MCID: PLT004
MIFTS: 30

Platelet Glycoprotein Iv Deficiency

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Platelet Glycoprotein Iv Deficiency

MalaCards integrated aliases for Platelet Glycoprotein Iv Deficiency:

Name: Platelet Glycoprotein Iv Deficiency 57 12 75 29 13 6 73
Cd36 Deficiency 57 12 75 37
Bdplt10 57 12 75
Bleeding Disorder, Platelet-Type, 10; Bdplt10 57
Bleeding Disorder, Platelet-Type, 10 57
Deficiency, Platelet Glycoprotein Iv 40
Platelet-Type Bleeding Disorder 10 12
Bleeding Disorder Platelet-Type 10 75
Pg4d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two types of platelet gpiv deficiency - type i, absence gpiv on monocytes and type ii, presence gpiv on monocytes


HPO:

32
platelet glycoprotein iv deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608404
Disease Ontology 12 DOID:0111046
MedGen 42 C1842090
MeSH 44 D013921
KEGG 37 H01108
UMLS 73 C1842090

Summaries for Platelet Glycoprotein Iv Deficiency

UniProtKB/Swiss-Prot : 75 Platelet glycoprotein IV deficiency: A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal.

MalaCards based summary : Platelet Glycoprotein Iv Deficiency, also known as cd36 deficiency, is related to type i and diabetes mellitus, noninsulin-dependent. An important gene associated with Platelet Glycoprotein Iv Deficiency is CD36 (CD36 Molecule), and among its related pathways/superpathways are PPAR signaling pathway and Phagosome. Affiliated tissues include monocytes, neutrophil and brain, and related phenotypes are thrombocytopenia and abnormality of the endocrine system

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material basis in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.

Description from OMIM: 608404

Related Diseases for Platelet Glycoprotein Iv Deficiency

Diseases related to Platelet Glycoprotein Iv Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 type i 10.1
2 diabetes mellitus, noninsulin-dependent 9.9
3 thrombocytopenia 9.7
4 choroiditis 9.7
5 hypertrophic cardiomyopathy 9.7
6 hypoglycemia 9.7
7 fasting hypoglycemia 9.7

Graphical network of the top 20 diseases related to Platelet Glycoprotein Iv Deficiency:



Diseases related to Platelet Glycoprotein Iv Deficiency

Symptoms & Phenotypes for Platelet Glycoprotein Iv Deficiency

Symptoms via clinical synopsis from OMIM:

57
Hematology:
variable bleeding tendencies
thrombocytopenia
giant platelets
no neutrophil inclusions
low-to-normal platelet count (45 x 10(9)/l)
more

Clinical features from OMIM:

608404

Human phenotypes related to Platelet Glycoprotein Iv Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 abnormality of the endocrine system 32 HP:0000818
3 prolonged bleeding time 32 HP:0003010
4 giant platelets 32 HP:0001902

Drugs & Therapeutics for Platelet Glycoprotein Iv Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic and Cardiovascular Impact of CD36 Deficiency in African Americans Completed NCT02126735

Search NIH Clinical Center for Platelet Glycoprotein Iv Deficiency

Genetic Tests for Platelet Glycoprotein Iv Deficiency

Genetic tests related to Platelet Glycoprotein Iv Deficiency:

# Genetic test Affiliating Genes
1 Platelet Glycoprotein Iv Deficiency 29 CD36

Anatomical Context for Platelet Glycoprotein Iv Deficiency

MalaCards organs/tissues related to Platelet Glycoprotein Iv Deficiency:

41
Monocytes, Neutrophil, Brain, Liver

Publications for Platelet Glycoprotein Iv Deficiency

Articles related to Platelet Glycoprotein Iv Deficiency:

