BDPLT9
MCID: BLD157
MIFTS: 35

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 56
Platelet-Type Bleeding Disorder 9 12 29 6 15
Glycoprotein Ia Deficiency 56 12 13 71
Collagen Platelet Receptor Deficiency 56 12
Gp Ia Deficiency 56 12
Bdplt9 56 12
Bleeding Diathesis Due to Integrin Alpha2-Beta1 Deficiency 58
Bleeding Disorder, Platelet Type 9 39

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
bleeding disorder, platelet-type, 9:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111045
OMIM 56 614200
OMIM Phenotypic Series 56 PS231200
ICD10 32 D69.8
ICD10 via Orphanet 33 D69.8
UMLS via Orphanet 72 C3280114
Orphanet 58 ORPHA98886
MedGen 41 C3280114
UMLS 71 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, also known as platelet-type bleeding disorder 9, is related to paroxysmal nocturnal hemoglobinuria 1 and multiple congenital anomalies-hypotonia-seizures syndrome 3. An important gene associated with Bleeding Disorder, Platelet-Type, 9 is ITGA2 (Integrin Subunit Alpha 2), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Affiliated tissues include bone, and related phenotypes are thrombocytopenia and bruising susceptibility

More information from OMIM: 614200 PS231200

Related Diseases for Bleeding Disorder, Platelet-Type, 9

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 9:



Diseases related to Bleeding Disorder, Platelet-Type, 9

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

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

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 bruising susceptibility 31 HP:0000978

Symptoms via clinical synopsis from OMIM:

56
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

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 Tat-dependent transcription GR00163-A-2 8.62 PIGH PIGY

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:

