PG4D
MCID: PLT004
MIFTS: 51

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 lipid metabolism disorder. 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 liver, and related phenotypes are abnormality of the endocrine system and thrombocytopenia

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 83)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 29.8 INS APOE APOB
2 lipid metabolism disorder 29.2 SCARB1 PPARA INS APOE APOB
3 macular degeneration, age-related, 1 28.9 TLR4 THBS1 INS APOE APOB
4 dilated cardiomyopathy 28.1 TLR4 SRA1 SLC27A6 SLC27A1 PPARA PNPLA2
5 heart disease 27.9 TLR4 PPARA NPC1L1 INS CD36 APOE
6 ichthyosis prematurity syndrome 10.3 SLC27A4 SLC27A1
7 xanthoma disseminatum 10.3 APOE APOB
8 atrial standstill 1 10.3
9 hypercholesterolemia, familial, 2 10.3 APOE APOB
10 defective apolipoprotein b-100 10.3 APOE APOB
11 hypertrophic cardiomyopathy 10.2
12 restrictive dermopathy, lethal 10.2 SLC27A6 SLC27A4 SLC27A1
13 lipoprotein glomerulopathy 10.2 APOE APOB
14 hyperlipoproteinemia, type iv 10.2 APOE APOB
15 huntington disease-like 1 10.2 SCARB1 APOE APOB
16 hyperalphalipoproteinemia 1 10.1 SCARB1 APOE APOB
17 hypolipoproteinemia 10.1 SCARB1 APOE APOB
18 purpura 10.1
19 silent myocardial infarction 10.0 INS APOB
20 sitosterolemia 10.0 SCARB1 NPC1L1 APOB
21 non-alcoholic steatohepatitis 10.0 PPARA INS
22 thrombocytopenia 10.0
23 retinal degeneration 10.0
24 idiopathic edema 10.0 PPARA INS
25 severe nonproliferative diabetic retinopathy 10.0 INS APOB
26 homozygous familial hypercholesterolemia 9.9 APOE APOB
27 tangier disease 9.9 SCARB1 PPARA APOE APOB
28 fatty liver disease, nonalcoholic 1 9.9 PPARA INS
29 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.9 PPARA INS APOB
30 fetal macrosomia 9.9 INS APOB
31 chlamydia pneumonia 9.9 TLR4 APOE
32 generalized atherosclerosis 9.9 INS APOE APOB
33 prediabetes syndrome 9.9 PPARA INS APOB
34 endocrine pancreas disease 9.9 PPARA INS APOB
35 hyperlipoproteinemia, type v 9.9 INS APOE APOB
36 cholelithiasis 9.9 SCARB1 INS APOE
37 abdominal obesity-metabolic syndrome 1 9.9 PPARA INS APOB
38 thrombocytopenic purpura, autoimmune 9.9
39 takayasu arteritis 9.9
40 yemenite deaf-blind hypopigmentation syndrome 9.9
41 kawasaki disease 9.9
42 angina pectoris 9.9
43 visual epilepsy 9.9
44 hemolytic-uremic syndrome 9.9
45 hyperinsulinism 9.9
46 ischemia 9.9
47 hyperglycemia 9.9
48 aortic valve insufficiency 9.9
49 diabetes mellitus 9.9
50 hypoglycemia 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 abnormality of the endocrine system 31 HP:0000818
2 thrombocytopenia 31 HP:0001873
3 prolonged bleeding time 31 HP:0003010
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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 APOB APOE CD36 CD47 DGAT2 INS
2 cellular MP:0005384 10.29 APOB APOE CD36 CD47 INS PNPLA2
3 growth/size/body region MP:0005378 10.29 APOB APOE CD36 DGAT2 INS NPC1L1
4 cardiovascular system MP:0005385 10.26 APOB APOE CD36 CD47 INS PNPLA2
5 immune system MP:0005387 10.21 APOB APOE CD36 CD47 INS PPARA
6 adipose tissue MP:0005375 10.19 APOE CD36 DGAT2 INS PNPLA2 PPARA
7 mortality/aging MP:0010768 10.17 APOB APOE CD36 CD47 DGAT2 INS
8 liver/biliary system MP:0005370 10.11 APOB APOE CD36 INS NPC1L1 PNPLA2
9 digestive/alimentary MP:0005381 10.1 APOE CD36 INS NPC1L1 SLC27A4 THBS1
10 integument MP:0010771 10.1 APOE CD47 DGAT2 INS PNPLA2 PPARA
11 muscle MP:0005369 10 APOB APOE CD36 CD47 INS PNPLA2
12 renal/urinary system MP:0005367 9.76 APOE CD36 INS PPARA SCARB2 SRA1
13 skeleton MP:0005390 9.61 APOE CD36 CD47 INS SCARB2 SLC27A4
14 vision/eye MP:0005391 9.23 APOB APOE CD36 CD47 INS SRA1

