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 11 - 20 of 39 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024