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1 OMIM reference -
2 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease

KRT14 KRT5
KRT5 POFUT1
POGLUT1


COMMON
GENES
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
(0.69)
KRT5



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Dowling-Degos disease
POFUT1 POGLUT1



Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease

Synonym(s):
- EBS-MP

Synonym(s):
- Reticular pigment anomaly of flexures

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -

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: unknown
Average age onset: adolescence / young
Average age of death: normal
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



Dowling-Degos disease

(no data available)