PG4D
MCID: PLT004
MIFTS: 53

Platelet Glycoprotein Iv Deficiency (PG4D)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Platelet Glycoprotein Iv Deficiency

MalaCards integrated aliases for Platelet Glycoprotein Iv Deficiency:

Name: Platelet Glycoprotein Iv Deficiency 56 12 73 29 13 6 71
Cd36 Deficiency 56 12 73 36
Bdplt10 56 12 73
Platelet-Type Bleeding Disorder 10 12 15
Bleeding Disorder, Platelet-Type, 10; Bdplt10 56
Bleeding Disorder, Platelet-Type, 10 56
Deficiency, Platelet Glycoprotein Iv 39
Bleeding Disorder Platelet-Type 10 73
Pg4d 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
platelet glycoprotein iv deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111046
OMIM 56 608404
OMIM Phenotypic Series 56 PS231200
KEGG 36 H01108
MeSH 43 D013921
MedGen 41 C1842090
UMLS 71 C1842090

Summaries for Platelet Glycoprotein Iv Deficiency

KEGG : 36 Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.

MalaCards based summary : Platelet Glycoprotein Iv Deficiency, also known as cd36 deficiency, is related to hypertriglyceridemia, familial and hyperinsulinism. 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, heart and neutrophil, and related phenotypes are thrombocytopenia and prolonged bleeding time

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.

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 608404 PS231200

Related Diseases for Platelet Glycoprotein Iv Deficiency

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 29.7 LPL INS APOE APOB
2 hyperinsulinism 29.2 PPARG PPARA LPL INS APOB
3 lipid metabolism disorder 28.9 SCARB1 PPARG PPARA LPL INS APOE
4 hyperglycemia 28.7 TLR2 PPARG LPL INS APOB
5 macular degeneration, age-related, 1 28.6 TLR4 TLR2 THBS1 INS APOE APOB
6 thrombocytopenia 28.4 TLR4 TLR2 THBS1 CD47 APOE
7 dilated cardiomyopathy 28.3 TLR4 SRA1 SLC27A6 SLC27A1 PPARG PPARA
8 heart disease 27.2 TLR4 PPARG PPARA NPC1L1 LPL INS
9 diabetes mellitus 27.0 TLR4 TLR2 PPARG PPARA PNPLA2 LPL
10 xanthoma disseminatum 10.4 APOE APOB
11 neonatal meningitis 10.3 PPARG CD47
12 hypercholesterolemia, familial, 2 10.3 APOE APOB
13 atrial standstill 1 10.3
14 alzheimer disease 11 10.3 PPARG PPARA APOE
15 hypertrophic cardiomyopathy 10.2
16 defective apolipoprotein b-100 10.2 APOE APOB
17 restrictive dermopathy, lethal 10.2 SLC27A6 SLC27A4 SLC27A1
18 huntington disease-like 1 10.2 SCARB1 APOE APOB
19 triglyceride deposit cardiomyovasculopathy 10.2 PPARG PNPLA2
20 ichthyosis prematurity syndrome 10.2 SLC27A4 SLC27A1
21 melkersson-rosenthal syndrome 10.2 SLC27A6 SLC27A1
22 idiopathic edema 10.1 PPARG PPARA INS
23 hyperlipoproteinemia, type iv 10.1 LPL APOE APOB
24 hyperlipoproteinemia, type i 10.1 LPL APOE APOB
25 familial lipoprotein lipase deficiency 10.1 LPL APOE APOB
26 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 PPARG PPARA INS
27 purpura 10.1
28 hyperlipoproteinemia, type iii 10.1 LPL APOE APOB
29 lecithin:cholesterol acyltransferase deficiency 10.1 LPL APOE APOB
30 maturity-onset diabetes of the young, type 1 10.1 PPARG PPARA INS
31 generalized atherosclerosis 10.1 INS APOE APOB
32 hyperalphalipoproteinemia 1 10.1 SCARB1 LPL APOB
33 adult syndrome 10.1 PPARG PPARA INS
34 lipodystrophy, familial partial, type 2 10.0 PPARG PPARA INS
35 xanthomatosis 10.0 LPL APOE APOB
36 silent myocardial infarction 10.0 INS APOB
37 retinal degeneration 10.0
38 hepatic lipase deficiency 10.0 LPL APOE
39 cholelithiasis 10.0 SCARB1 INS APOE
40 abetalipoproteinemia 10.0 LPL APOE APOB
41 hypolipoproteinemia 9.9 SCARB1 LPL APOE APOB
42 congenital cytomegalovirus 9.9 TLR2 PPARG
43 prediabetes syndrome 9.9 PPARG PPARA INS APOB
44 hyperuricemia 9.9 PPARG INS APOE APOB
45 sleep apnea 9.9 PPARG INS APOE APOB
46 thrombocytopenic purpura, autoimmune 9.9
47 takayasu arteritis 9.9
48 yemenite deaf-blind hypopigmentation syndrome 9.9
49 kawasaki disease 9.9
50 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9

