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1 OMIM reference -
1 associated gene
8 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

PLEC PLEC


COMMON
GENES
PLEC



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Autosomal recessive limb-girdle muscular dystrophy type 2Q



Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Synonym(s):
- EBS-O

Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- LGMD2Q

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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: childhood
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

Epidermolysis bullosa simplex, Ogna type

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



Autosomal recessive limb-girdle muscular dystrophy type 2Q

(no data available)