BDPLT9
MCID: BLD157
MIFTS: 25

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 57
Platelet-Type Bleeding Disorder 9 12 29 6 15
Glycoprotein Ia Deficiency 57 12 13 72
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:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111045
ICD10 33 D69.8
ICD10 via Orphanet 34 D69.8
UMLS via Orphanet 73 C3280114
Orphanet 59 ORPHA98886
MedGen 42 C3280114
UMLS 72 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). Related phenotypes are thrombocytopenia and bruising susceptibility

More information from OMIM: 614200 PS231200

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:

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

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

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

Publications for Bleeding Disorder, Platelet-Type, 9

Articles related to Bleeding Disorder, Platelet-Type, 9:

# Title Authors PMID Year
1
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia. 8
16525577 2006
2
Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading. 8
2943331 1986
3
Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia. 8
2933589 1985

Variations for Bleeding Disorder, Platelet-Type, 9

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

6 (show top 50) (show all 145)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*44A> C single nucleotide variant Conflicting interpretations of pathogenicity rs367775935 5:52394388-52394388 5:53098558-53098558
2 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*171G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191465075 5:52394261-52394261 5:53098431-53098431
3 ITGA2 ; MOCS2 NM_004531.5(MOCS2): c.*321A> G single nucleotide variant Conflicting interpretations of pathogenicity rs73756618 5:52394111-52394111 5:53098281-53098281
4 ITGA2 NM_002203.4(ITGA2): c.*60G> T single nucleotide variant Uncertain significance rs886060663 5:52386489-52386489 5:53090659-53090659
5 ITGA2 NM_002203.4(ITGA2): c.1189G> A (p.Gly397Ser) single nucleotide variant Uncertain significance rs767342253 5:52355719-52355719 5:53059889-53059889
6 ITGA2 NM_002203.4(ITGA2): c.185+10T> C single nucleotide variant Uncertain significance rs758980432 5:52322708-52322708 5:53026878-53026878
7 ITGA2 NM_002203.4(ITGA2): c.-99G> C single nucleotide variant Uncertain significance rs886060656 5:52285200-52285200 5:52989370-52989370
8 ITGA2 NM_002203.4(ITGA2): c.*4028A> C single nucleotide variant Uncertain significance rs879585300 5:52390457-52390457 5:53094627-53094627
9 ITGA2 NM_002203.4(ITGA2): c.*3164del deletion Uncertain significance rs886060687 5:52389593-52389593 5:53093763-53093763
10 ITGA2 NM_002203.4(ITGA2): c.*2089G> C single nucleotide variant Uncertain significance rs886060674 5:52388518-52388518 5:53092688-53092688
11 ITGA2 NM_002203.4(ITGA2): c.*1356C> T single nucleotide variant Uncertain significance rs771530392 5:52387785-52387785 5:53091955-53091955
12 ITGA2 NM_002203.4(ITGA2): c.*483del deletion Uncertain significance rs886060667 5:52386912-52386912 5:53091082-53091082
13 ITGA2 NM_002203.4(ITGA2): c.3110del (p.Phe1037fs) deletion Uncertain significance rs886060662 5:52377492-52377492 5:53081662-53081662
14 ITGA2 NM_002203.4(ITGA2): c.*3113G> C single nucleotide variant Uncertain significance rs886060686 5:52389542-52389542 5:53093712-53093712
15 ITGA2 NM_002203.4(ITGA2): c.*2268dup duplication Uncertain significance rs533206560 5:52388697-52388697 5:53092867-53092867
16 ITGA2 NM_002203.4(ITGA2): c.*1947T> C single nucleotide variant Uncertain significance rs561106268 5:52388376-52388376 5:53092546-53092546
17 ITGA2 NM_002203.4(ITGA2): c.*1671G> C single nucleotide variant Uncertain significance rs531102187 5:52388100-52388100 5:53092270-53092270
18 ITGA2 NM_002203.4(ITGA2): c.*60G> A single nucleotide variant Uncertain significance rs886060663 5:52386489-52386489 5:53090659-53090659
19 ITGA2 NM_002203.4(ITGA2): c.2434C> A (p.Gln812Lys) single nucleotide variant Uncertain significance rs761499417 5:52368952-52368952 5:53073122-53073122
20 ITGA2 NM_002203.4(ITGA2): c.*3409A> G single nucleotide variant Uncertain significance rs542924934 5:52389838-52389838 5:53094008-53094008
