MCID: GRY002
MIFTS: 55

Gray Platelet Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Gray Platelet Syndrome

MalaCards integrated aliases for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 57 12 76 53 25 59 75 29 13 55 6 44 40 73
Platelet Alpha-Granule Deficiency 57 12 53 25 59 75 73
Gps 57 12 53 25 59 75
Bdplt4 57 12 25 75
Bleeding Disorder, Platelet-Type, 4 57 25
Grey Platelet Syndrome 25 75
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 53
Bleeding Disorder, Platelet-Type, 4; Bdplt4 57
Platelet-Type Bleeding Disorder 4 12
Platelet Alpha Granule Deficiency 25
Bleeding Disorder Platelet-Type 4 75
Deficient Alpha Granule Syndrome 25
Alpha Storage Pool Deficiency 59
Platelet Granule Defect 25

Characteristics:

Orphanet epidemiological data:

59
gray platelet syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of bleeding in infancy or early childhood


HPO:

32
gray platelet syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 139090
Disease Ontology 12 DOID:0111044
ICD10 33 D69.1
MeSH 44 D055652
Orphanet 59 ORPHA721
MESH via Orphanet 45 D055652
UMLS via Orphanet 74 C0272302 C2717750
ICD10 via Orphanet 34 D69.1
MedGen 42 C0272302

Summaries for Gray Platelet Syndrome

OMIM : 57 The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007). Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause. (139090)

MalaCards based summary : Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to glanzmann thrombasthenia and bernard-soulier syndrome. An important gene associated with Gray Platelet Syndrome is NBEAL2 (Neurobeachin Like 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. Affiliated tissues include neutrophil, bone and bone marrow, and related phenotypes are splenomegaly and myelodysplasia

Disease Ontology : 12 An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material basis in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.

Genetics Home Reference : 25 Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.

NIH Rare Diseases : 53 Gray plateletsyndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. 

UniProtKB/Swiss-Prot : 75 Gray platelet syndrome: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.

Wikipedia : 76 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Related Diseases for Gray Platelet Syndrome

Diseases related to Gray Platelet Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 32.4 GP9 SELP VWF
2 bernard-soulier syndrome 31.1 GP5 GP9 VWF
3 thrombocytopenia due to platelet alloimmunization 30.2 CD40LG SELP
4 thrombocytopenia 29.3 GATA1 GP9 MASTL MPIG6B
5 blood platelet disease 28.1 CD40LG GP5 GP9 SELP VWF
6 genitopatellar syndrome 11.8
7 bleeding disorder, platelet-type, 17 11.0
8 storage pool platelet disease 10.8 GFI1B NBEAL2
9 platelet aggregation, spontaneous 10.7 SELP VWF
10 thrombocytopenia 1 10.6 GATA1 SELP
11 von willebrand disease, type 1 10.6 GP6 VWF
12 heparin-induced thrombocytopenia 10.6 CD40LG SELP
13 cerebral arteritis 10.5 CD40LG VWF
14 thrombocytopenia-absent radius syndrome 10.5 GATA1 GFI1B NBEAL2
15 monoclonal paraproteinemia 10.5 CD40LG VWF
16 osteosclerotic myeloma 10.3 CD40LG VWF
17 cervical adenosarcoma 10.3 GP5 GP6
18 bone marrow cancer 10.3 GATA1 SELP VWF
19 korean hemorrhagic fever 10.3 CD40LG VWF
20 inverted follicular keratosis 10.3 GP5 GP6
21 primary thrombocytopenia 10.3 CD40LG SELP VWF
22 essential thrombocythemia 10.2 GATA1 SELP VWF
23 cervical carcinosarcoma 10.2 GP5 GP6
24 cervix uteri carcinoma in situ 10.2 GP5 GP6
25 inherited blood coagulation disease 10.1 GP9 VWF
26 cervix disease 10.1 CD40LG GP6
27 autoimmune disease of blood 10.0 CD40LG VWF
28 myelofibrosis 9.9
29 coronary thrombosis 9.9 GP6 VWF
30 autoimmune lymphoproliferative syndrome 9.8
31 lymphoproliferative syndrome 9.8
32 qualitative platelet defect 9.8 CD36 SELP VWF
33 mccune-albright syndrome 9.7
34 myocardial infarction 9.7
35 acute myocardial infarction 9.7
36 hematopoietic stem cell transplantation 9.7
37 adult-onset still's disease 9.7
38 meningitis 9.7
39 splenomegaly 9.7
40 endotheliitis 9.7
41 blood coagulation disease 9.7 CD40LG GP9 SELP VWF
42 thrombasthenia 9.5 CD36 GP9 SELP
43 caffey disease 9.5 CD36 CD40LG

