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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Epidermolysis bullosa simplex with circinate migratory erythema

DSP KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.58)
KRT5



Citations in the biomedical literature:


Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP
Epidermolysis bullosa simplex with circinate migratory erythema
KRT5



Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Epidermolysis bullosa simplex with circinate migratory erythema

Synonym(s):
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Synonym(s):
- EBS-migr

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Epidermolysis bullosa simplex with circinate migratory erythema

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Skin fragility-woolly hair-palmoplantar keratoderma syndrome

(no data available)