PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
MONDO:1060109Mondo
Findings
No curated finding names PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.
Definition from the Mondo Disease Ontology (MONDO:1060109), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLECHGNC:9069
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of