ODCs

Click node...

Bernard-Soulier syndrome

2 OMIM references -
3 associated genes
35 connected diseases
No signs/symptoms info

Disease	Type of connection
Fetal and neonatal alloimmune thrombocytopenia
22q11.2 deletion syndrome
Von Willebrand disease, platelet type
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
Congenital factor XII deficiency
Hereditary angioedema type 3
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Congenital factor XI deficiency
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Chronic granulomatous disease
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Myxoid / round cell liposarcoma
Congenital high-molecular-weight kininogen deficiency

Synonym(s): - Giant platelet syndrome - Hemorrhagiparous thrombocytic dystrophy

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: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		External references: 2 OMIM references - 1 MeSH reference: D001606

No signs/symptoms info available.