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

Human phenotypes related to Platelet Glycoprotein Iv Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 prolonged bleeding time 31 HP:0003010
3 abnormality of the endocrine system 31 HP:0000818
4 giant platelets 31 HP:0001902

Symptoms via clinical synopsis from OMIM:

56
Hematology:
thrombocytopenia
giant platelets
variable bleeding tendencies
no neutrophil inclusions
low-to-normal platelet count (45 x 10(9)/l)
more

Clinical features from OMIM:

608404

MGI Mouse Phenotypes related to Platelet Glycoprotein Iv Deficiency:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 APOB APOE CD36 CD47 FYN INS
2 cellular MP:0005384 10.43 APOB APOE CD36 CD47 FYN INS
3 growth/size/body region MP:0005378 10.43 APOB APOE CD36 FYN INS LPL
4 cardiovascular system MP:0005385 10.41 APOB APOE CD36 CD47 INS LPL
5 adipose tissue MP:0005375 10.32 APOE CD36 INS LPL PNPLA2 PPARA
6 immune system MP:0005387 10.32 APOB APOE CD36 CD47 FYN INS
7 mortality/aging MP:0010768 10.31 APOB APOE CD36 CD47 FYN INS
8 liver/biliary system MP:0005370 10.28 APOB APOE CD36 INS LPL NPC1L1
9 integument MP:0010771 10.27 APOE CD47 FYN INS LPL PNPLA2
10 hematopoietic system MP:0005397 10.25 APOE CD36 CD47 FYN INS PPARG
11 muscle MP:0005369 10.21 APOB APOE CD36 CD47 INS LPL
12 endocrine/exocrine gland MP:0005379 10.19 APOE CD36 FYN INS PNPLA2 PPARG
13 digestive/alimentary MP:0005381 10.15 APOE CD36 INS NPC1L1 SLC27A4 THBS1
14 nervous system MP:0003631 10.06 APOB APOE CD36 CD47 FYN INS
15 renal/urinary system MP:0005367 10 APOE CD36 FYN INS PPARA PPARG
16 respiratory system MP:0005388 9.76 APOE CD47 LPL PNPLA2 SLC27A4 THBS1
17 skeleton MP:0005390 9.7 APOE CD36 CD47 INS PPARG SCARB2
18 vision/eye MP:0005391 9.32 APOB APOE CD36 CD47 FYN INS

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:

