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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
13 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex with mottled pigmentation
Hereditary breast and ovarian cancer syndrome

KRT14 BARD1
KRT5 BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
(0.63)
PTEN



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



Epidermolysis bullosa simplex with mottled pigmentation
Hereditary breast and ovarian cancer syndrome

Synonym(s):
- EBS-MP

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
4 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



Hereditary breast and ovarian cancer syndrome

(no data available)