MCID: BRN063
MIFTS: 10

Bernard-Soulier Syndrome Type a

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome Type a

MalaCards integrated aliases for Bernard-Soulier Syndrome Type a:

Name: Bernard-Soulier Syndrome Type a 24
Von Willebrand Factor Receptor Deficiency 24
Deficiency of Platelet Glycoprotein 1b 69
Gp1ba-Related Giant Platelet Syndrome 24
Platelet Glycoprotein Ib Deficiency 24
Bernard-Soulier Syndrome, Type a 29

Classifications:



Summaries for Bernard-Soulier Syndrome Type a

MalaCards based summary : Bernard-Soulier Syndrome Type a, also known as von willebrand factor receptor deficiency, is related to bernard-soulier syndrome, type c. An important gene associated with Bernard-Soulier Syndrome Type a is GP1BA (Glycoprotein Ib Platelet Alpha Subunit).

Related Diseases for Bernard-Soulier Syndrome Type a

Diseases in the Bernard-Soulier Syndrome, Type A2 family:

Bernard-Soulier Syndrome Type a

Diseases related to Bernard-Soulier Syndrome Type a via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome, type c 11.3

Symptoms & Phenotypes for Bernard-Soulier Syndrome Type a

Drugs & Therapeutics for Bernard-Soulier Syndrome Type a

Search Clinical Trials , NIH Clinical Center for Bernard-Soulier Syndrome Type a

Genetic Tests for Bernard-Soulier Syndrome Type a

Genetic tests related to Bernard-Soulier Syndrome Type a:

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type a 29
2 Bernard-Soulier Syndrome Type a 24 GP1BA

Anatomical Context for Bernard-Soulier Syndrome Type a

Publications for Bernard-Soulier Syndrome Type a

Variations for Bernard-Soulier Syndrome Type a

Expression for Bernard-Soulier Syndrome Type a

Search GEO for disease gene expression data for Bernard-Soulier Syndrome Type a.

Pathways for Bernard-Soulier Syndrome Type a

GO Terms for Bernard-Soulier Syndrome Type a

Sources for Bernard-Soulier Syndrome Type a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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