| Disease ID | Source | Name | Description |
| 612138 | OMIM | Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) | Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS. The disease is caused by variants affecting the gene represented in this entry. |
| 616487 | OMIM | Epidermolysis bullosa simplex with nail dystrophy (EBSND) | A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy. The disease is caused by variants affecting the gene represented in this entry. |
| 613723 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMDR17) | A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. The disease is caused by variants affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin. |
| 226670 | OMIM | Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) | A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy. The disease is caused by variants affecting the gene represented in this entry. |
| 131950 | OMIM | Epidermolysis bullosa simplex, Ogna type (O-EBS) | A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. The disease is caused by variants affecting the gene represented in this entry. |