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, Liver, Neutrophil, Brain, Smooth Muscle, Lymph Node

Publications for Platelet Glycoprotein Iv Deficiency

Articles related to Platelet Glycoprotein Iv Deficiency:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. 61 56 6
10946357 2000
2
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. 61 56 6
7533783 1995
3
Malaria susceptibility and CD36 mutation. 56 6
10890433 2000
4
A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency. 56 6
7686693 1993
5
Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. 61 6
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? 61 56
9040027 1997
12
A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency. 61 6
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. 61 56
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
A case of platelet transfusion refractoriness due to anti-CD36 with a successful treatment outcome. 61
31935329 2019
22
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
23
Loss of CD36 protects against diet-induced obesity but results in impaired muscle stem cell function, delayed muscle regeneration and hepatic steatosis. 61
31599493 2019
24
Type 1 cluster of differentiation 36 deficiency-related cardiomyopathy accelerates heart failure with co-existing mitral valve prolapse: a case report. 61
31660489 2019
25
Oxidized LDL upregulates macrophage DPP4 expression via TLR4/TRIF/CD36 pathways. 61
30738832 2019
26
A string of 12 mutations in Intron 3 is a new clue associated with Type II CD36 deficiency. 61
30840330 2019
27
[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
28
CD36 Enhances Vascular Smooth Muscle Cell Proliferation and Development of Neointimal Hyperplasia. 61
30567481 2019
29
CD36 Deficiency Inhibits Retinal Inflammation and Retinal Degeneration in Cx3cr1 Knockout Mice. 61
31969887 2019
30
2-Year follow-up of a patient with CD36 deficiency and takotsubo cardiomyopathy. 61
30187241 2018
31
CD36 and lipid metabolism in the evolution of atherosclerosis. 61
29534172 2018
32
Treatment with medium chain fatty acids milk of CD36-deficient preschool children. 61
29524782 2018
33
CD36 deficiency attenuates immune-mediated hepatitis in mice by modulating the proapoptotic effects of CXC chemokine ligand 10. 61
29220536 2018
34
[Anti-CD36 Mediated Platelet Transfusion Refractoriness and Related Cases After Stem Cell Transplantation]. 61
29665929 2018
35
Successful management of a hydropic fetus with severe anemia and thrombocytopenia caused by anti-CD36 antibody. 61
28815406 2018
36
Fetal/neonatal alloimmune thrombocytopenia due to anti-CD36 antibodies: antibody evaluations by CD36-transfected cell lines. 61
29030871 2018
37
CD36 Deficiency Suppresses Epileptic Seizures. 61
29111364 2017
38
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
39
Inflammatory stress promotes the development of obesity-related chronic kidney disease via CD36 in mice. 61
28536108 2017
40
Activation of PPARγ does not contribute to macrophage ABCA1 expression and ABCA1-mediated cholesterol efflux to apoAI. 61
27890613 2017
41
CD36 deficiency impairs the small intestinal barrier and induces subclinical inflammation in mice. 61
28066800 2017
42
[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
43
Alterations in the cardiac proteome of the spontaneously hypertensive rat induced by transgenic expression of CD36. 61
27132684 2016
44
LPA/PKD-1-FoxO1 Signaling Axis Mediates Endothelial Cell CD36 Transcriptional Repression and Proangiogenic and Proarteriogenic Reprogramming. 61
27013613 2016
45
[CD36 Antigen Deficiency and Platelet Transfusion]. 61
27342537 2016
46
Genetic variations of CD36 and low platelet CD36 expression - a risk factor for lipemic plasma donation in Taiwanese apheresis donors. 61
26528880 2016
47
Microarray Integrated Analysis of a Gene Network for the CD36 Myocardial Phenotype. 61
28293076 2016
48
Cluster Differentiating 36 (CD36) Deficiency Attenuates Obesity-Associated Oxidative Stress in the Heart. 61
27195707 2016
49
CD36 deficiency blunts effects of diet on regulatory T cells in murine gonadal adipose tissue and mesenteric lymph nodes. 61
26344897 2015
50
Myocardial energy provision is preserved by increased utilization of glucose and ketone bodies in CD36 knockout mice. 61
26130608 2015

