Clouston Syndrome (ECTD2)

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Disease Ontology 12 DOID:14693 OMIM 58 129500 MeSH 45 D004476 SNOMED-CT 69 54209007 ICD10 via Orphanet 35 Q82.8

UMLS via Orphanet 75 C0162361 Orphanet 60 ORPHA189 MedGen 43 C0162361 SNOMED-CT via HPO 70 11375002 128306009 128602000 193570009 19754005 22066006 231796003 237836003 246622003 247053007 247487009 247546006 249769001 249808002 25159003 254154003 263681008 268251006 278040002 34048007 386806002 397932003 409668002 41446000 422775003 46742003 4830009 49765009 52897009 53148007 53602002 56317004 56558005 706885006 75789001 81793007 8654005 87065009 9826008 more UMLS 74 C0013575 C0162361

NIH Rare Diseases : ⁵⁴ Clouston syndrome is a form of ectodermal dysplasia that is characterized by abnormalities of the skin, hair and nails. Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale. Progressive hair loss may lead to total alopecia by puberty. Affected people may also have palmoplantar hyperkeratosis (thick skin on the palms of the hands and soles of the feet), hyperpigmentation of skin (especially over joints) and/or clubbing of the fingers. Clouston syndrome is caused by changes (mutations) in the GJB6 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Clouston Syndrome, also known as ectodermal dysplasia 2, clouston type, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant, and has symptoms including photophobia An important gene associated with Clouston Syndrome is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are G-Beta Gamma Signaling and Development Slit-Robo signaling. Affiliated tissues include skin and eye, and related phenotypes are alopecia and irregular hyperpigmentation

Genetics Home Reference : ²⁶ Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.

OMIM : ⁵⁸ 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). (129500)

UniProtKB/Swiss-Prot : ⁷⁶ Ectodermal dysplasia 2, Clouston type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.

Wikipedia : ⁷⁷ Clouston''s hidrotic ectodermal dysplasia (also known as "Alopecia congenita with keratosis... more...

Clinical features from OMIM:

129500

Search Clinical Trials , NIH Clinical Center for Clouston Syndrome

Search GEO for disease gene expression data for Clouston Syndrome.