(show all 33)
# Title Authors Year
1
CD36 Deficiency Suppresses Epileptic Seizures. ( 29111364 )
2017
2
Incidence and molecular basis of CD36 deficiency in Shanghai population. ( 25330908 )
2015
3
Patients with CD36 deficiency are associated with enhanced atherosclerotic cardiovascular diseases. ( 22075538 )
2012
4
CD36 deficiency predisposing young children to fasting hypoglycemia. ( 20947105 )
2011
5
CD36 deficiency protects against malarial anaemia in children by reducing Plasmodium falciparum-infected red blood cell adherence to vascular endothelium. ( 19413744 )
2009
6
Chylomicron remnants are increased in the postprandial state in CD36 deficiency. ( 18753675 )
2009
7
Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene. ( 18462250 )
2008
8
CD36 deficiency leads to choroidal involution via COX2 down-regulation in rodents. ( 18288886 )
2008
9
Elevated plasma plasminogen activator inhibitor-1 in CD36 deficiency. ( 18820218 )
2008
10
CD36 deficiency rescues lipotoxic cardiomyopathy. ( 17363697 )
2007
11
Attenuated aerobic exercise capacity in CD36 deficiency. ( 17412877 )
2007
12
Type I CD36 deficiency associated with metabolic syndrome and vasospastic angina: a case report. ( 16886497 )
2006
13
CD36 deficiency in mice impairs lipoprotein lipase-mediated triglyceride clearance. ( 16024917 )
2005
14
CD36 expression and brain function: does CD36 deficiency impact learning ability? ( 16099393 )
2005
15
Type I CD36 deficiency in hematologic disorder. ( 15339698 )
2004
16
CD36 deficiency increases insulin sensitivity in muscle, but induces insulin resistance in the liver in mice. ( 12923231 )
2003
17
Lipoprotein abnormalities in human genetic CD36 deficiency associated with insulin resistance and abnormal fatty acid metabolism. ( 12716848 )
2003
18
CD36 deficiency induced by antiretroviral therapy. ( 11834946 )
2002
19
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. ( 11950861 )
2002
20
Genomic heterogeneity of type II CD36 deficiency. ( 12031598 )
2002
21
Metabolic changes in human CD36 deficiency displayed by glucose loading. ( 11686358 )
2001
22
CD36 deficiency associated with insulin resistance. ( 11247555 )
2001
23
Erythroid involvement in CD36 deficiency. ( 11602321 )
2001
24
CD36 mediates long-chain fatty acid transport in human myocardium: complete myocardial accumulation defect of radiolabeled long-chain fatty acid analog in subjects with CD36 deficiency. ( 10331667 )
1999
25
Enhanced myocardial glucose use in patients with a deficiency in long-chain fatty acid transport (CD36 deficiency). ( 10025829 )
1999
26
CD36 deficiency has little influence on the pathophysiology of hypertrophic cardiomyopathy. ( 10371699 )
1999
27
Absent myocardial iodine-123-BMIPP uptake and platelet/monocyte CD36 deficiency. ( 9776268 )
1998
28
Myocardial CD36 expression and fatty acid accumulation in patients with type I and II CD36 deficiency. ( 9839487 )
1998
29
[Different patterns of 123I-BMIPP myocardial accumulation in patients with type I and II CD36 deficiency]. ( 9494334 )
1997
30
A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency. ( 8696942 )
1996
31
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. ( 7533783 )
1995
32
Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes. ( 7506948 )
1994
33
Normal aggregations of glycoprotein IV (CD36)-deficient platelets from seven healthy Japanese donors. ( 1381610 )
1992

Variations for Platelet Glycoprotein Iv Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Platelet Glycoprotein Iv Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 CD36 p.Pro90Ser VAR_017913 rs75326924
2 CD36 p.Phe254Leu VAR_017917 rs142186404
3 CD36 p.Ile413Leu VAR_017919 rs121918035

ClinVar genetic disease variations for Platelet Glycoprotein Iv Deficiency:

