GPS
MCID: GRY002
MIFTS: 59

Gray Platelet Syndrome (GPS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Gray Platelet Syndrome

MalaCards integrated aliases for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 56 12 74 52 25 58 73 36 29 13 54 6 43 15 39 71
Platelet Alpha-Granule Deficiency 56 12 52 25 58 73 71
Gps 56 12 52 25 58 73
Bdplt4 56 12 25 73
Bleeding Disorder, Platelet-Type, 4 56 25
Grey Platelet Syndrome 25 73
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 52
Bleeding Disorder, Platelet-Type, 4; Bdplt4 56
Platelet-Type Bleeding Disorder 4 12
Platelet Alpha Granule Deficiency 25
Bleeding Disorder Platelet-Type 4 73
Deficient Alpha Granule Syndrome 25
Alpha Storage Pool Deficiency 58
Platelet Granule Defect 25

Characteristics:

Orphanet epidemiological data:

58
gray platelet syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
gray platelet syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111044
OMIM 56 139090
OMIM Phenotypic Series 56 PS231200
KEGG 36 H02097
MeSH 43 D055652
NCIt 49 C84741
SNOMED-CT 67 51720005
ICD10 32 D69.1
MESH via Orphanet 44 D055652
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 72 C0272302 C2717750
Orphanet 58 ORPHA721
MedGen 41 C0272302
UMLS 71 C0272302 C2717750

Summaries for Gray Platelet Syndrome

Genetics Home Reference : 25 Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells 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. A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).

MalaCards based summary : Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bleeding disorder, platelet-type, 11 and glanzmann thrombasthenia. 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 bone, bone marrow and spleen, and related phenotypes are thrombocytopenia and bruising susceptibility

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.

NIH Rare Diseases : 52 Gray platelet syndrome (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.

OMIM : 56 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)

KEGG : 36 Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 619)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 11 33.5 PLCG2 GP6 CD36
2 glanzmann thrombasthenia 33.3 VWF SELP GP9
3 pseudo-von willebrand disease 32.6 VWF GP9 GP6 GATA1
4 bernard-soulier syndrome 32.3 VWF SELP GP9 GP6 GP5
5 thrombasthenia 31.1 SELP GP9 CD36
6 myelofibrosis 31.0 SELP MPIG6B GATA1 CD40LG
7 blood platelet disease 30.8 VWF SELP GP9 GP6 GP5 CD40LG
8 coronary thrombosis 30.6 VWF SELP GP6
9 storage pool platelet disease 30.5 GFI1B BLOC1S1
10 antiphospholipid syndrome 30.5 VWF SELP CD40LG
11 thrombocytopenia with beta-thalassemia, x-linked 30.5 VPS33B NBEAL2 GP9 GP6 GATA1
12 thrombocytopenia due to platelet alloimmunization 30.4 SELP GP9 CD40LG
13 pulmonary embolism 30.4 VWF GP6 CD40LG
14 hemorrhagic disease 30.3 VWF GP6 CD40LG
15 thrombocytopenic purpura, autoimmune 30.3 SELP GP6 GP5 CD40LG
16 thrombosis 30.3 VWF SELP GP6 CD40LG
17 carotid artery thrombosis 30.2 VWF SELP GP6
18 thrombophilia 30.1 VWF SELP CD40LG
19 von willebrand's disease 30.0 VWF SELP GP9 GP6
20 thrombocytopenia 29.7 VWF SPARC SELP PLCG2 NBEAL2 MPIG6B
21 genitopatellar syndrome 12.3
22 bleeding disorder, platelet-type, 17 11.6
23 ohdo syndrome, sbbys variant 11.5
24 bleeding disorder, platelet-type, 9 11.4
25 goodpasture syndrome 11.2
26 pemphigoid gestationis 11.2
27 platelet aggregation, spontaneous 10.5 VWF SELP
28 marantic endocarditis 10.5 VWF SELP
29 cervical adenosarcoma 10.5 GP6 GP5
30 inverted follicular keratosis 10.5 GP6 GP5
31 intracranial thrombosis 10.5 VWF SELP GP6
32 thrombophlebitis 10.5 VWF SELP CD40LG
33 pulmonary artery disease 10.5 VWF SELP CD40LG
34 focal epithelial hyperplasia 10.5 GP6 GP5
35 intermittent claudication 10.5 VWF SELP CD40LG
36 vein disease 10.5 VWF SELP CD40LG
37 myh-9 related disease 10.5 GP9 GFI1B
38 thrombotic thrombocytopenic purpura 10.4 VWF SELP CD40LG
39 chronic cervicitis 10.4 GP6 GP5
40 splenic sequestration 10.4 VWF CD40LG
41 interstitial keratitis 10.4 CD40LG CD36
42 herpangina 10.4 GP6 GP5 CD40LG
43 rectal disease 10.4 GP6 GP5 CD40LG
44 hemolytic-uremic syndrome 10.4 VWF SELP CD40LG
45 maxillary sinusitis 10.4 SELP CD40LG
46 chancroid 10.4 CD40LG CD36
47 dementia 10.4
48 disease of mental health 10.4
49 essential thrombocythemia 10.4 VWF SELP GATA1 CD40LG
50 african tick-bite fever 10.3 VWF 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