Graphical network of the top 20 diseases related to Gray Platelet Syndrome:



Diseases related to Gray Platelet Syndrome

Symptoms & Phenotypes for Gray Platelet Syndrome

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Laboratory Abnormalities:
low-to-normal platelet count
median mean platelet volume 13fl
prolonged bleeding time (10 - >30 minutes)
normal platelet aggregation response to arachidonic acid (aa)
reduced platelet aggregation response to collagen and thrombin
more
Hematology:
thrombocytopenia
epistaxis
menorrhagia
myelofibrosis
easy bruisability
more

Clinical features from OMIM:

139090

Human phenotypes related to Gray Platelet Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 myelodysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002863
3 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
4 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
5 abnormality of the menstrual cycle 59 32 frequent (33%) Frequent (79-30%) HP:0000140
6 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
7 abnormal bleeding 59 Very frequent (99-80%)
8 abnormality of thrombocytes 59 Very frequent (99-80%)
9 prolonged bleeding time 32 HP:0003010
10 menorrhagia 32 HP:0000132
11 myelofibrosis 32 HP:0011974
12 impaired collagen-induced platelet aggregation 32 HP:0008320
13 reduced von willebrand factor activity 32 HP:0008330
14 impaired thrombin-induced platelet aggregation 32 HP:0011872
15 reduced quantity of von willebrand factor 32 HP:0012147

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 SPARC TREML1 VWF CD36 CD40LG GATA1
2 cellular MP:0005384 10.07 GATA1 GFI1B MASTL MPIG6B NBEAL2 PLCG2
3 homeostasis/metabolism MP:0005376 10.07 CD36 CD40LG GATA1 GFI1B GP5 GP6
4 cardiovascular system MP:0005385 10.06 CD36 CD40LG CLDN5 GATA1 GFI1B PLCG2
5 immune system MP:0005387 9.93 CD36 CD40LG GATA1 GFI1B GP6 MPIG6B
6 integument MP:0010771 9.56 CD40LG GATA1 GFI1B GP6 PLCG2 SELP
7 skeleton MP:0005390 9.28 CD36 CD40LG GATA1 MPIG6B NBEAL2 PLCG2

Drugs & Therapeutics for Gray Platelet Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Gray Platelet Syndrome Completed NCT00069680
2 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476

Search NIH Clinical Center for Gray Platelet Syndrome

Cochrane evidence based reviews: gray platelet syndrome

Genetic Tests for Gray Platelet Syndrome

Genetic tests related to Gray Platelet Syndrome:

# Genetic test Affiliating Genes
1 Gray Platelet Syndrome 29 NBEAL2

Anatomical Context for Gray Platelet Syndrome

MalaCards organs/tissues related to Gray Platelet Syndrome:

