Clouston syndrome

Preferred Label : Clouston syndrome;

CISMeF acronym : ECTD2; HED2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HED2; Ectodermal dysplasia 2, clouston type; Clouston hidrotic ectodermal dysplasia; Ectodermal dysplasia, hidrotic, 2; ECTD2; Ectodermal dysplasia, hidrotic, autosomal dominant;

Description : The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by Kibar et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the gap junction protein, beta-6 gene (GJB6, 604418.0002);

Prefixed ID : #129500;

Détails

Origin ID

129500;

UMLS CUI

C0162361;

Currated CISMeF NLP mapping
- Clouston syndrome [DO Concept]
- Clouston syndrome [MedDRA LLT]
- Hidrotic ectodermal dysplasia [MedDRA LLT]
- Hidrotic ectodermal dysplasia [ORDO Disease]
- Hidrotic ectodermal dysplasia [HPO term]
- Hidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- hidrotic ectodermal dysplasia [MeSH concept]
- hidrotic ectodermal dysplasia syndrome [SNOMED Notion]
DO Cross reference
- Clouston syndrome [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-6 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the hand [HPO term]
- Absent axillary hair [HPO term]
- Absent pubic hair [HPO term]
- Alopecia [HPO term]
- Alopecia totalis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharitis [HPO term]
- Brittle hair [HPO term]
- Cataract [HPO term]
- Conjunctivitis [HPO term]
- Ectodermal dysplasia [HPO term]
- Fine hair [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Onychodystrophy, severe [HPO term]
- Onycholysis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Photophobia [HPO term]
- Short stature [HPO term]
- Slow-growing hair [HPO term]
- Small nail [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
- fine, brittle, slow-growing hair [HPO term]
ORDO concept(s)
- Hidrotic ectodermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- ZYX wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Clouston syndrome [MedDRA LLT]
- Clouston syndrome [DO Concept]
- Hidrotic ectodermal dysplasia [ORDO Disease]
- Hidrotic ectodermal dysplasia [MedDRA LLT]
- Hidrotic ectodermal dysplasia [HPO term]
- Hidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- hidrotic ectodermal dysplasia [MeSH concept]
- hidrotic ectodermal dysplasia syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- ectodermal dysplasia [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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