GenTIGSA Gene Database on Rare Genetic Disorders
Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency  
Disease Aliases (10)

Dsp-related ectodermal dysplasia/skin fragility syndrome

Edsfs

Ectodermal dysplasia/skin fragility syndrome

Ectodermal dysplasia - skin fragility syndrome

Ectodermal dysplasia skin fragility syndrome

Ectodermal dysplasia- skin fragility syndrome

Ectodermal dysplasia-skin fragility syndrome

Epidermolysis bullosa simplex due to plakophilin deficiency

Mcgrath syndrome

Pkp1-related ectodermal dysplasia/skin fragility syndrome

Associated Genes (1)
 

NCBI-RefSeq:  PKP1   (Plakophilin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Epidermolysis bullosa simplex due to plakophilin deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations