epidermolysis bullosa simplex with muscular dystrophy

Summary
Synonym
  • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
  • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Definition
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0090017
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8985 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024