41
Neutrophil, Bone, Bone Marrow, Endothelial

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

(show top 50) (show all 70)
# Title Authors Year
1
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )
2018
2
NBEAL2 mutations and bleeding in patients with gray platelet syndrome. ( 29869935 )
2018
3
Gray platelet syndrome: Novel mutations of the NBEAL2 gene. ( 27870194 )
2017
4
A case of adult-onset Still's disease accompanied by pseudo-gray platelet syndrome. ( 29043244 )
2017
5
A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome. ( 28504079 )
2017
6
Should any Genetic Defect Affecting I+-Granules in Platelets be Classified as Gray Platelet Syndrome? ( 26971401 )
2016
7
Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. ( 26588455 )
2016
8
Corrigendum: Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. ( 27126656 )
2016
9
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice. ( 26950939 )
2016
10
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. ( 26987485 )
2016
11
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome. ( 25806575 )
2015
12
A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. ( 26287868 )
2015
13
Pseudo gray platelet syndrome: the first case report in Korea. ( 26157784 )
2015
14
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015
15
A dominant-negative GFI1B mutation in the gray platelet syndrome. ( 24325358 )
2014
16
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. ( 25258341 )
2014
17
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. ( 24577417 )
2014
18
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. ( 24635673 )
2014
19
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. ( 23863626 )
2013
20
Successful hematopoietic engraftment with gray platelets after allogeneic hematopoietic stem cell transplantation from gray platelet syndrome donor. ( 23358204 )
2013
21
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. ( 25003009 )
2013
22
Gray platelet syndrome. ( 23427340 )
2013
23
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. ( 23193541 )
2012
24
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. ( 21765412 )
2011
25
Successful pregnancy and delivery in a woman with gray platelet syndrome. ( 21443042 )
2011
26
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. ( 22102272 )
2011
27
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. ( 21765411 )
2011
28
Gray platelet syndrome. ( 21800352 )
2011
29
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. ( 21263149 )
2011
30
Expanding perfusion across disciplines: the use of thrombelastography technology to reduce risk in an obstetrics patient with Gray Platelet Syndrome--a case study. ( 21227981 )
2011
31
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. ( 21765413 )
2011
32
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. ( 20524979 )
2010
33
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. ( 20709904 )
2010
34
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. ( 18612537 )
2008
35
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. ( 17209061 )
2007
36
The gray platelet syndrome: clinical spectrum of the disease. ( 16442192 )
2007
37
Defective platelet responsiveness to thrombin and protease-activated receptors agonists in a novel case of gray platelet syndrome: correlation between the platelet defect and the alpha-granule content in the patient and four relatives. ( 17137471 )
2007
38
Gray Platelet Syndrome in a Somalian family. ( 17127480 )
2006
39
Neutrophil secretory defect in the gray platelet syndrome: a new case. ( 16308182 )
2006
40
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. ( 16102114 )
2005
41
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. ( 15010364 )
2004
42
Neutrophils in the gray platelet syndrome. ( 15370105 )
2004
43
Gray platelet syndrome presenting as menorrhagia. ( 12627861 )
2003
44
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. ( 12463604 )
2002
45
Newly recognized cellular abnormalities in the gray platelet syndrome. ( 11520786 )
2001
46
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. ( 11708859 )
2001
47
The magic of immersion oil: gray platelet syndrome. ( 9658735 )
1998
48
Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency). ( 9042822 )
1997
49
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. ( 8192152 )
1994
50
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. ( 7504696 )
1993

Variations for Gray Platelet Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gray Platelet Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 NBEAL2 p.Leu388Pro VAR_066976 rs387907113
2 NBEAL2 p.Glu643Val VAR_066977 rs387907114
3 NBEAL2 p.Trp677Arg VAR_066978
4 NBEAL2 p.Glu1833Lys VAR_066980
5 NBEAL2 p.Arg1839Cys VAR_066981 rs750160418
6 NBEAL2 p.Pro2100Leu VAR_066982 rs387907115
7 NBEAL2 p.His2263Tyr VAR_066983
8 NBEAL2 p.Ser2269Leu VAR_066984 rs749896920

ClinVar genetic disease variations for Gray Platelet Syndrome:

6
(show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBEAL2 NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs387907112 GRCh37 Chromosome 3, 47038800: 47038800
2 NBEAL2 NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs387907112 GRCh38 Chromosome 3, 46997310: 46997310
3 NBEAL2 NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs372277612 GRCh37 Chromosome 3, 47033134: 47033134
4 NBEAL2 NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs372277612 GRCh38 Chromosome 3, 46991644: 46991644
5 NBEAL2 NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro) single nucleotide variant Pathogenic rs387907113 GRCh37 Chromosome 3, 47035476: 47035476
6 NBEAL2 NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro) single nucleotide variant Pathogenic rs387907113 GRCh38 Chromosome 3, 46993986: 46993986
7 NBEAL2 NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val) single nucleotide variant Pathogenic rs387907114 GRCh37 Chromosome 3, 47037233: 47037233
8 NBEAL2 NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val) single nucleotide variant Pathogenic rs387907114 GRCh38 Chromosome 3, 46995743: 46995743
9 NBEAL2 NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu) single nucleotide variant Pathogenic rs387907115 GRCh37 Chromosome 3, 47046466: 47046466
10 NBEAL2 NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu) single nucleotide variant Pathogenic rs387907115 GRCh38 Chromosome 3, 47004976: 47004976
11 NBEAL2 NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter) single nucleotide variant Pathogenic rs794726682 GRCh38 Chromosome 3, 46995558: 46995558
12 NBEAL2 NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter) single nucleotide variant Pathogenic rs794726682 GRCh37 Chromosome 3, 47037048: 47037048
13 NBEAL2 NM_015175.2(NBEAL2): c.5413dupG (p.Ala1805Glyfs) duplication Pathogenic rs794726683 GRCh37 Chromosome 3, 47044246: 47044246
14 NBEAL2 NM_015175.2(NBEAL2): c.5413dupG (p.Ala1805Glyfs) duplication Pathogenic rs794726683 GRCh38 Chromosome 3, 47002756: 47002756
15 NBEAL2 NM_015175.2(NBEAL2): c.1340G> A (p.Arg447His) single nucleotide variant Benign rs17079425 GRCh37 Chromosome 3, 47036565: 47036565
16 NBEAL2 NM_015175.2(NBEAL2): c.1340G> A (p.Arg447His) single nucleotide variant Benign rs17079425 GRCh38 Chromosome 3, 46995075: 46995075
17 NBEAL2 NM_015175.2(NBEAL2): c.1353G> A (p.Pro451=) single nucleotide variant Benign rs115611407 GRCh37 Chromosome 3, 47036578: 47036578
18 NBEAL2 NM_015175.2(NBEAL2): c.1353G> A (p.Pro451=) single nucleotide variant Benign rs115611407 GRCh38 Chromosome 3, 46995088: 46995088
19 NBEAL2 NM_015175.2(NBEAL2): c.1531C> G (p.Arg511Gly) single nucleotide variant Benign rs11720139 GRCh37 Chromosome 3, 47036756: 47036756
20 NBEAL2 NM_015175.2(NBEAL2): c.1531C> G (p.Arg511Gly) single nucleotide variant Benign rs11720139 GRCh38 Chromosome 3, 46995266: 46995266
21 NBEAL2 NM_015175.2(NBEAL2): c.4704C> T (p.Asn1568=) single nucleotide variant Benign rs12489851 GRCh38 Chromosome 3, 47001748: 47001748
22 NBEAL2 NM_015175.2(NBEAL2): c.4704C> T (p.Asn1568=) single nucleotide variant Benign rs12489851 GRCh37 Chromosome 3, 47043238: 47043238
23 NBEAL2 NM_015175.2(NBEAL2): c.4911C> T (p.Ser1637=) single nucleotide variant Benign rs2305634 GRCh38 Chromosome 3, 47002048: 47002048
24 NBEAL2 NM_015175.2(NBEAL2): c.4911C> T (p.Ser1637=) single nucleotide variant Benign rs2305634 GRCh37 Chromosome 3, 47043538: 47043538
25 NBEAL2 NM_015175.2(NBEAL2): c.4995G> A (p.Val1665=) single nucleotide variant Benign rs2305635 GRCh38 Chromosome 3, 47002132: 47002132
