KEGG DISEASE: Autosomal dominant lamellar ichthyosis

KEGG

DISEASE: Autosomal dominant lamellar ichthyosis

Entry

H02449                      Disease

Name

Autosomal dominant lamellar ichthyosis

Description

Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02449  Autosomal dominant lamellar ichthyosis

Gene

ASPRV1 [HSA:151516] [KO:K24552]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA

Title

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

Journal

Am J Hum Genet 107:158-163 (2020)
DOI:10.1016/j.ajhg.2020.05.013

Reference

Authors

Kolde G, Happle R, Traupe H

Title

Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis.

Journal

Arch Dermatol Res 278:1-5 (1985)
DOI:10.1007/BF00412487

LinkDB

» Japanese version

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