40
Bone

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. 56
16525577 2006
2
Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading. 56
2943331 1986
3
Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia. 56
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 146) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>GSNV Conflicting interpretations of pathogenicity 353872 rs73756618 5:52394111-52394111 5:53098281-53098281
2 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>CSNV Conflicting interpretations of pathogenicity 353873 rs191465075 5:52394261-52394261 5:53098431-53098431
3 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>CSNV Conflicting interpretations of pathogenicity 353875 rs367775935 5:52394388-52394388 5:53098558-53098558
4 ITGA2 NM_002203.4(ITGA2):c.-99G>CSNV Uncertain significance 353729 rs886060656 5:52285200-52285200 5:52989370-52989370
5 ITGA2 NM_002203.4(ITGA2):c.185+10T>CSNV Uncertain significance 353732 rs758980432 5:52322708-52322708 5:53026878-53026878
6 ITGA2 NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser)SNV Uncertain significance 353750 rs767342253 5:52355719-52355719 5:53059889-53059889
7 ITGA2 NM_002203.4(ITGA2):c.*2392G>ASNV Uncertain significance 353821 rs886060676 5:52388821-52388821 5:53092991-53092991
8 ITGA2 NM_002203.4(ITGA2):c.*2723G>CSNV Uncertain significance 353834 rs145580223 5:52389152-52389152 5:53093322-53093322
9 ITGA2 NM_002203.4(ITGA2):c.*3164deldeletion Uncertain significance 353845 rs886060687 5:52389592-52389592 5:53093762-53093762
10 ITGA2 NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys)SNV Uncertain significance 353757 rs146370217 5:52360928-52360928 5:53065098-53065098
11 ITGA2 NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg)SNV Uncertain significance 353760 rs886060660 5:52363073-52363073 5:53067243-53067243
12 ITGA2 NM_002203.4(ITGA2):c.2826-12A>TSNV Uncertain significance 353775 rs886060661 5:52374590-52374590 5:53078760-53078760
13 ITGA2 NM_002203.4(ITGA2):c.*609T>GSNV Uncertain significance 353794 rs886060668 5:52387038-52387038 5:53091208-53091208
14 ITGA2 NM_002203.4(ITGA2):c.*859T>CSNV Uncertain significance 353799 rs886060670 5:52387288-52387288 5:53091458-53091458
15 ITGA2 NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly)SNV Uncertain significance 353769 rs773985586 5:52369021-52369021 5:53073191-53073191
16 ITGA2 NM_002203.4(ITGA2):c.*4028A>CSNV Uncertain significance 353864 rs879585300 5:52390457-52390457 5:53094627-53094627
17 ITGA2 NM_002203.4(ITGA2):c.3110del (p.Phe1037fs)deletion Uncertain significance 353777 rs886060662 5:52377490-52377490 5:53081660-53081660
18 ITGA2 NM_002203.4(ITGA2):c.*60G>TSNV Uncertain significance 353786 rs886060663 5:52386489-52386489 5:53090659-53090659
19 ITGA2 NM_002203.4(ITGA2):c.*1356C>TSNV Uncertain significance 353805 rs771530392 5:52387785-52387785 5:53091955-53091955
20 ITGA2 NM_002203.4(ITGA2):c.*483deldeletion Uncertain significance 353793 rs886060667 5:52386909-52386909 5:53091079-53091079
21 ITGA2 NM_002203.4(ITGA2):c.*2089G>CSNV Uncertain significance 353817 rs886060674 5:52388518-52388518 5:53092688-53092688
22 ITGA2 NM_002203.4(ITGA2):c.*2429C>TSNV Uncertain significance 353822 rs886060677 5:52388858-52388858 5:53093028-53093028
23 ITGA2 NM_002203.4(ITGA2):c.*2450G>ASNV Uncertain significance 353823 rs886060678 5:52388879-52388879 5:53093049-53093049
24 ITGA2 NM_002203.4(ITGA2):c.*2529_*2532deldeletion Uncertain significance 353826 rs886060680 5:52388955-52388958 5:53093125-53093128
25 ITGA2 NM_002203.4(ITGA2):c.*2653T>GSNV Uncertain significance 353831 rs886060682 5:52389082-52389082 5:53093252-53093252
26 ITGA2 NM_002203.4(ITGA2):c.*2782C>GSNV Uncertain significance 353835 rs886060684 5:52389211-52389211 5:53093381-53093381
27 ITGA2 NM_002203.4(ITGA2):c.*2883_*2893dupduplication Uncertain significance 353836 rs6149022 5:52389311-52389312 5:53093481-53093482
28 ITGA2 NM_002203.4(ITGA2):c.*3409A>GSNV Uncertain significance 353852 rs542924934 5:52389838-52389838 5:53094008-53094008
29 ITGA2 NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTATinsertion Uncertain significance 353855 rs57674800 5:52390026-52390027 5:53094196-53094197
30 ITGA2 NM_002203.4(ITGA2):c.*3820T>CSNV Uncertain significance 353858 rs886060692 5:52390249-52390249 5:53094419-53094419
31 ITGA2 NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys)SNV Uncertain significance 353766 rs761499417 5:52368952-52368952 5:53073122-53073122
32 ITGA2 NM_002203.4(ITGA2):c.*60G>ASNV Uncertain significance 353785 rs886060663 5:52386489-52386489 5:53090659-53090659
33 ITGA2 NM_002203.4(ITGA2):c.*1671G>CSNV Uncertain significance 353807 rs531102187 5:52388100-52388100 5:53092270-53092270
34 ITGA2 NM_002203.4(ITGA2):c.*1947T>CSNV Uncertain significance 353813 rs561106268 5:52388376-52388376 5:53092546-53092546
35 ITGA2 NM_002203.4(ITGA2):c.*2268dupduplication Uncertain significance 353820 rs533206560 5:52388694-52388695 5:53092864-53092865
36 ITGA2 NM_002203.4(ITGA2):c.*2674G>CSNV Uncertain significance 353832 rs886060683 5:52389103-52389103 5:53093273-53093273
37 ITGA2 NM_002203.4(ITGA2):c.*2921G>ASNV Uncertain significance 353837 rs886060685 5:52389350-52389350 5:53093520-53093520
38 ITGA2 NM_002203.4(ITGA2):c.*3113G>CSNV Uncertain significance 353844 rs886060686 5:52389542-52389542 5:53093712-53093712
39 ITGA2 NM_002203.4(ITGA2):c.*3237A>CSNV Uncertain significance 353847 rs886060688 5:52389666-52389666 5:53093836-53093836
40 ITGA2 NM_002203.4(ITGA2):c.*3594_*3597delinsTTTATAAACAACTTTGTAGGACTindel Uncertain significance 353854 rs886060690 5:52390023-52390026 5:53094193-53094196
41 ITGA2 NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg)SNV Uncertain significance 353749 rs140178479 5:52353866-52353866 5:53058036-53058036
42 ITGA2 NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp)SNV Uncertain significance 353759 rs748826809 5:52362962-52362962 5:53067132-53067132
43 ITGA2 NM_002203.4(ITGA2):c.*850_*854deldeletion Uncertain significance 353798 rs752068879 5:52387275-52387279 5:53091445-53091449
44 ITGA2 NM_002203.4(ITGA2):c.*1044_*1045dupduplication Uncertain significance 353801 rs886060671 5:52387471-52387472 5:53091641-53091642
45 ITGA2 NM_002203.4(ITGA2):c.*1199C>TSNV Uncertain significance 353802 rs1042323 5:52387628-52387628 5:53091798-53091798
46 ITGA2 NM_002203.4(ITGA2):c.*430G>CSNV Uncertain significance 353790 rs886060666 5:52386859-52386859 5:53091029-53091029
47 ITGA2 NM_002203.4(ITGA2):c.*1322T>CSNV Uncertain significance 353804 rs369001095 5:52387751-52387751 5:53091921-53091921
48 ITGA2 NM_002203.4(ITGA2):c.*2039_*2041deldeletion Uncertain significance 353815 rs35863692 5:52388455-52388457 5:53092625-53092627
49 ITGA2 NM_002203.4(ITGA2):c.*2608A>GSNV Uncertain significance 353830 rs886060681 5:52389037-52389037 5:53093207-53093207
50 ITGA2 NM_002203.4(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTATinsertion Uncertain significance 353856 rs57674800 5:52390026-52390027 5:53094196-53094197

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 PIGT PIGL PIGH PIGA
2
Show member pathways
10.63 PIGY PIGT PIGL PIGH PIGA

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 integral component of membrane GO:0016021 9.73 PIGY PIGT PIGL PIGH PIGA ITGA2
2 endoplasmic reticulum GO:0005783 9.55 PIGY PIGT PIGL PIGH PIGA
3 endoplasmic reticulum membrane GO:0005789 9.35 PIGY PIGT PIGL PIGH PIGA
4 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 8.8 PIGY PIGH PIGA

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

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGY PIGL PIGH PIGA
2 GPI anchor biosynthetic process GO:0006506 9.02 PIGY PIGT PIGL PIGH PIGA

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.8 PIGY PIGH PIGA

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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