Variations for Platelet Glycoprotein Iv Deficiency

ClinVar genetic disease variations for Platelet Glycoprotein Iv Deficiency:

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# 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 NM_001001547.3(CD36):c.330_331CA[1] (p.Thr111fs)short repeat Pathogenic 225309 rs572295823 7:80290426-80290427 7:80661110-80661111
3 CD36 NM_001001547.3(CD36):c.268C>T (p.Pro90Ser)SNV Pathogenic 13535 rs75326924 7:80286003-80286003 7:80656687-80656687
4 CD36 NM_001001547.3(CD36):c.760T>C (p.Phe254Leu)SNV Pathogenic 13540 rs142186404 7:80299280-80299280 7:80669964-80669964
5 CD36 NM_001001547.3(CD36):c.1237A>C (p.Ile413Leu)SNV Pathogenic 13541 rs121918035 7:80302708-80302708 7:80673392-80673392
6 CD36 CD36, G1439C, 1-BP DEL, 1444Adeletion Pathogenic,risk factor 13537
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.1156C>T (p.Arg386Trp)SNV Likely pathogenic 632510 rs148910227 7:80302116-80302116 7:80672800-80672800
11 CD36 NM_001001547.3(CD36):c.1150del (p.Ala384fs)deletion Likely pathogenic 692065 7:80302110-80302110 7:80672794-80672794
12 CD36 NM_001001547.3(CD36):c.1410_1414AATAA[1] (p.Lys472fs)short repeat Likely pathogenic 692066 7:80303454-80303458 7:80674138-80674142
13 CD36 NM_001001547.3(CD36):c.390A>T (p.Thr130=)SNV Conflicting interpretations of pathogenicity 360756 rs148114593 7:80290487-80290487 7:80661171-80661171
14 CD36 NM_001001547.3(CD36):c.1133G>T (p.Gly378Val)SNV Uncertain significance 360767 rs146027667 7:80302093-80302093 7:80672777-80672777
15 CD36 NM_001001547.3(CD36):c.1220_1222del (p.Arg407del)deletion Uncertain significance 360769 rs773274847 7:80302689-80302691 7:80673373-80673375
16 CD36 NM_001001547.3(CD36):c.*202G>TSNV Uncertain significance 360772 rs143304806 7:80303665-80303665 7:80674349-80674349
17 CD36 NM_001001547.3(CD36):c.*226A>GSNV Uncertain significance 360773 rs8956 7:80303689-80303689 7:80674373-80674373
18 CD36 NM_001001547.3(CD36):c.-286C>ASNV Uncertain significance 360743 rs886062450 7:80231593-80231593 7:80602277-80602277
19 CD36 NM_001001547.3(CD36):c.374C>T (p.Ser125Leu)SNV Uncertain significance 360755 rs886062453 7:80290471-80290471 7:80661155-80661155
20 CD36 NM_001001547.3(CD36):c.405C>G (p.Phe135Leu)SNV Uncertain significance 360757 rs747515126 7:80290502-80290502 7:80661186-80661186
21 CD36 NM_001001547.3(CD36):c.429+15A>GSNV Uncertain significance 360758 rs371196837 7:80290541-80290541 7:80661225-80661225
22 CD36 NM_001001547.3(CD36):c.456A>G (p.Gln152=)SNV Uncertain significance 360759 rs543785881 7:80292332-80292332 7:80663016-80663016
23 CD36 NM_001001547.3(CD36):c.640G>A (p.Val214Ile)SNV Uncertain significance 360760 rs190735330 7:80293752-80293752 7:80664436-80664436
24 CD36 NM_001001547.3(CD36):c.1000A>G (p.Lys334Glu)SNV Uncertain significance 360764 rs199628571 7:80300474-80300474 7:80671158-80671158
25 CD36 NM_001001547.3(CD36):c.1126-15T>CSNV Uncertain significance 360766 rs758766716 7:80302071-80302071 7:80672755-80672755
26 CD36 NM_001001547.3(CD36):c.1181_1185dup (p.Glu397fs)duplication Uncertain significance 360768 rs757570230 7:80302138-80302139 7:80672822-80672823
