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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 |
|---|---|---|---|
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2548 | GAA | alpha glucosidase | |
| 2990 | GUSB | glucuronidase beta | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
