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1 OMIM reference -
2 associated genes
10 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
2 associated genes
17 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

KRT14 KRT14
KRT5 KRT5


COMMON
GENES
KRT14
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
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type



Epidermolysis bullosa simplex with mottled pigmentation
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Synonym(s):
- EBS-MP

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

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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

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

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
1 MeSH reference: C535961


COMMON
SIGNS
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Epidermolysis bullosa simplex with mottled pigmentation
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Irregular / patchy skin hypopigmentation

Frequent
- Abnormal fingernails
- Bruisability
- Premature ageing



Very frequent
- Autosomal recessive inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity

Frequent
- Enamel anomaly
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Ptosis
- Respiratory rhythm disorder

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