27 CD36 NM_001001547.3(CD36):c.1279G>T (p.Ala427Ser)SNV Uncertain significance 360770 rs201527696 7:80303323-80303323 7:80674007-80674007
28 CD36 NM_001001547.3(CD36):c.-297G>ASNV Uncertain significance 360742 rs886062449 7:80231582-80231582 7:80602266-80602266
29 CD36 NM_001001547.3(CD36):c.-150T>ASNV Uncertain significance 360747 rs532897983 7:80275437-80275437 7:80646121-80646121
30 CD36 NM_001001547.3(CD36):c.-325G>ASNV Uncertain significance 360741 rs886062448 7:80231554-80231554 7:80602238-80602238
31 CD36 NM_001001547.3(CD36):c.-208C>TSNV Uncertain significance 360746 rs886062451 7:80231671-80231671 7:80602355-80602355
32 CD36 NM_001001547.3(CD36):c.-211C>TSNV Uncertain significance 360744 rs151218598 7:80231668-80231668 7:80602352-80602352
33 CD36 NM_001001547.3(CD36):c.-209C>TSNV Uncertain significance 360745 rs539733007 7:80231670-80231670 7:80602354-80602354
34 CD36 NM_001001547.3(CD36):c.282-14T>ASNV Uncertain significance 360753 rs754938089 7:80290365-80290365 7:80661049-80661049
35 CD36 NM_001001547.3(CD36):c.682G>A (p.Asp228Asn)SNV Uncertain significance 360762 rs774794181 7:80293794-80293794 7:80664478-80664478
36 CD36 NM_001001547.3(CD36):c.*47A>GSNV Uncertain significance 360771 rs759397538 7:80303510-80303510 7:80674194-80674194
37 CD36 NM_001001547.3(CD36):c.1297_1301del (p.Gln433fs)deletion Uncertain significance 632012 rs755620205 7:80303337-80303341 7:80674021-80674025
38 CD36 NM_001001547.3(CD36):c.430-2A>GSNV Uncertain significance 632009 rs3211901 7:80292304-80292304 7:80662988-80662988
39 CD36 NM_001001547.3(CD36):c.609+1G>ASNV Uncertain significance 632010 rs755124649 7:80292486-80292486 7:80663170-80663170
40 CD36 NM_001001547.3(CD36):c.701+1deldeletion Uncertain significance 632011 rs775534351 7:80293813-80293813 7:80664497-80664497
41 CD36 NM_001001547.3(CD36):c.1126-5_1127deldeletion Uncertain significance 632509 rs770511058 7:80302080-80302086 7:80672764-80672770
42 CD36 NM_001001547.3(CD36):c.1254+1G>ASNV Uncertain significance 417926 rs148051111 7:80302726-80302726 7:80673410-80673410
43 CD36 NM_001001547.3(CD36):c.220C>T (p.Gln74Ter)SNV Uncertain significance 632007 rs545489204 7:80285955-80285955 7:80656639-80656639
44 CD36 NM_001001547.3(CD36):c.380C>G (p.Ser127Ter)SNV Uncertain significance 632008 rs201765331 7:80290477-80290477 7:80661161-80661161
45 CD36 NM_001001547.3(CD36):c.1079T>G (p.Leu360Ter)SNV Uncertain significance 632507 rs56381858 7:80301310-80301310 7:80671994-80671994
46 CD36 NM_001001547.3(CD36):c.1112_1119dup (p.Glu374fs)duplication Uncertain significance 632508 rs1242969201 7:80301341-80301342 7:80672025-80672026
47 CD36 NM_001001547.3(CD36):c.649G>A (p.Gly217Arg)SNV Uncertain significance 360761 rs200067322 7:80293761-80293761 7:80664445-80664445
48 CD36 NM_001001547.3(CD36):c.853C>T (p.Leu285=)SNV Uncertain significance 360763 rs780267115 7:80300327-80300327 7:80671011-80671011
49 CD36 NM_001001547.3(CD36):c.1125+13C>ASNV Uncertain significance 360765 rs3211942 7:80301369-80301369 7:80672053-80672053
50 CD36 NM_001001547.3(CD36):c.159T>C (p.Asn53=)SNV Uncertain significance 360751 rs886062452 7:80285894-80285894 7:80656578-80656578

