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1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
No signs/symptoms info
Late-onset junctional epidermolysis bullosa
Autosomal dominant macrothrombocytopenia

COL17A1 ACTN1
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL17A1
(0.86)
ACTN1



Citations in the biomedical literature:


Late-onset junctional epidermolysis bullosa
COL17A1
Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1



Late-onset junctional epidermolysis bullosa
Autosomal dominant macrothrombocytopenia

Synonym(s):
- EB progressive
- JEB-lo

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

Late-onset junctional epidermolysis bullosa

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



Autosomal dominant macrothrombocytopenia

(no data available)