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1 OMIM reference -
1 associated gene
8 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
14 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy

PLEC PLEC


COMMON
GENES
PLEC



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Epidermolysis bullosa simplex with muscular dystrophy



Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy

Synonym(s):
- EBS-O

Synonym(s):
- EBS-MD
- Limb girdle dystrophy with epidermolysis bullosa simplex

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Follicular / erythematous / edematous papules / milium
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses

Frequent
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies



Very frequent
- Alopecia
- Autosomal recessive inheritance
- Muscle weakness / flaccidity
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic / hyperconvex fingernails

Frequent
- Enamel anomaly
- Ptosis

Occasional
- Asthenia / fatigue / weakness
- Myasthenia