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Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Synonym(s):
- Upshaw-Schulman syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADAMTS13 Q76LX8604134
No signs/symptoms info available.