that SORD loss leads to synaptic degeneration and motor impairment 1. Critically, aldose reductase inhibitors normalize sorbitol levels and ameliorate motor phenotypes, establishing SORD-related neuropathy as potentially treatable 1. The polyol pathway dysfunction in SORD mutations mirrors pathomechanisms implicated in diabetic neuropathy, linking this gene to metabolic complications of hyperglycemia 1. Additionally, SORD participates in glucose/fructose metabolism relevant to cancer progression, with emerging evidence suggesting polyol pathway activation affects cancer cell metastasis 3. Current clinical trials (CMT-SORD trial) are investigating govorestat as a therapeutic option 4.

Sources cited
1
Biallelic SORD mutations cause the most frequent recessive hereditary neuropathy; loss of SORD protein leads to increased intracellular and serum sorbitol; aldose reductase inhibitors ameliorate motor and eye phenotypes in patient cells and Drosophila models
PMID: 32367058
2
SORD mutations are the most frequent cause of autosomal recessive distal hereditary motor neuropathy
PMID: 35942667
3
SORD gene mutations of autosomal recessive transmission are associated with dHMN and appear relatively frequent and potentially curable
PMID: 38702287
4
SORD-related neuropathy has emerged as a new subtype of hereditary neuropathy
PMID: 37851041
5
CMT-SORD trial interim analysis results suggest govorestat may become the first approved CMT drug for SORD-related neuropathy
PMID: 40014417
6
SORD catalyzes the reverse reaction in the polyol pathway, elevating the NAD+/NADH ratio and affecting glucose/fructose metabolism in cancer cell progression
PMID: 40973819
Disease Associationsβ“˜21
neuronopathy, distal hereditary motor, autosomal recessive 8Open Targets
0.77Strong
genetic disorderOpen Targets
0.45Moderate
Charcot-Marie-Tooth diseaseOpen Targets
0.38Weak
neuromuscular diseaseOpen Targets
0.34Weak
Iron deficiency anemiaOpen Targets
0.25Weak
benign neoplasm of eyeOpen Targets
0.19Weak
meningeal neoplasmOpen Targets
0.14Weak
gastrointestinal stromal tumorOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
MODYOpen Targets
0.10Weak
renal cell carcinomaOpen Targets
0.10Weak
Total congenital cataractOpen Targets
0.10Suggestive
ovarian neoplasmOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
type 1 diabetes mellitusOpen Targets
0.10Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
Neuronopathy, distal hereditary motor, autosomal recessive 8UniProt
Pathogenic Variants11
NM_003104.6(SORD):c.757del (p.Ala253fs)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8|Inborn genetic diseases|not provided|Idiopathic environmental intolerance|Neuromuscular disease
β˜…β˜…β˜†β˜†2026β†’ Residue 253
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)Pathogenic
not provided|Neuronopathy, distal hereditary motor, autosomal recessive 8|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_003104.6(SORD):c.298C>T (p.Arg100Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 100
NM_003104.6(SORD):c.776C>T (p.Ala259Val)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_003104.6(SORD):c.908+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003104.6(SORD):c.112dup (p.Arg38fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 38
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
β˜…β˜†β˜†β˜†2023β†’ Residue 25
NM_003104.6(SORD):c.895C>T (p.Arg299Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
β˜†β˜†β˜†β˜†2023β†’ Residue 299
NM_003104.6(SORD):c.731C>T (p.Pro244Leu)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
β˜†β˜†β˜†β˜†2023β†’ Residue 244
NM_003104.6(SORD):c.851T>C (p.Leu284Pro)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
β˜†β˜†β˜†β˜†2023β†’ Residue 284
NM_003104.6(SORD):c.361G>C (p.Ala121Pro)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
β˜†β˜†β˜†β˜†β†’ Residue 121
View on ClinVar β†—
Related Genes
AKR1B1Protein interaction100%XYLBProtein interaction99%HK1Protein interaction96%HK2Protein interaction96%HK3Protein interaction96%KHKProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Brain
7%
Heart
3%
Bone Marrow
2%
Ovary
2%
Lung
2%
Gene Interaction Network
Click a node to explore
SORDAKR1B1XYLBHK1HK2HK3KHK
PROTEIN STRUCTURE
Preparing viewer…
PDB1PL8 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.56 [0.35–0.93]
RankingsWhere SORD stands among ~20K protein-coding genes
  • #5,002of 20,598
    Most Researched96 Β· top quartile
  • #2,754of 5,498
    Most Pathogenic Variants11
  • #8,573of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedSORD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Distal hereditary motor neuropathies.
PMID: 38702287
Rev Neurol (Paris) Β· 2024
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
PMID: 32367058
Nat Genet Β· 2020
0.80
4
Hereditary motor neuropathies.
PMID: 35942667
Curr Opin Neurol Β· 2022
0.70
5
Hereditary motor neuropathies.
PMID: 32796276
Curr Opin Neurol Β· 2020
0.60