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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 |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 32 | ACACB | acetyl-CoA carboxylase beta | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 247 | ALOX15B | arachidonate 15-lipoxygenase type B | |
| 410 | ARSA | arylsulfatase A | |
| 929 | CD14 | CD14 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1462 | VCAN | versican | |
| 1486 | CTBS | chitobiase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
