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 1 - 10 of 39 in total
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
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