| H00648 | |
| H number | H00648 |
| Name | Ectodermal dysplasia, Clouston type; Clouston syndrome |
| Description | Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels. |
| Category | Congenital malformation |
| Network | - |
| Gene | GJB6 [HSA:10804] [KO:K07625] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.03 ICD-10: Q82.8 MeSH: D004476 OMIM: 129500 |
| Reference | PMID:19504607 AUTHORS Priolo M TITLE Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. JOURNAL Am J Med Genet A 149A:2003-13 (2009) DOI:10.1002/ajmg.a.32804 PMID:11546825 AUTHORS Priolo M, Lagana C TITLE Ectodermal dysplasias: a new clinical-genetic classification. JOURNAL J Med Genet 38:579-85 (2001) DOI:10.1136/jmg.38.9.579 PMID:8741874 AUTHORS Hassed SJ, Kincannon JM, Arnold GL TITLE Clouston syndrome: an ectodermal dysplasia without significant dental findings. JOURNAL Am J Med Genet 61:274-6 (1996) DOI:10.1002/(SICI)1096-8628(19960122)61:3<274::AID-AJMG13>3.0.CO;2-Q PMID:20301379 AUTHORS Der Kaloustian VM TITLE Hidrotic Ectodermal Dysplasia 2 JOURNAL GeneReviews (1993) PMID:11017065 (GJB6) AUTHORS Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G TITLE Mutations in GJB6 cause hidrotic ectodermal dysplasia. JOURNAL Nat Genet 26:142-4 (2000) DOI:10.1038/79851 |