40
Monocytes, Heart, Neutrophil, Brain, Smooth Muscle, Lymph Node, Small Intestine

Publications for Platelet Glycoprotein Iv Deficiency

Articles related to Platelet Glycoprotein Iv Deficiency:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. 56 6 61
10946357 2000
2
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. 61 6 56
7533783 1995
3
Malaria susceptibility and CD36 mutation. 6 56
10890433 2000
4
A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency. 6 56
7686693 1993
5
Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. 6 61
18305138 2008
6
Attenuated aerobic exercise capacity in CD36 deficiency. 61 56
17412877 2007
7
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. 61 6
11950861 2002
8
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man. 61 56
11499670 2001
9
CD36 deficiency associated with insulin resistance. 61 56
11247555 2001
10
CD36 deficiency is frequent and can cause platelet immunization in Africans. 61 56
10504124 1999
11
Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? 56 61
9040027 1997
12
A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency. 6 61
8696942 1996
13
Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes. 56 61
7506948 1994
14
CD36 polymorphism is associated with protection from cerebral malaria. 6
12506336 2003
15
Incidence of the Nak(a)-negative platelet phenotype in African Americans is similar to that of Asians. 56
8623134 1996
16
Frequency of human platelet antigens among blood donors in northeastern Thailand. 56
7570919 1995
17
A platelet membrane glycoprotein (GP) deficiency in healthy blood donors: Naka- platelets lack detectable GPIV (CD36). 56
1699620 1990
18
Familial macrothrombocytopenia associated with decreased glycosylation of platelet membrane glycoprotein IV. 56
2316511 1990
19
Identification of the platelet-specific alloantigen, Naka, on platelet membrane glycoprotein IV. 56
2297570 1990
20
A new platelet-specific antigen, Naka, involved in the refractoriness of HLA-matched platelet transfusion. 56
2617957 1989
21
Distribution of CD36 deficiency in different Chinese ethnic groups. 61
32487483 2020
22
The microvesicle/CD36 complex triggers a prothrombotic phenotype in patients with non-valvular atrial fibrillation. 61
32510852 2020
23
CD36-fibrin interaction propagates FXI-dependent thrombin generation of human platelets. 61
32463151 2020
24
CD36 deficiency reduces chronic BBB dysfunction and scar formation and improves activity, hedonic and memory deficits in ischemic stroke. 61
32404022 2020
25
Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma. 61
32129498 2020
26
Loss of CD36 impairs hepatic insulin signaling by enhancing the interaction of PTP1B with IR. 61
32100381 2020
27
Loss of CD36 protects against diet-induced obesity but results in impaired muscle stem cell function, delayed muscle regeneration and hepatic steatosis. 61
31599493 2020
28
2-Year follow-up of a patient with CD36 deficiency and takotsubo cardiomyopathy. 61
30187241 2020
29
A case of platelet transfusion refractoriness due to anti-CD36 with a successful treatment outcome. 61
31935329 2019
30
A single-center investigational study of CD36 antigen deficiency and platelet alloantibody distribution in different populations in Northern China as well as platelet alloantibodies effect on pregnancy. 61
31421121 2019
31
Type 1 cluster of differentiation 36 deficiency-related cardiomyopathy accelerates heart failure with co-existing mitral valve prolapse: a case report. 61
31660489 2019
32
Oxidized LDL upregulates macrophage DPP4 expression via TLR4/TRIF/CD36 pathways. 61
30738832 2019
33
A string of 12 mutations in Intron 3 is a new clue associated with Type II CD36 deficiency. 61
30840330 2019
34
CD36 Enhances Vascular Smooth Muscle Cell Proliferation and Development of Neointimal Hyperplasia. 61
30567481 2019
35
[Construction of eukaryotic expression vector for human platelet CD36 gene 220C>T and 429+4insg variants and analysis of their expressions in HEK293T cells]. 61
30703228 2019
36
CD36 Deficiency Inhibits Retinal Inflammation and Retinal Degeneration in Cx3cr1 Knockout Mice. 61
31969887 2019
37
CD36 and lipid metabolism in the evolution of atherosclerosis. 61
29534172 2018
38
Treatment with medium chain fatty acids milk of CD36-deficient preschool children. 61
29524782 2018
39
CD36 deficiency attenuates immune-mediated hepatitis in mice by modulating the proapoptotic effects of CXC chemokine ligand 10. 61
29220536 2018
40
[Anti-CD36 Mediated Platelet Transfusion Refractoriness and Related Cases After Stem Cell Transplantation]. 61
29665929 2018
41
Successful management of a hydropic fetus with severe anemia and thrombocytopenia caused by anti-CD36 antibody. 61
28815406 2018
42
Fetal/neonatal alloimmune thrombocytopenia due to anti-CD36 antibodies: antibody evaluations by CD36-transfected cell lines. 61
29030871 2018
43
CD36 Deficiency Suppresses Epileptic Seizures. 61
29111364 2017
44
Cluster of Differentiation 36 Deficiency Aggravates Macrophage Infiltration and Hepatic Inflammation by Upregulating Monocyte Chemotactic Protein-1 Expression of Hepatocytes Through Histone Deacetylase 2-Dependent Pathway. 61
27967209 2017
45
Inflammatory stress promotes the development of obesity-related chronic kidney disease via CD36 in mice. 61
28536108 2017
46
Activation of PPARγ does not contribute to macrophage ABCA1 expression and ABCA1-mediated cholesterol efflux to apoAI. 61
27890613 2017
47
CD36 deficiency impairs the small intestinal barrier and induces subclinical inflammation in mice. 61
28066800 2017
48
[A novel CD36 mutation T538C (Trp180Arg) results in CD36 deficiency and establishment of a genotyping method for the novel mutation based on sequence-specific primer PCR]. 61
27577207 2016
49
Alterations in the cardiac proteome of the spontaneously hypertensive rat induced by transgenic expression of CD36. 61
27132684 2016
50
LPA/PKD-1-FoxO1 Signaling Axis Mediates Endothelial Cell CD36 Transcriptional Repression and Proangiogenic and Proarteriogenic Reprogramming. 61
27013613 2016

Variations for Platelet Glycoprotein Iv Deficiency

ClinVar genetic disease variations for Platelet Glycoprotein Iv Deficiency:

6 (show top 50) (show all 102) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD36 NM_001001547.2(CD36):c.120+399TG[12]short repeat Pathogenic,protective 13538 7:80276575-80276598 7:80647259-80647282
2 CD36 CD36, G1439C, 1-BP DEL, 1444Adeletion Pathogenic,risk factor 13537
3 CD36 NM_001001547.3(CD36):c.760T>C (p.Phe254Leu)SNV Pathogenic 13540 rs142186404 7:80299280-80299280 7:80669964-80669964
4 CD36 NM_001001547.3(CD36):c.1237A>C (p.Ile413Leu)SNV Pathogenic 13541 rs121918035 7:80302708-80302708 7:80673392-80673392
5 CD36 NM_001001547.3(CD36):c.330_331CA[1] (p.Thr111fs)short repeat Pathogenic 225309 rs572295823 7:80290426-80290427 7:80661110-80661111
6 CD36 NM_001001547.3(CD36):c.268C>T (p.Pro90Ser)SNV Pathogenic 13535 rs75326924 7:80286003-80286003 7:80656687-80656687
7 CD36 NM_001001547.3(CD36):c.1228_1239del (p.Ile410_Ile413del)deletion Pathogenic/Likely pathogenic 225310 rs550565800 7:80302698-80302709 7:80673382-80673393
8 CD36 NM_001001547.3(CD36):c.949dup (p.Ile317fs)duplication Likely pathogenic 13539 rs70961716 7:80300417-80300418 7:80671101-80671102
9 CD36 NM_001001547.3(CD36):c.429+2T>CSNV Likely pathogenic 417962 rs3211893 7:80290528-80290528 7:80661212-80661212
10 CD36 NM_001001547.3(CD36):c.1150del (p.Ala384fs)deletion Likely pathogenic 692065 7:80302110-80302110 7:80672794-80672794
11 CD36 NM_001001547.3(CD36):c.1410_1414AATAA[1] (p.Lys472fs)short repeat Likely pathogenic 692066 7:80303454-80303458 7:80674138-80674142
12 CD36 NM_001001547.3(CD36):c.1156C>T (p.Arg386Trp)SNV Likely pathogenic 632510 rs148910227 7:80302116-80302116 7:80672800-80672800
13 CD36 NM_001001547.3(CD36):c.787_808del (p.Val263fs)deletion Likely pathogenic 873470 7:80299306-80299327 7:80669990-80670011
14 CD36 NM_001001547.3(CD36):c.975T>G (p.Tyr325Ter)SNV Conflicting interpretations of pathogenicity 13536 rs3211938 7:80300449-80300449 7:80671133-80671133
15 CD36 NM_001001547.3(CD36):c.610-5T>CSNV Conflicting interpretations of pathogenicity 709087 7:80293717-80293717 7:80664401-80664401
16 CD36 NM_001001547.3(CD36):c.1404G>A (p.Ser468=)SNV Conflicting interpretations of pathogenicity 731329 7:80303448-80303448 7:80674132-80674132
17 CD36 NM_001001547.3(CD36):c.390A>T (p.Thr130=)SNV Conflicting interpretations of pathogenicity 360756 rs148114593 7:80290487-80290487 7:80661171-80661171
18 CD36 NM_001001547.3(CD36):c.1133G>T (p.Gly378Val)SNV Uncertain significance 360767 rs146027667 7:80302093-80302093 7:80672777-80672777
19 CD36 NM_001001547.3(CD36):c.1220_1222del (p.Arg407del)deletion Uncertain significance 360769 rs773274847 7:80302689-80302691 7:80673373-80673375
20 CD36 NM_001001547.3(CD36):c.*202G>TSNV Uncertain significance 360772 rs143304806 7:80303665-80303665 7:80674349-80674349
21 CD36 NM_001001547.3(CD36):c.*226A>GSNV Uncertain significance 360773 rs8956 7:80303689-80303689 7:80674373-80674373
22 CD36 NM_001001547.3(CD36):c.-286C>ASNV Uncertain significance 360743 rs886062450 7:80231593-80231593 7:80602277-80602277
23 CD36 NM_001001547.3(CD36):c.374C>T (p.Ser125Leu)SNV Uncertain significance 360755 rs886062453 7:80290471-80290471 7:80661155-80661155
24 CD36 NM_001001547.3(CD36):c.405C>G (p.Phe135Leu)SNV Uncertain significance 360757 rs747515126 7:80290502-80290502 7:80661186-80661186