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 SCARB1 NPC1L1 APOE APOB
2 12.31 PNPLA2 NPC1L1 INS APOE
3
Show member pathways
12.13 SCARB1 INS APOE APOB
4 11.92 TLR4 THBS1 SCARB1 CD36
5
Show member pathways
11.81 TLR4 SCARB1 CD47 CD36
6
Show member pathways
11.74 SCARB1 CD36 APOE APOB
7
Show member pathways
11.64 SCARB1 CD36 APOE APOB
9
Show member pathways
11.47 SLC27A6 SLC27A4 SLC27A1 PPARA INS CD36
10 11.43 SLC27A6 SLC27A4 SLC27A1 PPARA CD36
11 11.35 TLR4 THBS1 CD36
12 11.28 SCARB1 NPC1L1 CD36
13 11.06 TLR4 CD47 CD36 APOE
14
Show member pathways
10.74 SLC27A4 SCARB1 NPC1L1 DGAT2 CD36 APOB

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 cell surface GO:0009986 9.85 TLR4 THBS1 SCARB1 CD47 CD36
2 endocytic vesicle membrane GO:0030666 9.5 SCARB2 SCARB1 CD36
3 endosome lumen GO:0031904 9.48 INS APOB
4 plasma membrane GO:0005886 9.47 VAV1 TLR4 SRA1 SLC27A6 SLC27A4 SLC27A1
5 endocytic vesicle lumen GO:0071682 9.43 APOE APOB
6 low-density lipoprotein particle GO:0034362 9.4 APOE APOB
7 chylomicron GO:0042627 9.37 APOE APOB
8 endoplasmic reticulum lumen GO:0005788 9.35 THBS1 PNPLA2 INS APOE APOB
9 brush border membrane GO:0031526 9.33 SLC27A4 NPC1L1 CD36
10 intermediate-density lipoprotein particle GO:0034363 9.26 APOE APOB