26 NBEAL2 NM_015175.2(NBEAL2): c.4995G> A (p.Val1665=) single nucleotide variant Benign rs2305635 GRCh37 Chromosome 3, 47043622: 47043622
27 NBEAL2 NM_015175.2(NBEAL2): c.5302-13A> T single nucleotide variant Benign rs11928558 GRCh38 Chromosome 3, 47002632: 47002632
28 NBEAL2 NM_015175.2(NBEAL2): c.5302-13A> T single nucleotide variant Benign rs11928558 GRCh37 Chromosome 3, 47044122: 47044122
29 NBEAL2 NM_015175.2(NBEAL2): c.6054C> G (p.Pro2018=) single nucleotide variant Benign rs1079276 GRCh38 Chromosome 3, 47004249: 47004249
30 NBEAL2 NM_015175.2(NBEAL2): c.6054C> G (p.Pro2018=) single nucleotide variant Benign rs1079276 GRCh37 Chromosome 3, 47045739: 47045739
31 NBEAL2 NM_015175.2(NBEAL2): c.6161C> T (p.Ser2054Phe) single nucleotide variant Benign rs2305637 GRCh37 Chromosome 3, 47045846: 47045846
32 NBEAL2 NM_015175.2(NBEAL2): c.6161C> T (p.Ser2054Phe) single nucleotide variant Benign rs2305637 GRCh38 Chromosome 3, 47004356: 47004356
33 NBEAL2 NM_015175.2(NBEAL2): c.6919+9T> C single nucleotide variant Benign rs3816531 GRCh38 Chromosome 3, 47006072: 47006072
34 NBEAL2 NM_015175.2(NBEAL2): c.6919+9T> C single nucleotide variant Benign rs3816531 GRCh37 Chromosome 3, 47047562: 47047562
35 NBEAL2 NM_015175.2(NBEAL2): c.7507+6A> G single nucleotide variant Benign rs74418680 GRCh37 Chromosome 3, 47049193: 47049193
36 NBEAL2 NM_015175.2(NBEAL2): c.7507+6A> G single nucleotide variant Benign rs74418680 GRCh38 Chromosome 3, 47007703: 47007703
37 NBEAL2 NM_015175.2(NBEAL2): c.123C> G (p.Ser41=) single nucleotide variant Uncertain significance rs61734084 GRCh38 Chromosome 3, 46988740: 46988740
38 NBEAL2 NM_015175.2(NBEAL2): c.123C> G (p.Ser41=) single nucleotide variant Uncertain significance rs61734084 GRCh37 Chromosome 3, 47030230: 47030230
39 NBEAL2 NM_015175.2(NBEAL2): c.384C> G (p.Gly128=) single nucleotide variant Uncertain significance rs113523265 GRCh38 Chromosome 3, 46989292: 46989292
40 NBEAL2 NM_015175.2(NBEAL2): c.384C> G (p.Gly128=) single nucleotide variant Uncertain significance rs113523265 GRCh37 Chromosome 3, 47030782: 47030782
41 NBEAL2 NM_015175.2(NBEAL2): c.1212G> A (p.Glu404=) single nucleotide variant Uncertain significance rs769130047 GRCh38 Chromosome 3, 46994469: 46994469
42 NBEAL2 NM_015175.2(NBEAL2): c.1212G> A (p.Glu404=) single nucleotide variant Uncertain significance rs769130047 GRCh37 Chromosome 3, 47035959: 47035959
43 NBEAL2 NM_015175.2(NBEAL2): c.2375G> A (p.Arg792Gln) single nucleotide variant Uncertain significance rs140354422 GRCh38 Chromosome 3, 46996494: 46996494
44 NBEAL2 NM_015175.2(NBEAL2): c.2375G> A (p.Arg792Gln) single nucleotide variant Uncertain significance rs140354422 GRCh37 Chromosome 3, 47037984: 47037984
45 NBEAL2 NM_015175.2(NBEAL2): c.2445G> A (p.Ala815=) single nucleotide variant Likely benign rs116456978 GRCh37 Chromosome 3, 47038054: 47038054
46 NBEAL2 NM_015175.2(NBEAL2): c.2445G> A (p.Ala815=) single nucleotide variant Likely benign rs116456978 GRCh38 Chromosome 3, 46996564: 46996564
47 NBEAL2 NM_015175.2(NBEAL2): c.3108C> T (p.Ala1036=) single nucleotide variant Uncertain significance rs886058596 GRCh37 Chromosome 3, 47039706: 47039706
48 NBEAL2 NM_015175.2(NBEAL2): c.3108C> T (p.Ala1036=) single nucleotide variant Uncertain significance rs886058596 GRCh38 Chromosome 3, 46998216: 46998216
49 NBEAL2 NM_015175.2(NBEAL2): c.3414C> T (p.Ala1138=) single nucleotide variant Uncertain significance rs886058597 GRCh38 Chromosome 3, 46998988: 46998988
50 NBEAL2 NM_015175.2(NBEAL2): c.3414C> T (p.Ala1138=) single nucleotide variant Uncertain significance rs886058597 GRCh37 Chromosome 3, 47040478: 47040478