25 CD36 NM_001001547.3(CD36):c.429+15A>GSNV Uncertain significance 360758 rs371196837 7:80290541-80290541 7:80661225-80661225
26 CD36 NM_001001547.3(CD36):c.456A>G (p.Gln152=)SNV Uncertain significance 360759 rs543785881 7:80292332-80292332 7:80663016-80663016
27 CD36 NM_001001547.3(CD36):c.640G>A (p.Val214Ile)SNV Uncertain significance 360760 rs190735330 7:80293752-80293752 7:80664436-80664436
28 CD36 NM_001001547.3(CD36):c.1000A>G (p.Lys334Glu)SNV Uncertain significance 360764 rs199628571 7:80300474-80300474 7:80671158-80671158
29 CD36 NM_001001547.3(CD36):c.1126-15T>CSNV Uncertain significance 360766 rs758766716 7:80302071-80302071 7:80672755-80672755
30 CD36 NM_001001547.3(CD36):c.1181_1185dup (p.Glu397fs)duplication Uncertain significance 360768 rs757570230 7:80302138-80302139 7:80672822-80672823
31 CD36 NM_001001547.3(CD36):c.1279G>T (p.Ala427Ser)SNV Uncertain significance 360770 rs201527696 7:80303323-80303323 7:80674007-80674007
32 CD36 NM_001001547.3(CD36):c.-297G>ASNV Uncertain significance 360742 rs886062449 7:80231582-80231582 7:80602266-80602266
33 CD36 NM_001001547.3(CD36):c.-150T>ASNV Uncertain significance 360747 rs532897983 7:80275437-80275437 7:80646121-80646121
34 CD36 NM_001001547.3(CD36):c.550G>A (p.Asp184Asn)SNV Uncertain significance 810108 7:80292426-80292426 7:80663110-80663110
35 CD36 NM_001001547.3(CD36):c.879T>C (p.Phe293=)SNV Uncertain significance 908993 7:80300353-80300353 7:80671037-80671037
36 CD36 NM_001001547.3(CD36):c.1297_1301del (p.Gln433fs)deletion Uncertain significance 632012 rs755620205 7:80303337-80303341 7:80674021-80674025
37 CD36 NM_001001547.3(CD36):c.430-2A>GSNV Uncertain significance 632009 rs3211901 7:80292304-80292304 7:80662988-80662988
38 CD36 NM_001001547.3(CD36):c.609+1G>ASNV Uncertain significance 632010 rs755124649 7:80292486-80292486 7:80663170-80663170
39 CD36 NM_001001547.3(CD36):c.701+1deldeletion Uncertain significance 632011 rs775534351 7:80293813-80293813 7:80664497-80664497
40 CD36 NM_001001547.3(CD36):c.1126-5_1127deldeletion Uncertain significance 632509 rs770511058 7:80302080-80302086 7:80672764-80672770
41 CD36 NM_001001547.3(CD36):c.1254+1G>ASNV Uncertain significance 417926 rs148051111 7:80302726-80302726 7:80673410-80673410
42 CD36 NM_001001547.3(CD36):c.220C>T (p.Gln74Ter)SNV Uncertain significance 632007 rs545489204 7:80285955-80285955 7:80656639-80656639
43 CD36 NM_001001547.3(CD36):c.380C>G (p.Ser127Ter)SNV Uncertain significance 632008 rs201765331 7:80290477-80290477 7:80661161-80661161
44 CD36 NM_001001547.3(CD36):c.1079T>G (p.Leu360Ter)SNV Uncertain significance 632507 rs56381858 7:80301310-80301310 7:80671994-80671994
45 CD36 NM_001001547.3(CD36):c.1112_1119dup (p.Glu374fs)duplication Uncertain significance 632508 rs1242969201 7:80301341-80301342 7:80672025-80672026
46 CD36 NM_001001547.3(CD36):c.-193C>GSNV Uncertain significance 910645 7:80231686-80231686 7:80602370-80602370
47 CD36 NM_001001547.3(CD36):c.-186T>GSNV Uncertain significance 911868 7:80231693-80231693 7:80602377-80602377
48 CD36 NM_001001547.3(CD36):c.*10T>CSNV Uncertain significance 910757 7:80303473-80303473 7:80674157-80674157
49 CD36 NM_001001547.3(CD36):c.*163C>TSNV Uncertain significance 911977 7:80303626-80303626 7:80674310-80674310
50 CD36 NM_001001547.3(CD36):c.-287G>ASNV Uncertain significance 910643 7:80231592-80231592 7:80602276-80602276

