MCID: BLD157
MIFTS: 32

Bleeding Disorder, Platelet-Type, 9

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 9

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 9:

Name: Bleeding Disorder, Platelet-Type, 9 57
Platelet-Type Bleeding Disorder 9 12 29 6 15
Glycoprotein Ia Deficiency 57 12 13 73
Collagen Platelet Receptor Deficiency 57 12
Gp Ia Deficiency 57 12
Bdplt9 57 12
Bleeding Diathesis Due to Integrin Alpha2-Beta1 Deficiency 59
Bleeding Disorder, Platelet Type 9 40

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
mild disorder
three families have been reported (as of september 2011)


HPO:

32
bleeding disorder, platelet-type, 9:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614200
Disease Ontology 12 DOID:0111045
ICD10 33 D69.8
Orphanet 59 ORPHA98886
UMLS via Orphanet 74 C3280114
ICD10 via Orphanet 34 D69.8
MedGen 42 C3280114
UMLS 73 C3280114

Summaries for Bleeding Disorder, Platelet-Type, 9

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has material basis in mutation in the ITGA2 gene on chromosome 5q11.2.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 9, is also known as platelet-type bleeding disorder 9. An important gene associated with Bleeding Disorder, Platelet-Type, 9 is ITGA2 (Integrin Subunit Alpha 2), and among its related pathways/superpathways are Focal Adhesion and NFAT and Cardiac Hypertrophy. Affiliated tissues include bone, and related phenotypes are thrombocytopenia and bruising susceptibility

Description from OMIM: 614200

Related Diseases for Bleeding Disorder, Platelet-Type, 9

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 9

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
easy bruising

Hematology:
thrombocytopenia, mild
mild alpha-granule deficiency
platelets show decreased gpia/gpiia surface complex
platelets show defective adhesion to collagen and subendothelium


Clinical features from OMIM:

614200

Human phenotypes related to Bleeding Disorder, Platelet-Type, 9:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 bruising susceptibility 32 HP:0000978

GenomeRNAi Phenotypes related to Bleeding Disorder, Platelet-Type, 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 ITGA2 ITGB1

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 9

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 9

Genetic Tests for Bleeding Disorder, Platelet-Type, 9

Genetic tests related to Bleeding Disorder, Platelet-Type, 9:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 9 29 ITGA2

Anatomical Context for Bleeding Disorder, Platelet-Type, 9

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 9:

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 9

Variations for Bleeding Disorder, Platelet-Type, 9

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 9:

6 (show top 50) (show all 290)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGA2 NM_002203.3(ITGA2): c.-124G> A single nucleotide variant Benign rs3212385 GRCh37 Chromosome 5, 52285175: 52285175
2 ITGA2 NM_002203.3(ITGA2): c.-124G> A single nucleotide variant Benign rs3212385 GRCh38 Chromosome 5, 52989345: 52989345
3 ITGA2 NM_002203.3(ITGA2): c.-13G> A single nucleotide variant Likely benign rs143667535 GRCh37 Chromosome 5, 52285286: 52285286
4 ITGA2 NM_002203.3(ITGA2): c.-13G> A single nucleotide variant Likely benign rs143667535 GRCh38 Chromosome 5, 52989456: 52989456
5 ITGA2 NM_002203.3(ITGA2): c.11A> G (p.Glu4Gly) single nucleotide variant Likely benign rs559975113 GRCh37 Chromosome 5, 52285309: 52285309
6 ITGA2 NM_002203.3(ITGA2): c.11A> G (p.Glu4Gly) single nucleotide variant Likely benign rs559975113 GRCh38 Chromosome 5, 52989479: 52989479
7 ITGA2 NM_002203.3(ITGA2): c.993A> G (p.Ala331=) single nucleotide variant Benign rs3212523 GRCh38 Chromosome 5, 53056046: 53056046
8 ITGA2 NM_002203.3(ITGA2): c.993A> G (p.Ala331=) single nucleotide variant Benign rs3212523 GRCh37 Chromosome 5, 52351876: 52351876
9 ITGA2 NM_002203.3(ITGA2): c.1096+11dupT duplication Likely benign rs886060658 GRCh38 Chromosome 5, 53056160: 53056160
10 ITGA2 NM_002203.3(ITGA2): c.1096+11dupT duplication Likely benign rs886060658 GRCh37 Chromosome 5, 52351990: 52351990
11 ITGA2 NM_002203.3(ITGA2): c.1312+12T> C single nucleotide variant Benign rs2303127 GRCh37 Chromosome 5, 52355854: 52355854
12 ITGA2 NM_002203.3(ITGA2): c.1312+12T> C single nucleotide variant Benign rs2303127 GRCh38 Chromosome 5, 53060024: 53060024
13 ITGA2 NM_002203.3(ITGA2): c.2674A> C (p.Thr892Pro) single nucleotide variant Likely benign rs116473481 GRCh37 Chromosome 5, 52370900: 52370900
14 ITGA2 NM_002203.3(ITGA2): c.1602+3A> G single nucleotide variant Likely benign rs201610232 GRCh37 Chromosome 5, 52358762: 52358762
15 ITGA2 NM_002203.3(ITGA2): c.1602+3A> G single nucleotide variant Likely benign rs201610232 GRCh38 Chromosome 5, 53062932: 53062932
16 ITGA2 NM_002203.3(ITGA2): c.1807-6T> C single nucleotide variant Likely benign rs3212555 GRCh37 Chromosome 5, 52361665: 52361665
17 ITGA2 NM_002203.3(ITGA2): c.1807-6T> C single nucleotide variant Likely benign rs3212555 GRCh38 Chromosome 5, 53065835: 53065835
18 ITGA2 NM_002203.3(ITGA2): c.2377G> A (p.Gly793Arg) single nucleotide variant Likely benign rs118190231 GRCh37 Chromosome 5, 52368473: 52368473
19 ITGA2 NM_002203.3(ITGA2): c.2377G> A (p.Gly793Arg) single nucleotide variant Likely benign rs118190231 GRCh38 Chromosome 5, 53072643: 53072643
20 ITGA2 NM_002203.3(ITGA2): c.2674A> C (p.Thr892Pro) single nucleotide variant Likely benign rs116473481 GRCh38 Chromosome 5, 53075070: 53075070
21 ITGA2 NM_002203.3(ITGA2): c.2434C> A (p.Gln812Lys) single nucleotide variant Uncertain significance rs761499417 GRCh37 Chromosome 5, 52368952: 52368952
22 ITGA2 NM_002203.3(ITGA2): c.2434C> A (p.Gln812Lys) single nucleotide variant Uncertain significance rs761499417 GRCh38 Chromosome 5, 53073122: 53073122
23 ITGA2 NM_002203.3(ITGA2): c.2484G> A (p.Thr828=) single nucleotide variant Benign rs3212327 GRCh37 Chromosome 5, 52369002: 52369002
24 ITGA2 NM_002203.3(ITGA2): c.2484G> A (p.Thr828=) single nucleotide variant Benign rs3212327 GRCh38 Chromosome 5, 53073172: 53073172
25 ITGA2 NM_002203.3(ITGA2): c.2718G> A (p.Ala906=) single nucleotide variant Likely benign rs3212594 GRCh37 Chromosome 5, 52370944: 52370944
26 ITGA2 NM_002203.3(ITGA2): c.2718G> A (p.Ala906=) single nucleotide variant Likely benign rs3212594 GRCh38 Chromosome 5, 53075114: 53075114
27 ITGA2 NM_002203.3(ITGA2): c.3379A> C (p.Lys1127Gln) single nucleotide variant Likely benign rs3212645 GRCh37 Chromosome 5, 52385806: 52385806
28 ITGA2 NM_002203.3(ITGA2): c.3379A> C (p.Lys1127Gln) single nucleotide variant Likely benign rs3212645 GRCh38 Chromosome 5, 53089976: 53089976
29 ITGA2 NM_002203.3(ITGA2): c.3518T> C (p.Ile1173Thr) single nucleotide variant Likely benign rs200155411 GRCh37 Chromosome 5, 52386401: 52386401
30 ITGA2 NM_002203.3(ITGA2): c.3518T> C (p.Ile1173Thr) single nucleotide variant Likely benign rs200155411 GRCh38 Chromosome 5, 53090571: 53090571
31 ITGA2 NM_002203.3(ITGA2): c.*60G> A single nucleotide variant Uncertain significance rs886060663 GRCh38 Chromosome 5, 53090659: 53090659
32 ITGA2 NM_002203.3(ITGA2): c.*60G> A single nucleotide variant Uncertain significance rs886060663 GRCh37 Chromosome 5, 52386489: 52386489
33 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh37 Chromosome 5, 52387150: 52387150
34 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*721A> C single nucleotide variant Benign rs1109527 GRCh38 Chromosome 5, 53091320: 53091320
35 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh37 Chromosome 5, 52387323: 52387323
36 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*894C> T single nucleotide variant Benign rs1109526 GRCh38 Chromosome 5, 53091493: 53091493
37 ITGA2 NM_002203.3(ITGA2): c.*1671G> C single nucleotide variant Uncertain significance rs531102187 GRCh37 Chromosome 5, 52388100: 52388100
38 ITGA2 NM_002203.3(ITGA2): c.*1671G> C single nucleotide variant Uncertain significance rs531102187 GRCh38 Chromosome 5, 53092270: 53092270
39 ITGA2 NM_002203.3(ITGA2): c.*1921G> T single nucleotide variant Likely benign rs9292006 GRCh37 Chromosome 5, 52388350: 52388350
40 ITGA2 NM_002203.3(ITGA2): c.*1921G> T single nucleotide variant Likely benign rs9292006 GRCh38 Chromosome 5, 53092520: 53092520
41 ITGA2 NM_002203.3(ITGA2): c.*1947T> C single nucleotide variant Uncertain significance rs561106268 GRCh37 Chromosome 5, 52388376: 52388376
42 ITGA2 NM_002203.3(ITGA2): c.*1947T> C single nucleotide variant Uncertain significance rs561106268 GRCh38 Chromosome 5, 53092546: 53092546
43 ITGA2 NM_002203.3(ITGA2): c.*2268dupT duplication Uncertain significance rs886060675 GRCh37 Chromosome 5, 52388697: 52388697
44 ITGA2 NM_002203.3(ITGA2): c.*2268dupT duplication Uncertain significance rs886060675 GRCh38 Chromosome 5, 53092867: 53092867
45 ITGA2 NM_002203.3(ITGA2): c.*2521A> C single nucleotide variant Likely benign rs79488788 GRCh37 Chromosome 5, 52388950: 52388950
46 ITGA2 NM_002203.3(ITGA2): c.*2521A> C single nucleotide variant Likely benign rs79488788 GRCh38 Chromosome 5, 53093120: 53093120
47 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
48 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> A single nucleotide variant Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999
49 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh38 Chromosome 5, 53093169: 53093169
50 ITGA2; MOCS2 NM_002203.3(ITGA2): c.*2570C> T single nucleotide variant Benign/Likely benign rs1900182 GRCh37 Chromosome 5, 52388999: 52388999

Expression for Bleeding Disorder, Platelet-Type, 9

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 9.

Pathways for Bleeding Disorder, Platelet-Type, 9

Pathways related to Bleeding Disorder, Platelet-Type, 9 according to GeneCards Suite gene sharing:

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 ITGA2 ITGB1
2
Show member pathways
12.41 ITGA2 ITGB1
3 12.39 ITGA2 ITGB1
4
Show member pathways
12.37 ITGA2 ITGB1
5
Show member pathways
12.36 ITGA2 ITGB1
6
Show member pathways
12.31 ITGA2 ITGB1
7
Show member pathways
12.24 ITGA2 ITGB1
8 12.21 ITGA2 ITGB1
9
Show member pathways
12.2 ITGA2 ITGB1
10
Show member pathways
12.03 ITGA2 ITGB1
11
Show member pathways
11.97 ITGA2 ITGB1
12
Show member pathways
11.96 ITGA2 ITGB1
13 11.91 ITGA2 ITGB1
14
Show member pathways
11.83 ITGA2 ITGB1
15
Show member pathways
11.81 ITGA2 ITGB1
16
Show member pathways
11.78 ITGA2 ITGB1
17 11.77 ITGA2 ITGB1
18 11.75 ITGA2 ITGB1
19
Show member pathways
11.75 ITGA2 ITGB1
20
Show member pathways
11.7 ITGA2 ITGB1
21 11.66 ITGA2 ITGB1
22
Show member pathways
11.62 ITGA2 ITGB1
23 11.6 ITGA2 ITGB1
24 11.56 ITGA2 ITGB1
25 11.46 ITGA2 ITGB1
26 11.41 ITGA2 ITGB1
27 11.34 ITGA2 ITGB1
28 11.33 ITGA2 ITGB1
29
Show member pathways
11.26 ITGA2 ITGB1
30 11.25 ITGA2 ITGB1
31 11.16 ITGA2 ITGB1
32 11.15 ITGA2 ITGB1
33 11.01 ITGA2 ITGB1
34 11.01 ITGA2 ITGB1
35 10.92 ITGA2 ITGB1
36 10.81 ITGA2 ITGB1
37 10.67 ITGA2 ITGB1
38 10.58 ITGA2 ITGB1
39 10.32 ITGA2 ITGB1
40 9.74 ITGA2 ITGB1

GO Terms for Bleeding Disorder, Platelet-Type, 9

Cellular components related to Bleeding Disorder, Platelet-Type, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.26 ITGA2 ITGB1
2 external side of plasma membrane GO:0009897 9.16 ITGA2 ITGB1
3 integrin complex GO:0008305 8.96 ITGA2 ITGB1
4 integrin alpha2-beta1 complex GO:0034666 8.62 ITGA2 ITGB1

Biological processes related to Bleeding Disorder, Platelet-Type, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.43 ITGA2 ITGB1
2 extracellular matrix organization GO:0030198 9.4 ITGA2 ITGB1
3 cell-matrix adhesion GO:0007160 9.37 ITGA2 ITGB1
4 integrin-mediated signaling pathway GO:0007229 9.32 ITGA2 ITGB1
5 viral entry into host cell GO:0046718 9.26 ITGA2 ITGB1
6 cell adhesion mediated by integrin GO:0033627 9.16 ITGA2 ITGB1
7 cell-substrate adhesion GO:0031589 8.96 ITGA2 ITGB1
8 mesodermal cell differentiation GO:0048333 8.62 ITGA2 ITGB1

Molecular functions related to Bleeding Disorder, Platelet-Type, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.37 ITGA2 ITGB1
2 protein-containing complex binding GO:0044877 9.32 ITGA2 ITGB1
3 integrin binding GO:0005178 9.26 ITGA2 ITGB1
4 virus receptor activity GO:0001618 9.16 ITGA2 ITGB1
5 laminin binding GO:0043236 8.96 ITGA2 ITGB1
6 collagen binding involved in cell-matrix adhesion GO:0098639 8.62 ITGA2 ITGB1

Sources for Bleeding Disorder, Platelet-Type, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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