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 1. An important gene associated with Bleeding Disorder, Platelet-Type, 9 is BDPLT9 (Bleeding Disorder, Platelet-Type, 9), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. 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

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. 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 214) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*2045G>ASNV Conflicting interpretations of pathogenicity 903790 5:52392387-52392387 5:53096557-53096557
2 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*321A>GSNV Conflicting interpretations of pathogenicity 353872 rs73756618 5:52394111-52394111 5:53098281-53098281
3 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*171G>CSNV Conflicting interpretations of pathogenicity 353873 rs191465075 5:52394261-52394261 5:53098431-53098431
4 ITGA2 , MOCS2 NM_004531.5(MOCS2):c.*44A>CSNV Conflicting interpretations of pathogenicity 353875 rs367775935 5:52394388-52394388 5:53098558-53098558
5 ITGA2 NM_002203.4(ITGA2):c.-99G>CSNV Uncertain significance 353729 rs886060656 5:52285200-52285200 5:52989370-52989370
6 ITGA2 NM_002203.4(ITGA2):c.185+10T>CSNV Uncertain significance 353732 rs758980432 5:52322708-52322708 5:53026878-53026878
7 ITGA2 NM_002203.4(ITGA2):c.*4028A>CSNV Uncertain significance 353864 rs879585300 5:52390457-52390457 5:53094627-53094627
8 ITGA2 NM_002203.4(ITGA2):c.3110del (p.Phe1037fs)deletion Uncertain significance 353777 rs886060662 5:52377490-52377490 5:53081660-53081660
9 ITGA2 NM_002203.4(ITGA2):c.*483deldeletion Uncertain significance 353793 rs886060667 5:52386909-52386909 5:53091079-53091079
10 ITGA2 NM_002203.4(ITGA2):c.*613C>TSNV Uncertain significance 353795 rs537086711 5:52387042-52387042 5:53091212-53091212
11 ITGA2 NM_002203.4(ITGA2):c.*1356C>TSNV Uncertain significance 353805 rs771530392 5:52387785-52387785 5:53091955-53091955
12 ITGA2 NM_002203.4(ITGA2):c.*60G>TSNV Uncertain significance 353786 rs886060663 5:52386489-52386489 5:53090659-53090659
13 ITGA2 NM_002203.4(ITGA2):c.*2392G>ASNV Uncertain significance 353821 rs886060676 5:52388821-52388821 5:53092991-53092991
14 ITGA2 NM_002203.4(ITGA2):c.*3164deldeletion Uncertain significance 353845 rs886060687 5:52389592-52389592 5:53093762-53093762
15 ITGA2 NM_002203.4(ITGA2):c.*2429C>TSNV Uncertain significance 353822 rs886060677 5:52388858-52388858 5:53093028-53093028
16 ITGA2 NM_002203.4(ITGA2):c.*2450G>ASNV Uncertain significance 353823 rs886060678 5:52388879-52388879 5:53093049-53093049
17 ITGA2 NM_002203.4(ITGA2):c.*2529_*2532deldeletion Uncertain significance 353826 rs886060680 5:52388955-52388958 5:53093125-53093128
18 ITGA2 NM_002203.4(ITGA2):c.*2653T>GSNV Uncertain significance 353831 rs886060682 5:52389082-52389082 5:53093252-53093252
19 ITGA2 NM_002203.4(ITGA2):c.*2782C>GSNV Uncertain significance 353835 rs886060684 5:52389211-52389211 5:53093381-53093381
20 ITGA2 NM_002203.4(ITGA2):c.*2883_*2893dupduplication Uncertain significance 353836 rs6149022 5:52389311-52389312 5:53093481-53093482
21 ITGA2 NM_002203.4(ITGA2):c.*3358G>CSNV Uncertain significance 353850 rs552507591 5:52389787-52389787 5:53093957-53093957
22 ITGA2 NM_002203.4(ITGA2):c.*3409A>GSNV Uncertain significance 353852 rs542924934 5:52389838-52389838 5:53094008-53094008
23 ITGA2 NM_002203.4(ITGA2):c.*3414A>CSNV Uncertain significance 353853 rs546009701 5:52389843-52389843 5:53094013-53094013
24 ITGA2 NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTATinsertion Uncertain significance 353855 rs57674800 5:52390026-52390027 5:53094196-53094197
25 ITGA2 NM_002203.4(ITGA2):c.*3820T>CSNV Uncertain significance 353858 rs886060692 5:52390249-52390249 5:53094419-53094419