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

73
# 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

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:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320
2 Phagosome hsa04145
3 Adipocytokine signaling pathway hsa04920
4 Fat digestion and absorption hsa04975

Pathways related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 SLC27A1 SCARB1 PPARG PPARA PNPLA2 NPC1L1
2
Show member pathways
12.47 SCARB1 NPC1L1 LPL FYN APOE APOB
3 12.41 PPARG PNPLA2 NPC1L1 INS APOE
4
Show member pathways
12.34 PPARG PNPLA2 INS CD36
5
Show member pathways
12.18 SCARB1 INS APOE APOB
6 12.01 TLR4 TLR2 THBS1 SCARB1 CD36
7 11.93 PPARG PPARA LPL INS
8
Show member pathways
11.81 SCARB1 CD36 APOE APOB
9
Show member pathways
11.79 SCARB1 LPL CD36 APOE APOB
10 11.73 PPARG LPL INS
11
Show member pathways
11.67 SLC27A6 SLC27A4 SLC27A1 PPARA INS CD36
12 11.64 SCARB1 PPARG LPL INS
14 11.6 TLR4 SCARB2 FYN
15 11.4 TLR4 TLR2 THBS1 CD36
16 11.31 SCARB1 NPC1L1 LPL CD36
17
Show member pathways
11.1 SLC27A4 SLC27A1 SCARB1 NPC1L1 CD36 APOB
18 11.06 TLR4 CD47 CD36 APOE
19 11.05 SLC27A6 SLC27A4 SLC27A1 PPARG PPARA LPL

