KEGG DISEASE: Atrichia with papular lesions

KEGG

DISEASE: Atrichia with papular lesions

Entry

H00780                      Disease

Name

Atrichia with papular lesions

Description

Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.

Category

Skin disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00780  Atrichia with papular lesions

Gene

HR [HSA:55806] [KO:K00478]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Yip L, Horev L, Sinclair R, Zlotogorski A

Title

Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.

Journal

Acta Derm Venereol 88:346-9 (2008)
DOI:10.2340/00015555-0466

Reference

Authors

Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W

Title

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.

Journal

J Dermatol 38:755-60 (2011)
DOI:10.1111/j.1346-8138.2010.01151.x

Reference

Authors

Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS

Title

Detection of a novel missense mutations in atrichia with papular lesions.

Journal

Ann Dermatol 23:132-7 (2011)
DOI:10.5021/ad.2011.23.2.132

Reference

Authors

Wang J, Malloy PJ, Feldman D

Title

Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.

Journal

J Biol Chem 282:25231-9 (2007)
DOI:10.1074/jbc.M702939200

LinkDB

» Japanese version

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