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Glanzmann thrombasthenia
1 OMIM reference -
2 associated genes
77 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant macrothrombocytopenia
Fetal and neonatal alloimmune thrombocytopenia
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Idiopathic hypereosinophilic syndrome
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
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
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Gastrointestinal stromal tumor
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRA rearrangement
Myeloid neoplasm associated with PDGFRB rearrangement
Precursor B-cell acute lymphoblastic leukemia
Unclassified chronic myeloproliferative disease
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Posterior polar cataract
Spondylocarpotarsal synostosis
Terminal osseous dysplasia - pigmentary defects
Total congenital cataract
Fibronectin glomerulopathy
Cowden syndrome
Essential thrombocythemia
Familial capillary hemangioma
Myelofibrosis with myeloid metaplasia
Proteus syndrome
Synonym(s):
(no synonyms)
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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ITGA2B P08514607759
ITGB3 P05106173470
No signs/symptoms info available.