GO Terms for Platelet Glycoprotein Iv Deficiency

Cellular components related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.72 THBS1 PNPLA2 INS APOE APOB
2 cell surface GO:0009986 9.7 TLR4 TLR2 THBS1 SCARB1 LPL CD47
3 endocytic vesicle membrane GO:0030666 9.61 SCARB2 SCARB1 CD36
4 brush border membrane GO:0031526 9.58 SLC27A4 NPC1L1 CD36
5 plasma membrane GO:0005886 9.53 TLR4 TLR2 SRA1 SLC27A6 SLC27A4 SLC27A1
6 very-low-density lipoprotein particle GO:0034361 9.43 LPL APOE APOB
7 intermediate-density lipoprotein particle GO:0034363 9.37 APOE APOB
8 chylomicron GO:0042627 9.13 LPL APOE APOB

Biological processes related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.14 TLR4 TLR2 INS CD36 APOB
2 response to drug GO:0042493 10.07 THBS1 PPARG NPC1L1 LPL FYN
3 cellular protein metabolic process GO:0044267 10.04 PNPLA2 INS APOE APOB
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 10 TLR4 TLR2 INS CD36
5 response to bacterium GO:0009617 9.97 TLR4 LPL CD47 CD36
6 receptor-mediated endocytosis GO:0006898 9.95 SCARB2 SCARB1 CD36 APOE APOB
7 wound healing GO:0042060 9.94 SCARB1 PPARA INS
8 response to insulin GO:0032868 9.92 TLR2 SLC27A1 PPARA
9 cholesterol homeostasis GO:0042632 9.92 SCARB1 LPL APOE APOB
10 regulation of lipid metabolic process GO:0019216 9.91 SLC27A1 PPARG PPARA CD36
11 retinoid metabolic process GO:0001523 9.9 LPL APOE APOB
12 positive regulation of interleukin-6 production GO:0032755 9.9 TLR4 TLR2 CD36
13 positive regulation of tumor necrosis factor production GO:0032760 9.88 TLR4 TLR2 CD36
14 positive regulation of inflammatory response GO:0050729 9.88 TLR4 TLR2 LPL CD47
15 cellular response to amyloid-beta GO:1904646 9.87 TLR4 FYN CD36
16 lipid homeostasis GO:0055088 9.87 PPARG PNPLA2 APOE
17 negative regulation of blood vessel endothelial cell migration GO:0043537 9.87 THBS1 PPARG APOE
18 fatty acid metabolic process GO:0006631 9.87 SLC27A6 SLC27A4 SLC27A1 PPARG PPARA LPL
19 positive regulation of interleukin-6 secretion GO:2000778 9.86 TLR4 TLR2 LPL
20 response to cold GO:0009409 9.85 SLC27A1 PPARG LPL
21 lipopolysaccharide-mediated signaling pathway GO:0031663 9.84 TLR4 TLR2 SCARB1
22 triglyceride homeostasis GO:0070328 9.83 SCARB1 LPL APOE
23 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.83 TLR4 TLR2 CD36
24 response to lipid GO:0033993 9.82 PPARG PPARA CD36
25 toll-like receptor signaling pathway GO:0002224 9.81 TLR4 TLR2 CD36 APOB
26 positive regulation of interleukin-12 production GO:0032735 9.8 TLR4 TLR2 CD36
27 triglyceride catabolic process GO:0019433 9.8 PNPLA2 LPL APOB
28 low-density lipoprotein particle clearance GO:0034383 9.79 SCARB1 CD36 APOB
29 positive regulation of nitric-oxide synthase activity GO:0051000 9.77 SCARB1 INS APOE
30 cholesterol efflux GO:0033344 9.77 SCARB1 APOE APOB
31 intestinal absorption GO:0050892 9.76 SCARB1 CD36
32 low-density lipoprotein particle remodeling GO:0034374 9.76 APOE APOB
33 positive regulation of blood coagulation GO:0030194 9.76 THBS1 CD36
34 positive regulation of lipid storage GO:0010884 9.76 LPL APOB
35 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.76 PPARG PPARA
36 long-chain fatty acid metabolic process GO:0001676 9.76 SLC27A6 SLC27A4 SLC27A1
37 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.75 TLR4 LPL
38 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.75 TLR4 CD36
39 positive regulation of phagocytosis, engulfment GO:0060100 9.75 PPARG CD36
40 I-kappaB phosphorylation GO:0007252 9.75 TLR4 TLR2
41 cholesterol catabolic process GO:0006707 9.75 SCARB1 APOE
42 high-density lipoprotein particle clearance GO:0034384 9.75 SCARB1 APOE
43 chylomicron assembly GO:0034378 9.74 APOE APOB
44 intestinal cholesterol absorption GO:0030299 9.74 NPC1L1 CD36
45 negative regulation of cholesterol storage GO:0010887 9.74 PPARG PPARA
46 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.74 TLR4 CD36
47 positive regulation of macrophage cytokine production GO:0060907 9.74 TLR4 CD36
48 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 LPL CD36 APOB
49 interleukin-1 beta secretion GO:0050702 9.73 TLR4 CD36
50 chylomicron remnant clearance GO:0034382 9.73 APOE APOB

