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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Epidermolysis bullosa simplex, Ogna type
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

PLEC CTNNA3
DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.49)
JUP



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Epidermolysis bullosa simplex, Ogna type
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

Synonym(s):
- EBS-O

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
- Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, classic form

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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



Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

(no data available)