6
(show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD36 NM_001001547.2(CD36): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs75326924 GRCh37 Chromosome 7, 80286003: 80286003
2 CD36 NM_001001547.2(CD36): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs75326924 GRCh38 Chromosome 7, 80656687: 80656687
3 CD36 CD36, G1439C, 1-BP DEL, 1444A deletion Pathogenic,risk factor
4 CD36 NM_001001547.2(CD36): c.120+399_120+400[12] short repeat Pathogenic,protective GRCh37 Chromosome 7, 80276575: 80276576
5 CD36 NM_001001547.2(CD36): c.120+399_120+400[12] short repeat Pathogenic,protective GRCh38 Chromosome 7, 80647259: 80647260
6 CD36 NM_001001547.2(CD36): c.949dup (p.Ile317Asnfs) duplication Pathogenic GRCh37 Chromosome 7, 80300423: 80300423
7 CD36 NM_001001547.2(CD36): c.949dup (p.Ile317Asnfs) duplication Pathogenic GRCh38 Chromosome 7, 80671107: 80671107
8 CD36 NM_001001547.2(CD36): c.760T> C (p.Phe254Leu) single nucleotide variant Pathogenic rs142186404 GRCh37 Chromosome 7, 80299280: 80299280
9 CD36 NM_001001547.2(CD36): c.760T> C (p.Phe254Leu) single nucleotide variant Pathogenic rs142186404 GRCh38 Chromosome 7, 80669964: 80669964
10 CD36 NM_001001547.2(CD36): c.1237A> C (p.Ile413Leu) single nucleotide variant Pathogenic rs121918035 GRCh37 Chromosome 7, 80302708: 80302708
11 CD36 NM_001001547.2(CD36): c.1237A> C (p.Ile413Leu) single nucleotide variant Pathogenic rs121918035 GRCh38 Chromosome 7, 80673392: 80673392
12 CD36 NM_001001547.2(CD36): c.332_333delCA (p.Thr111Serfs) deletion Pathogenic rs1085307059 GRCh37 Chromosome 7, 80290429: 80290430
13 CD36 NM_001001547.2(CD36): c.332_333delCA (p.Thr111Serfs) deletion Pathogenic rs1085307059 GRCh38 Chromosome 7, 80661113: 80661114
14 CD36 NM_001001547.2(CD36): c.1228_1239delATTGTGCCTATT (p.Ile410_Ile413del) deletion Likely pathogenic rs1085307060 GRCh37 Chromosome 7, 80302699: 80302710
15 CD36 NM_001001547.2(CD36): c.1228_1239delATTGTGCCTATT (p.Ile410_Ile413del) deletion Likely pathogenic rs1085307060 GRCh38 Chromosome 7, 80673383: 80673394
16 CD36 NM_001001547.2(CD36): c.1155delA (p.Lys385Asnfs) deletion Pathogenic rs886043043 GRCh37 Chromosome 7, 80302115: 80302115
17 CD36 NM_001001547.2(CD36): c.1155delA (p.Lys385Asnfs) deletion Pathogenic rs886043043 GRCh38 Chromosome 7, 80672799: 80672799
18 CD36 NM_001001547.2(CD36): c.-209C> T single nucleotide variant Uncertain significance rs539733007 GRCh38 Chromosome 7, 80602354: 80602354
19 CD36 NM_001001547.2(CD36): c.-211C> T single nucleotide variant Uncertain significance rs151218598 GRCh37 Chromosome 7, 80231668: 80231668
20 CD36 NM_001001547.2(CD36): c.-211C> T single nucleotide variant Uncertain significance rs151218598 GRCh38 Chromosome 7, 80602352: 80602352
21 CD36 NM_001001547.2(CD36): c.-209C> T single nucleotide variant Uncertain significance rs539733007 GRCh37 Chromosome 7, 80231670: 80231670
22 CD36 NM_001001547.2(CD36): c.282-14T> A single nucleotide variant Uncertain significance rs754938089 GRCh38 Chromosome 7, 80661049: 80661049
23 CD36 NM_001001547.2(CD36): c.282-14T> A single nucleotide variant Uncertain significance rs754938089 GRCh37 Chromosome 7, 80290365: 80290365
24 CD36 NM_001001547.2(CD36): c.682G> A (p.Asp228Asn) single nucleotide variant Uncertain significance rs774794181 GRCh37 Chromosome 7, 80293794: 80293794
25 CD36 NM_001001547.2(CD36): c.682G> A (p.Asp228Asn) single nucleotide variant Uncertain significance rs774794181 GRCh38 Chromosome 7, 80664478: 80664478
26 CD36 NM_001001547.2(CD36): c.*47A> G single nucleotide variant Uncertain significance rs759397538 GRCh37 Chromosome 7, 80303510: 80303510
27 CD36 NM_001001547.2(CD36): c.*47A> G single nucleotide variant Uncertain significance rs759397538 GRCh38 Chromosome 7, 80674194: 80674194
28 CD36 NM_001001547.2(CD36): c.-375G> C single nucleotide variant Likely benign rs1194182 GRCh37 Chromosome 7, 80231504: 80231504
