KEGG DISEASE: Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE

KEGG

DISEASE: Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE

Entry

H03008                      Disease

Name

Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE

Description

Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (EPKHE) is a rare genetic syndrome characterized by severe dermatitis, multiple allergies, and metabolic wasting. Pathogenic variants in DSG1 have been identified as the cause of this disorder. DSG1 encodes desmoglein 1, a key component of desmosomes, which anchor the cell surface to the keratin cytoskeleton and play an essential role in maintaining epidermal integrity and barrier function.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H03008  Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06549  Cadherin signaling
   H03008  Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE

Pathway

hsa04519 Cadherin signaling

Network

nt06549 Cadherin signaling

Gene

DSG1 [HSA:1828] [KO:K07596]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E

Title

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Journal

Nat Genet 45:1244-1248 (2013)
DOI:10.1038/ng.2739

LinkDB

» Japanese version

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