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1 OMIM reference -
2 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Localized epidermolysis bullosa simplex
Pseudohypoaldosteronism type 2E

KRT14 CUL3
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
KRT5
(0.63)
(0.63)
CUL3
CUL3



Citations in the biomedical literature:


Localized epidermolysis bullosa simplex
KRT14 KRT5
Pseudohypoaldosteronism type 2E
CUL3



Localized epidermolysis bullosa simplex
Pseudohypoaldosteronism type 2E

Synonym(s):
- EBS-loc
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type

Synonym(s):
- PHA2E

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
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

Localized epidermolysis bullosa simplex

Very frequent
- Autosomal dominant inheritance
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Hyperhidrosis / increased sweating



Pseudohypoaldosteronism type 2E

(no data available)