Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy(Epidermolysa bullosa simplex and limb girdle muscular dystrophy) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PLEC/5339 | plectin | 8q24.3 | Chr8, NC_000008.11 (143915153..143976745, complement) |
61593 nt | 43 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities