BDPLT9
MCID: BLD157
MIFTS: 19

Bleeding Disorder, Platelet-Type, 9 (BDPLT9)

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 58
Platelet-Type Bleeding Disorder 9 12 30 6 15
Glycoprotein Ia Deficiency 58 12 13 74
Collagen Platelet Receptor Deficiency 58 12
Gp Ia Deficiency 58 12
Bdplt9 58 12
Bleeding Diathesis Due to Integrin Alpha2-Beta1 Deficiency 60
Bleeding Disorder, Platelet Type 9 41

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
bleeding disorder, platelet-type, 9:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111045
OMIM 58 614200
ICD10 34 D69.8
ICD10 via Orphanet 35 D69.8
UMLS via Orphanet 75 C3280114
Orphanet 60 ORPHA98886
MedGen 43 C3280114
UMLS 74 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). 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

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

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 bruising susceptibility 33 HP:0000978

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ITGA2

Anatomical Context for Bleeding Disorder, Platelet-Type, 9

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

42
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 rs570925083 GRCh38 Chromosome 5, 53056160: 53056160
10 ITGA2 NM_002203.3(ITGA2): c.1096+11dupT duplication Likely benign rs570925083 GRCh37 Chromosome 5, 52351990: 52351990
11 ITGA2 NM_002203.3(ITGA2): c.1312+12T> C single nucleotide variant Benign rs2303127 GRCh38 Chromosome 5, 53060024: 53060024
12 ITGA2 NM_002203.3(ITGA2): c.1312+12T> C single nucleotide variant Benign rs2303127 GRCh37 Chromosome 5, 52355854: 52355854
13 ITGA2 NM_002203.3(ITGA2): c.1602+3A> G single nucleotide variant Likely benign rs201610232 GRCh38 Chromosome 5, 53062932: 53062932
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.1807-6T> C single nucleotide variant Likely benign rs3212555 GRCh38 Chromosome 5, 53065835: 53065835
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.2377G> A (p.Gly793Arg) single nucleotide variant Likely benign rs118190231 GRCh37 Chromosome 5, 52368473: 52368473
18 ITGA2 NM_002203.3(ITGA2): c.2377G> A (p.Gly793Arg) single nucleotide variant Likely benign rs118190231 GRCh38 Chromosome 5, 53072643: 53072643
19 ITGA2 NM_002203.3(ITGA2): c.2434C> A (p.Gln812Lys) single nucleotide variant Uncertain significance rs761499417 GRCh37 Chromosome 5, 52368952: 52368952
20 ITGA2 NM_002203.3(ITGA2): c.2434C> A (p.Gln812Lys) single nucleotide variant Uncertain significance rs761499417 GRCh38 Chromosome 5, 53073122: 53073122
21 ITGA2 NM_002203.3(ITGA2): c.2484G> A (p.Thr828=) single nucleotide variant Benign rs3212327 GRCh37 Chromosome 5, 52369002: 52369002
22 ITGA2 NM_002203.3(ITGA2): c.2484G> A (p.Thr828=) single nucleotide variant Benign rs3212327 GRCh38 Chromosome 5, 53073172: 53073172
23 ITGA2 NM_002203.3(ITGA2): c.2674A> C (p.Thr892Pro) single nucleotide variant Likely benign rs116473481 GRCh37 Chromosome 5, 52370900: 52370900
24 ITGA2 NM_002203.3(ITGA2): c.2674A> C (p.Thr892Pro) single nucleotide variant Likely benign rs116473481 GRCh38 Chromosome 5, 53075070: 53075070
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 GRCh38 Chromosome 5, 53092270: 53092270
38 ITGA2 NM_002203.3(ITGA2): c.*1671G> C single nucleotide variant Uncertain significance rs531102187 GRCh37 Chromosome 5, 52388100: 52388100
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 rs533206560 GRCh37 Chromosome 5, 52388697: 52388697
44 ITGA2 NM_002203.3(ITGA2): c.*2268dupT duplication Uncertain significance rs533206560 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

GO Terms for Bleeding Disorder, Platelet-Type, 9

Sources for Bleeding Disorder, Platelet-Type, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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