Details of Disease

General Information of Disease (ID: DISAIFGB)

Disease Name Epidermolysis bullosa simplex due to plakophilin deficiency
Synonyms
ectodermal dysplasia - skin fragility syndrome; Mcgrath syndrome; ectodermal dysplasia/skin fragility syndrome; ectodermal dysplasia skin fragility syndrome; ectodermal dysplasia-skin fragility syndrome; McGrath syndrome
Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISB0VD1: Suprabasal epidermolysis bullosa simplex
DISAIFGB: Epidermolysis bullosa simplex due to plakophilin deficiency
Disease Identifiers
MONDO ID
MONDO_0011472
MESH ID
C536183
UMLS CUI
C1858302
OMIM ID
604536
MedGen ID
388032
Orphanet ID
158668
SNOMED CT ID
716699004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSP OTB2MOP8 Limited Genetic Variation [1]
PKP1 OT9HSQ8F Definitive Autosomal recessive [2]
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References

1 Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.Br J Dermatol. 2009 Mar;160(3):692-7. doi: 10.1111/j.1365-2133.2008.08900.x. Epub 2008 Oct 21.
2 Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol. 2012 Feb;53(1):61-5. doi: 10.1111/j.1440-0960.2011.00846.x. Epub 2011 Dec 29.