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Clouston syndrome
Summary
- Synonym
-
- Clouston's hidrotic ectodermal dysplasia
- Clouston's syndrome
- Hidrotic ectodermal dysplasia syndrome
- ectodermal dysplasia 2, Clouston type
- hidrotic ectodermal dysplasia
- Definition
- An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:14693
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6652 | SORD | sorbitol dehydrogenase | |
| 8525 | DGKZ | diacylglycerol kinase zeta | |
| 8877 | SPHK1 | sphingosine kinase 1 | |
| 9468 | PCYT1B | phosphate cytidylyltransferase 1B, choline | |
| 11332 | ACOT7 | acyl-CoA thioesterase 7 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 51548 | SIRT6 | sirtuin 6 | |
| 285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
