Details of Disease

General Information of Disease (ID: DIS739SC)

Disease Name Epidermolysis bullosa simplex 5B, with muscular dystrophy
Synonyms
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; MD-EBS; epidermolysis bullosa simplex - limb girdle muscular dystrophy; Epidermolysa bullosa simplex with muscular dystrophy; EBSMD; MDEBS; epidermolysis bullosa simplex and limb-girdle muscular dystrophy; epidermolysis bullosa simplex with muscular dystrophy; limb-girdle muscular dystrophy with epidermolysis bullosa simplex; epidermolysis bullosa simplex 5B, with muscular dystrophy; EBS-MD
Definition A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DIS6SVEE: Syndromic disease
DISXWQDY: Qualitative or quantitative defects of plectin
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DIS739SC: Epidermolysis bullosa simplex 5B, with muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0009181
MESH ID
C535955
UMLS CUI
C2931072
OMIM ID
226670
MedGen ID
418981
Orphanet ID
257
SNOMED CT ID
723308003

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
NAT9 OT4ZKCRS Strong Genetic Variation [1]
PLEC OTU4XDEG Strong Autosomal recessive [2]
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References

1 Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.Int J Dermatol. 2015 Feb;54(2):185-7. doi: 10.1111/ijd.12655. Epub 2014 Sep 10.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.