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4 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
18 signs/symptoms
Dowling-Degos disease
Epidermolysis bullosa simplex, Dowling-Meara type

KRT5 KRT14
POFUT1 KRT5
POGLUT1


COMMON
GENES
KRT5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Epidermolysis bullosa simplex, Dowling-Meara type
KRT14



Dowling-Degos disease
Epidermolysis bullosa simplex, Dowling-Meara type

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
- Epidermolysis bullosa simplex, herpetiformis

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

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

Epidermolysis bullosa simplex, Dowling-Meara type

Very frequent
- Abnormal fingernails
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal dominant inheritance
- Mucosal / cutaneous hemorrhage
- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal scarring / cheloids / hypertrophic scars
- Constipation
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Skin hypoplasia / aplasia / atrophy
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Dowling-Degos disease

(no data available)