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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
19 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex due to plakophilin deficiency

KRT14 PKP1
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
KRT5
(0.78)
(0.63)
PKP1
PKP1



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Epidermolysis bullosa simplex due to plakophilin deficiency
PKP1



Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex due to plakophilin deficiency

Synonym(s):
- EBS-MP

Synonym(s):
- Ectodermal dysplasia - skin fragility syndrome
- McGrath syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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 recessive

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
1 MeSH reference: C536183


COMMON
SIGNS
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex due to plakophilin deficiency

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation

Frequent
- Abnormal fingernails
- Bruisability
- Premature ageing



Very frequent
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Eyebrows anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Frequent
- Blepharitis / eyelid inflammation
- Dry / squaly skin / exfoliation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fissured / scrotal tongue
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Malabsorption / chronic diarrhea / steatorrhea
- Pruritus / itching

Occasional
- Woolly / frizzy hair