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

ACTN1 COL17A1
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Autosomal dominant macrothrombocytopenia
Late-onset junctional epidermolysis bullosa

Synonym(s):
(no synonyms)

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

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

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

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

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