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Epidermolysis bullosa simplex, Ogna type

1 OMIM reference -
1 associated gene
41 connected diseases
8 signs/symptoms

Disease	Type of connection
Epidermolysis bullosa simplex with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Amyotrophic lateral sclerosis
Extraskeletal myxoid chondrosarcoma
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Pulverulent cataract
Estrogen resistance syndrome
17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Fibronectin glomerulopathy
Heritable pulmonary arterial hypertension
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Spastic paraplegia - Paget disease of bone
Weaver syndrome
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Hereditary spherocytosis
Melanoma of soft part
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease

Synonym(s): - EBS-O

Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - 1 MeSH reference: C535962

Gene symbol	UniProt reference	OMIM reference
PLEC	Q15149	601282

Very frequent

- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent

- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy