Details of Disease | DrugMAP

General Information of Disease (ID: DISI2OS3)

Disease Name	Neuronopathy, distal hereditary motor, autosomal recessive 8
Synonyms	sorbitol dehydrogenase deficiency; SORDD; sorbitol dehydrogenase deficiency with peripheral neuropathy
Disease Hierarchy	DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive DISI2OS3: Neuronopathy, distal hereditary motor, autosomal recessive 8
Disease Identifiers	MONDO ID MONDO_0030055 UMLS CUI C5394466 OMIM ID 618912 MedGen ID 1714781

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SORD	DEWU03P	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SORD	OTC44CR6	Strong	Autosomal recessive	[1]
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References

1	Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.