KEGG DISEASE: 限局性顔皮膚異形成

DISEASE: 限局性顔皮膚異形成

エントリ

H02083

名称

限局性顔皮膚異形成

概要

The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02083  限局性顔皮膚異形成

病因遺伝子

(FFDD3) TWIST2 [HSA:117581] [KO:K09069]
(FFDD4) CYP26C1 [HSA:340665] [KO:K12665]

The genetic defects causing FFDD1 and FFDD2 remain unknown.

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:28663233

著者

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ

タイトル

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

雑誌

J Med Genet 54:585-590 (2017)
DOI:10.1136/jmedgenet-2017-104561

文献

PMID:23161670

著者

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ

タイトル

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

雑誌

Hum Mol Genet 22:696-703 (2013)
DOI:10.1093/hmg/dds477

文献

PMID:21931173

著者

Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ

タイトル

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

雑誌

J Med Genet 48:716-20 (2011)
DOI:10.1136/jmedgenet-2011-100251

LinkDB

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