21 ITGA2 NM_002203.4(ITGA2): c.*3820T> C single nucleotide variant Uncertain significance rs886060692 5:52390249-52390249 5:53094419-53094419
22 ITGA2 NM_002203.4(ITGA2) insertion Uncertain significance rs57674800 5:52390028-52390029 5:53094198-53094199
23 ITGA2 NM_002203.4(ITGA2): c.*2883_*2893dup duplication Uncertain significance rs6149022 5:52389312-52389322 5:53093482-53093492
24 ITGA2 NM_002203.4(ITGA2): c.*2782C> G single nucleotide variant Uncertain significance rs886060684 5:52389211-52389211 5:53093381-53093381
25 ITGA2 NM_002203.4(ITGA2): c.*2653T> G single nucleotide variant Uncertain significance rs886060682 5:52389082-52389082 5:53093252-53093252
26 ITGA2 NM_002203.4(ITGA2): c.*2529_*2532del deletion Uncertain significance rs886060680 5:52388958-52388961 5:53093128-53093131
27 ITGA2 NM_002203.4(ITGA2): c.*2450G> A single nucleotide variant Uncertain significance rs886060678 5:52388879-52388879 5:53093049-53093049
28 ITGA2 NM_002203.4(ITGA2): c.*2429C> T single nucleotide variant Uncertain significance rs886060677 5:52388858-52388858 5:53093028-53093028
29 ITGA2 NM_002203.4(ITGA2): c.636G> T (p.Gly212=) single nucleotide variant Uncertain significance rs373539496 5:52347246-52347246 5:53051416-53051416
30 ITGA2 NM_002203.4(ITGA2): c.614G> T (p.Gly205Val) single nucleotide variant Uncertain significance rs886060657 5:52344584-52344584 5:53048754-53048754
31 ITGA2 NM_002203.3(ITGA2): c.1602+15dupA duplication Uncertain significance rs545988273 5:52358774-52358774 5:53062944-53062944
32 ITGA2 NM_002203.4(ITGA2): c.1789C> T (p.Arg597Cys) single nucleotide variant Uncertain significance rs146370217 5:52360928-52360928 5:53065098-53065098
33 ITGA2 NM_002203.4(ITGA2): c.2069A> G (p.Gln690Arg) single nucleotide variant Uncertain significance rs886060660 5:52363073-52363073 5:53067243-53067243
34 ITGA2 NM_002203.4(ITGA2): c.2503A> G (p.Ser835Gly) single nucleotide variant Uncertain significance rs773985586 5:52369021-52369021 5:53073191-53073191
35 ITGA2 NM_002203.4(ITGA2): c.2826-12A> T single nucleotide variant Uncertain significance rs886060661 5:52374590-52374590 5:53078760-53078760
36 ITGA2 NM_002203.4(ITGA2): c.*609T> G single nucleotide variant Uncertain significance rs886060668 5:52387038-52387038 5:53091208-53091208
37 ITGA2 NM_002203.4(ITGA2): c.*859T> C single nucleotide variant Uncertain significance rs886060670 5:52387288-52387288 5:53091458-53091458
38 ITGA2 NM_002203.4(ITGA2): c.*2392G> A single nucleotide variant Uncertain significance rs886060676 5:52388821-52388821 5:53092991-53092991
39 ITGA2 NM_002203.4(ITGA2) insertion Uncertain significance rs57674800 5:52390028-52390029 5:53094198-53094199
40 ITGA2 NM_002203.4(ITGA2): c.*2608A> G single nucleotide variant Uncertain significance rs886060681 5:52389037-52389037 5:53093207-53093207
41 ITGA2 NM_002203.4(ITGA2): c.*2039_*2041del deletion Uncertain significance rs35863692 5:52388468-52388470 5:53092638-53092640
42 ITGA2 NM_002203.4(ITGA2): c.*1199C> T single nucleotide variant Uncertain significance rs1042323 5:52387628-52387628 5:53091798-53091798
43 ITGA2 NM_002203.4(ITGA2): c.*1044_*1045dup duplication Uncertain significance rs886060671 5:52387473-52387474 5:53091643-53091644
44 ITGA2 NM_002203.4(ITGA2): c.*850_*854del deletion Uncertain significance rs752068879 5:52387279-52387283 5:53091449-53091453
45 ITGA2 NM_002203.4(ITGA2): c.*1322T> C single nucleotide variant Uncertain significance rs369001095 5:52387751-52387751 5:53091921-53091921
46 ITGA2 NM_002203.4(ITGA2): c.*430G> C single nucleotide variant Uncertain significance rs886060666 5:52386859-52386859 5:53091029-53091029
47 ITGA2 NM_002203.4(ITGA2): c.1958C> A (p.Ala653Asp) single nucleotide variant Uncertain significance rs748826809 5:52362962-52362962 5:53067132-53067132
48 ITGA2 NM_002203.4(ITGA2): c.1108G> A (p.Gly370Arg) single nucleotide variant Uncertain significance rs140178479 5:52353866-52353866 5:53058036-53058036
49 ITGA2 NM_002203.4(ITGA2) indel Uncertain significance rs886060690 5:52390023-52390026 5:53094193-53094196
50 ITGA2 NM_002203.4(ITGA2): c.*3237A> C single nucleotide variant Uncertain significance rs886060688 5:52389666-52389666 5:53093836-53093836

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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