Molecular functions related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.1 TLR4 TLR2 THBS1 SCARB1 PPARG INS
2 protein-containing complex binding GO:0044877 9.96 TLR2 PPARA FYN CD36 APOE
3 signaling receptor activity GO:0038023 9.89 TLR4 TLR2 PPARG PPARA
4 heparin binding GO:0008201 9.84 THBS1 LPL APOE APOB
5 drug binding GO:0008144 9.76 PPARG PPARA NPC1L1
6 nuclear receptor transcription coactivator activity GO:0030374 9.75 SRA1 PPARG PPARA
7 phosphatidylserine binding GO:0001786 9.74 THBS1 SCARB2 SCARB1
8 scavenger receptor activity GO:0005044 9.7 SCARB2 SCARB1 CD36
9 lipopolysaccharide binding GO:0001530 9.65 TLR4 TLR2 SCARB1
10 lipid transporter activity GO:0005319 9.63 NPC1L1 APOE APOB
11 low-density lipoprotein particle binding GO:0030169 9.61 THBS1 SCARB1 CD36
12 long-chain fatty acid-CoA ligase activity GO:0004467 9.58 SLC27A6 SLC27A4 SLC27A1
13 Toll-like receptor binding GO:0035325 9.55 TLR2 CD36
14 arachidonate-CoA ligase activity GO:0047676 9.54 SLC27A6 SLC27A4 SLC27A1
15 thrombospondin receptor activity GO:0070053 9.51 CD47 CD36
16 very long-chain fatty acid-CoA ligase activity GO:0031957 9.5 SLC27A6 SLC27A4 SLC27A1
17 lipoprotein particle binding GO:0071813 9.43 LPL CD36 APOE
18 amyloid-beta binding GO:0001540 9.35 TLR4 TLR2 SCARB1 CD36 APOE
19 lipopolysaccharide receptor activity GO:0001875 9.33 TLR4 TLR2 SCARB1
20 long-chain fatty acid transporter activity GO:0005324 8.92 SLC27A6 SLC27A4 SLC27A1 CD36

Sources for Platelet Glycoprotein Iv Deficiency

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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