29 CD36 NM_001001547.2(CD36): c.-375G> C single nucleotide variant Likely benign rs1194182 GRCh38 Chromosome 7, 80602188: 80602188
30 CD36 NM_001001547.2(CD36): c.-325G> A single nucleotide variant Uncertain significance rs886062448 GRCh37 Chromosome 7, 80231554: 80231554
31 CD36 NM_001001547.2(CD36): c.-325G> A single nucleotide variant Uncertain significance rs886062448 GRCh38 Chromosome 7, 80602238: 80602238
32 CD36 NM_001001547.2(CD36): c.-208C> T single nucleotide variant Uncertain significance rs886062451 GRCh37 Chromosome 7, 80231671: 80231671
33 CD36 NM_001001547.2(CD36): c.-208C> T single nucleotide variant Uncertain significance rs886062451 GRCh38 Chromosome 7, 80602355: 80602355
34 CD36 NM_001001547.2(CD36): c.121-6T> C single nucleotide variant Likely benign rs3173798 GRCh38 Chromosome 7, 80656534: 80656534
35 CD36 NM_001001547.2(CD36): c.121-6T> C single nucleotide variant Likely benign rs3173798 GRCh37 Chromosome 7, 80285850: 80285850
36 CD36 NM_001001547.2(CD36): c.159T> C (p.Asn53=) single nucleotide variant Uncertain significance rs886062452 GRCh38 Chromosome 7, 80656578: 80656578
37 CD36 NM_001001547.2(CD36): c.159T> C (p.Asn53=) single nucleotide variant Uncertain significance rs886062452 GRCh37 Chromosome 7, 80285894: 80285894
38 CD36 NM_001001547.2(CD36): c.390A> T (p.Thr130=) single nucleotide variant Uncertain significance rs148114593 GRCh38 Chromosome 7, 80661171: 80661171
39 CD36 NM_001001547.2(CD36): c.390A> T (p.Thr130=) single nucleotide variant Uncertain significance rs148114593 GRCh37 Chromosome 7, 80290487: 80290487
40 CD36 NM_001001547.2(CD36): c.1133G> T (p.Gly378Val) single nucleotide variant Uncertain significance rs146027667 GRCh37 Chromosome 7, 80302093: 80302093
41 CD36 NM_001001547.2(CD36): c.1133G> T (p.Gly378Val) single nucleotide variant Uncertain significance rs146027667 GRCh38 Chromosome 7, 80672777: 80672777
42 CD36 NM_001001547.2(CD36): c.1220_1222delGGA (p.Arg407del) deletion Uncertain significance rs886062455 GRCh37 Chromosome 7, 80302691: 80302693
43 CD36 NM_001001547.2(CD36): c.1220_1222delGGA (p.Arg407del) deletion Uncertain significance rs886062455 GRCh38 Chromosome 7, 80673375: 80673377
44 CD36 NM_001001547.2(CD36): c.*202G> T single nucleotide variant Uncertain significance rs143304806 GRCh37 Chromosome 7, 80303665: 80303665
45 CD36 NM_001001547.2(CD36): c.*202G> T single nucleotide variant Uncertain significance rs143304806 GRCh38 Chromosome 7, 80674349: 80674349
46 CD36 NM_001001547.2(CD36): c.*226A> G single nucleotide variant Uncertain significance rs8956 GRCh37 Chromosome 7, 80303689: 80303689
47 CD36 NM_001001547.2(CD36): c.*226A> G single nucleotide variant Uncertain significance rs8956 GRCh38 Chromosome 7, 80674373: 80674373
48 CD36 NM_001001547.2(CD36): c.-286C> A single nucleotide variant Uncertain significance rs886062450 GRCh37 Chromosome 7, 80231593: 80231593
49 CD36 NM_001001547.2(CD36): c.-286C> A single nucleotide variant Uncertain significance rs886062450 GRCh38 Chromosome 7, 80602277: 80602277
50 CD36 NM_001001547.2(CD36): c.374C> T (p.Ser125Leu) single nucleotide variant Uncertain significance rs886062453 GRCh38 Chromosome 7, 80661155: 80661155

Expression for Platelet Glycoprotein Iv Deficiency

Search GEO for disease gene expression data for Platelet Glycoprotein Iv Deficiency.

Pathways for Platelet Glycoprotein Iv Deficiency

Pathways related to Platelet Glycoprotein Iv Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320
2 Phagosome hsa04145
3 Adipocytokine signaling pathway hsa04920
4 Fat digestion and absorption hsa04975

GO Terms for Platelet Glycoprotein Iv Deficiency

Sources for Platelet Glycoprotein Iv Deficiency

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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