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Quebec platelet disorder
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital plasminogen activator inhibitor type 1 deficiency
Donnai-Barrow syndrome
Burkitt lymphoma
Hypoplasminogenemia
Ligneous conjunctivitis
Precursor T-cell acute lymphoblastic leukemia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Congenital alpha2 antiplasmin deficiency
Ichthyosis-hypotrichosis syndrome
Synonym(s):
- Factor V Quebec
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536260
Gene symbol UniProt reference OMIM reference
PLAU P00749191840
No signs/symptoms info available.