26 ITGA2 NM_002203.4(ITGA2):c.*2089G>CSNV Uncertain significance 353817 rs886060674 5:52388518-52388518 5:53092688-53092688
27 ITGA2 NM_002203.4(ITGA2):c.*1957G>CSNV Uncertain significance 907023 5:52388386-52388386 5:53092556-53092556
28 ITGA2 NM_002203.4(ITGA2):c.*1980T>CSNV Uncertain significance 907024 5:52388409-52388409 5:53092579-53092579
29 ITGA2 NM_002203.4(ITGA2):c.*2009C>ASNV Uncertain significance 907025 5:52388438-52388438 5:53092608-53092608
30 ITGA2 NM_002203.4(ITGA2):c.*2051A>GSNV Uncertain significance 907026 5:52388480-52388480 5:53092650-53092650
31 ITGA2 NM_002203.4(ITGA2):c.502+12A>GSNV Uncertain significance 905282 5:52344319-52344319 5:53048489-53048489
32 ITGA2 NM_002203.4(ITGA2):c.*2367G>ASNV Uncertain significance 904778 5:52388796-52388796 5:53092966-53092966
33 ITGA2 NM_002203.4(ITGA2):c.*2414G>ASNV Uncertain significance 904779 5:52388843-52388843 5:53093013-53093013
34 ITGA2 NM_002203.4(ITGA2):c.*2648A>GSNV Uncertain significance 905568 5:52389077-52389077 5:53093247-53093247
35 ITGA2 NM_002203.4(ITGA2):c.*2682T>ASNV Uncertain significance 906075 5:52389111-52389111 5:53093281-53093281
36 ITGA2 NM_002203.4(ITGA2):c.*2690G>CSNV Uncertain significance 906076 5:52389119-52389119 5:53093289-53093289
37 ITGA2 NM_002203.4(ITGA2):c.*3166G>ASNV Uncertain significance 903710 5:52389595-52389595 5:53093765-53093765
38 ITGA2 NM_002203.4(ITGA2):c.*3404T>CSNV Uncertain significance 905628 5:52389833-52389833 5:53094003-53094003
39 ITGA2 NM_002203.4(ITGA2):c.*3455A>GSNV Uncertain significance 905629 5:52389884-52389884 5:53094054-53094054
40 ITGA2 NM_002203.4(ITGA2):c.*3597A>TSNV Uncertain significance 905630 5:52390026-52390026 5:53094196-53094196
41 ITGA2 NM_002203.4(ITGA2):c.*3724T>CSNV Uncertain significance 905631 5:52390153-52390153 5:53094323-53094323
42 ITGA2 , MOCS2 NM_002203.4(ITGA2):c.*3813G>ASNV Uncertain significance 905632 5:52390242-52390242 5:53094412-53094412
43 ITGA2 NM_002203.4(ITGA2):c.*4083G>CSNV Uncertain significance 906142 5:52390512-52390512 5:53094682-53094682
44 ITGA2 NM_002203.4(ITGA2):c.-89T>ASNV Uncertain significance 904497 5:52285210-52285210 5:52989380-52989380
45 ITGA2 NM_002203.4(ITGA2):c.-35C>TSNV Uncertain significance 904498 5:52285264-52285264 5:52989434-52989434
46 ITGA2 NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys)SNV Uncertain significance 905281 5:52322684-52322684 5:53026854-53026854
47 ITGA2 NM_002203.4(ITGA2):c.573A>G (p.Val191=)SNV Uncertain significance 905283 5:52344543-52344543 5:53048713-53048713
48 ITGA2 NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp)SNV Uncertain significance 906879 5:52344572-52344572 5:53048742-53048742
49 ITGA2 NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr)SNV Uncertain significance 904560 5:52356859-52356859 5:53061029-53061029
50 ITGA2 NM_002203.4(ITGA2):c.2730C>T (p.Phe910=)SNV Uncertain significance 904635 5:52370956-52370956 5:53075126-53075126

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
12.98 PIGT PIGL PIGH PIGB PIGA
2
Show member pathways
11.35 PIGT PIGL PIGH PIGB PIGA
3
Show member pathways
10.71 PIGY PIGT PIGL PIGH PIGB 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 9.8 PIGY PIGT PIGL PIGH PIGB PIGA
2 endoplasmic reticulum GO:0005783 9.63 PIGY PIGT PIGL PIGH PIGB PIGA
3 endoplasmic reticulum membrane GO:0005789 9.43 PIGY PIGT PIGL PIGH PIGB 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 9.35 PIGY PIGL PIGH PIGB PIGA
2 GPI anchor biosynthetic process GO:0006506 9.1 PIGY PIGT PIGL PIGH PIGB PIGA

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.13 PIGH PIGB PIGA
2 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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