SORD Chromosome 15
Sorbitol dehydrogenase
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What This Gene Does
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
Associated Conditions (6)
Inborn genetic diseases
Neuronopathy
distal hereditary motor
autosomal recessive 8
Idiopathic environmental intolerance
Neuromuscular disease
Key Variants
RS560288236
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745509632
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS750210485
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS753424622
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS2504702178
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS925016698
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS1267443415
Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS2504680805
Pathogenic
Health Risk
RS2504718500
Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS535669510
Pathogenic
Health Risk
RS746985755
Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
RS765674420
Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 8
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS560288236 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745509632 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS750210485 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS753424622 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS2504702178 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS925016698 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS1267443415 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS2504680805 | Health Risk | Pathogenic | — |
| RS2504718500 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS535669510 | Health Risk | Pathogenic | — |
| RS746985755 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS765674420 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS145813597 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |
| RS55901542 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 |