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Wolfram syndrome 1
Summary
- Synonym
-
- DIDMOAD
- WFS1
- diabetes mellitus AND insipidus with optic atrophy AND deafness
- Definition
- An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
- Super Class
- Wolfram syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110629
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21964 | Catechol O-methyltransferase |
