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
Displaying entries 31 - 39 of 39 in total
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
Displaying entry 31 - 31 of 31 in total
UniProt ID Protein Name Source
Q9P2W7 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

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Last updated: August 19, 2024