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

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.95 PNPLA2 INS APOE APOB
2 fatty acid metabolic process GO:0006631 9.91 SLC27A6 SLC27A4 SLC27A1 PPARA CD36
3 steroid metabolic process GO:0008202 9.9 NPC1L1 APOE APOB
4 response to bacterium GO:0009617 9.89 TLR4 CD47 CD36
5 wound healing GO:0042060 9.88 SCARB1 PPARA INS
6 cholesterol metabolic process GO:0008203 9.88 NPC1L1 APOE APOB
7 cholesterol homeostasis GO:0042632 9.88 SCARB1 DGAT2 APOE APOB
8 receptor-mediated endocytosis GO:0006898 9.88 SCARB2 SCARB1 CD36 APOE APOB
9 regulation of lipid metabolic process GO:0019216 9.87 SLC27A1 PPARA CD36
10 toll-like receptor signaling pathway GO:0002224 9.78 TLR4 CD36 APOB
11 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 SCARB1 INS APOE
12 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.73 TLR4 THBS1
13 nitric oxide mediated signal transduction GO:0007263 9.73 CD36 APOE
14 cholesterol efflux GO:0033344 9.73 SCARB1 APOE APOB
15 reverse cholesterol transport GO:0043691 9.72 SCARB1 APOE
16 positive regulation of macrophage activation GO:0043032 9.72 TLR4 THBS1
17 high-density lipoprotein particle remodeling GO:0034375 9.72 SCARB1 APOE
18 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 CD36 APOB
19 lipid storage GO:0019915 9.72 PNPLA2 DGAT2 CD36
20 lipoprotein transport GO:0042953 9.71 CD36 APOB
21 regulation of cholesterol metabolic process GO:0090181 9.71 DGAT2 APOE
22 intestinal absorption GO:0050892 9.71 SCARB1 CD36
23 positive regulation of blood coagulation GO:0030194 9.71 THBS1 CD36
24 long-chain fatty acid metabolic process GO:0001676 9.71 SLC27A6 SLC27A4 SLC27A1
25 lipoprotein metabolic process GO:0042157 9.71 PPARA NPC1L1 APOE APOB
26 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.7 TLR4 CD36
27 fatty acid homeostasis GO:0055089 9.7 INS DGAT2 APOE
28 positive regulation of lipid biosynthetic process GO:0046889 9.69 INS APOE
29 low-density lipoprotein particle remodeling GO:0034374 9.69 APOE APOB
30 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.69 TLR4 CD36
31 positive regulation of gluconeogenesis GO:0045722 9.68 PPARA DGAT2
32 cholesterol catabolic process GO:0006707 9.68 SCARB1 APOE
33 high-density lipoprotein particle clearance GO:0034384 9.68 SCARB1 APOE
34 cellular response to lipoteichoic acid GO:0071223 9.68 TLR4 CD36
35 chylomicron assembly GO:0034378 9.67 APOE APOB
36 intestinal cholesterol absorption GO:0030299 9.67 NPC1L1 CD36
37 positive regulation of macrophage cytokine production GO:0060907 9.67 TLR4 CD36
38 positive regulation of triglyceride biosynthetic process GO:0010867 9.67 SLC27A1 SCARB1 DGAT2
39 low-density lipoprotein particle clearance GO:0034383 9.67 SCARB1 DGAT2 CD36 APOB
40 interleukin-1 beta secretion GO:0050702 9.66 TLR4 CD36
41 chylomicron remnant clearance GO:0034382 9.66 APOE APOB
42 chylomicron remodeling GO:0034371 9.65 APOE APOB
43 acylglycerol acyl-chain remodeling GO:0036155 9.65 PNPLA2 DGAT2
44 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.64 TLR4 CD36
45 cholesterol import GO:0070508 9.64 SCARB1 CD36
46 lipoprotein biosynthetic process GO:0042158 9.63 APOE APOB
47 very-low-density lipoprotein particle clearance GO:0034447 9.63 APOE APOB
48 long-chain fatty acid import GO:0044539 9.63 SLC27A4 SLC27A1 CD36
49 regulation of plasma lipoprotein particle levels GO:0097006 9.62 DGAT2 APOE
50 lipoprotein catabolic process GO:0042159 9.62 APOE APOB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylserine binding GO:0001786 9.63 THBS1 SCARB2 SCARB1
2 amyloid-beta binding GO:0001540 9.62 TLR4 SCARB1 CD36 APOE
3 scavenger receptor activity GO:0005044 9.61 SCARB2 SCARB1 CD36
4 intermembrane cholesterol transfer activity GO:0120020 9.51 APOE APOB
5 high-density lipoprotein particle binding GO:0008035 9.49 SCARB1 CD36
6 lipoprotein particle binding GO:0071813 9.48 CD36 APOE
7 low-density lipoprotein particle binding GO:0030169 9.43 THBS1 SCARB1 CD36
8 lipopolysaccharide receptor activity GO:0001875 9.4 TLR4 SCARB1
9 thrombospondin receptor activity GO:0070053 9.37 CD47 CD36
10 long-chain fatty acid-CoA ligase activity GO:0004467 9.33 SLC27A6 SLC27A4 SLC27A1
11 long-chain fatty acid transporter activity GO:0005324 9.13 SLC27A6 SLC27A4 SLC27A1
12 very long-chain fatty acid-CoA ligase activity GO:0031957 8.8 SLC27A6 SLC27A4 SLC27A1

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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