Cytoscape Web
Click node...


4 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
17 signs/symptoms
Dowling-Degos disease
Generalized epidermolysis bullosa simplex, non-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
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
KRT14



Dowling-Degos disease
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Generalized EBS, non-Dowling-Meara type

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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535961

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Very frequent
- Autosomal recessive inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Palmoplantar hyperkeratosis / keratoderma
- Ptosis
- Respiratory rhythm disorder

Occasional
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myasthenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Dowling-Degos disease

(no data available)