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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 3
Epidermolysis bullosa simplex with mottled pigmentation
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

KRT14 CTNNA3
KRT5 DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
KRT14
KRT5
(0.78)
(0.63)
(0.58)
PKP2
PKP2
DSP



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Epidermolysis bullosa simplex with mottled pigmentation
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

Synonym(s):
- EBS-MP

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant 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: C535959
External references:
No OMIM references
No MeSH references

Epidermolysis bullosa simplex with mottled pigmentation

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

(no data available)