Expression for Gray Platelet Syndrome

Search GEO for disease gene expression data for Gray Platelet Syndrome.

Pathways for Gray Platelet Syndrome

Pathways related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 CD36 GATA1 GP5 GP6 GP9 MPIG6B
2 12.31 CD40LG GATA1 GFI1B PLCG2
3
Show member pathways
11.94 CD36 GP5 GP6 GP9 VWF
4
Show member pathways
11.91 GP5 GP6 GP9 VWF
5
Show member pathways
11.88 GP6 MPIG6B PLCG2
6 11.84 CD40LG CLDN5 SELP
7 11.74 GP5 GP6 GP9 PLCG2 VWF
8
Show member pathways
11.64 GP5 GP9 VWF
9 11.62 CD36 GP5 GP9
10 11.3 CD36 CD40LG SELP
11 10.81 CD36 GP5 GP6 GP9 PLCG2 VWF
12 10.5 GP5 GP9 VWF
13 10.37 GP5 GP6 GP9 VWF

GO Terms for Gray Platelet Syndrome

Cellular components related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 CD36 CD40LG CLDN5 GP5 GP6 GP9
2 cell surface GO:0009986 9.65 CD36 CD40LG GP6 SPARC TREML1
3 platelet alpha granule membrane GO:0031092 9.13 CD36 SELP SPARC
4 platelet alpha granule GO:0031091 8.8 SPARC TREML1 VWF

Biological processes related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 CD36 GP5 GP9 SELP VWF
2 platelet degranulation GO:0002576 9.67 CD36 SELP SPARC VWF
3 platelet formation GO:0030220 9.5 GATA1 MPIG6B NBEAL2
4 blood coagulation GO:0007596 9.5 CD36 GATA1 GP5 GP6 GP9 MPIG6B
5 leukocyte cell-cell adhesion GO:0007159 9.48 CD40LG SELP
6 positive regulation of interleukin-12 production GO:0032735 9.46 CD36 CD40LG
7 hemostasis GO:0007599 9.46 GP5 GP6 GP9 VWF
8 blood coagulation, intrinsic pathway GO:0007597 9.43 GP5 GP9 VWF
9 megakaryocyte differentiation GO:0030219 9.4 GATA1 MPIG6B
10 platelet activation GO:0030168 9.23 CD40LG GP5 GP6 GP9 MPIG6B PLCG2

Molecular functions related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.8 GP6 SPARC VWF

Sources for Gray Platelet Syndrome

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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