Human phenotypes related to Gray Platelet Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
2 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
3 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
4 myelodysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002863
5 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
6 abnormality of the menstrual cycle 58 31 frequent (33%) Frequent (79-30%) HP:0000140
7 abnormality of thrombocytes 58 Very frequent (99-80%)
8 prolonged bleeding time 31 HP:0003010
9 abnormal bleeding 58 Very frequent (99-80%)
10 myelofibrosis 31 HP:0011974
11 menorrhagia 31 HP:0000132
12 impaired thrombin-induced platelet aggregation 31 HP:0011872
13 reduced von willebrand factor activity 31 HP:0008330
14 impaired collagen-induced platelet aggregation 31 HP:0008320
15 reduced quantity of von willebrand factor 31 HP:0012147

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
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
myelofibrosis
menorrhagia
easy bruisability
more

Clinical features from OMIM:

139090

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 CD36 CD40LG GATA1 GFI1B GP6 GP9
2 homeostasis/metabolism MP:0005376 10.2 BLOC1S1 CD36 CD40LG GATA1 GFI1B GP5
3 cellular MP:0005384 10.14 BLOC1S1 CD36 CD40LG GATA1 GFI1B MASTL
4 immune system MP:0005387 10.07 CD36 CD40LG GATA1 GFI1B GP6 MPIG6B
5 integument MP:0010771 9.81 CD40LG GATA1 GFI1B GP6 PLCG2 SELP
6 mortality/aging MP:0010768 9.77 BLOC1S1 CD36 CD40LG CLDN5 GATA1 GFI1B
7 skeleton MP:0005390 9.32 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 Investigations 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:

40
Bone, Bone Marrow, Spleen, Neutrophil, Brain, Nk Cells, Endothelial

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

(show top 50) (show all 182)
# Title Authors PMID Year
1
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 61 56 6
21765411 2011
2
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 61 56 6
21765412 2011
3
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 56 6 61
21765413 2011
4
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. 56 61
20709904 2010
5
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. 56 61
18612537 2008
6
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. 61 56
15010364 2004
7
Newly recognized cellular abnormalities in the gray platelet syndrome. 61 56
11520786 2001
8
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. 61 56
8192152 1994
9
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. 56 61
7504696 1993
10
Gray platelet syndrome in the elderly. 61 56
3414674 1988
11
Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. 61 56
3877532 1985
12
Electron microscopic and functional studies on platelets in gray platelet syndrome. 61 56
6484975 1984
13
Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. 56 61
6460535 1982
14
Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules. 56 61
6156948 1980
15
Ultrastructural studies of the gray platelet syndrome. 61 56
453324 1979
16
Gray platelet syndrome. A variety of qualitative platelet disorder. 56 61
5129551 1971
17
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 6
28041820 2017
18
GFI1B mutation causes a bleeding disorder with abnormal platelet function. 6
23927492 2013
19
Inherited thrombocytopenias. 56
17768118 2007
20
Inherited abnormalities of the platelet membrane and secretory granules. 56
3542800 1987
21
Studies of platelets from patients with the grey platelet syndrome. 56
3986134 1985
22
Hereditary thrombocytopathy: a familial bleeding disorder due to impaired platelet coagulant activity. 6
1065298 1976
23
A syndrome of platelet-release abnormality and mild hemophilia. 56
4545510 1974
24
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. 56
4537881 1972
25
Familial thrombopathic thrombocytopenia. 6
5681484 1968
26
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. 54 61
17209061 2007
27
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). 54 61
9042822 1997
28
Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. 54 61
8608228 1996
29
Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes. 61 54
7693034 1993
30
Localization of platelet osteonectin at the internal face of the alpha-granule membranes in platelets and megakaryocytes. 61 54
1737102 1992
31
Osteonectin is an alpha-granule component involved with thrombospondin in platelet aggregation. 61 54
1796754 1991
32
Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation. 61
31502501 2020
33
The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. 61
32384141 2020
34
Gray platelet syndrome: Management of perioperative bleeding in redo cardiac surgery. 61
31710726 2020
35
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. 61
31228350 2019
36
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. 61
31171812 2019
37
Striking emperipolesis in megakaryocytes of gray platelet syndrome. 61
31248876 2019
38
Idiopathic Purpura With Gray Platelets: an Acquired Form of Gray Platelet Syndrome. 61
30334901 2019
39
Platelet α-granules modulate the inflammatory response under systemic lipopolysaccharide injection in mice. 61
30394544 2019
40
Sorting machineries: how platelet-dense granules differ from α-granules. 61
30104399 2018
41
NBEAL2 mutations and bleeding in patients with gray platelet syndrome. 61
29869935 2018
42
Platelet Releasate Proteome Profiling Reveals a Core Set of Proteins with Low Variance between Healthy Adults. 61
29932309 2018
43
Nbeal2 Deficiency Increases Organ Damage but Does Not Affect Host Defense During Gram-Negative Pneumonia-Derived Sepsis. 61
29930006 2018
44
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. 61
29903870 2018
45
A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome. 61
28504079 2018
46
Nbeal2 interacts with Dock7, Sec16a, and Vac14. 61
29187380 2018
47
The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis. 61
28887433 2017
48
NBEAL2 is required for neutrophil and NK cell function and pathogen defense. 61
28783043 2017
49
A case of adult-onset Still's disease accompanied by pseudo-gray platelet syndrome. 61
29043244 2017
50
Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. 61
28457011 2017

Variations for Gray Platelet Syndrome

ClinVar genetic disease variations for Gray Platelet Syndrome:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBEAL2 NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter)SNV Pathogenic 435927 rs1553659758 3:47037018-47037018 3:46995528-46995528
2 NBEAL2 NM_015175.2(NBEAL2):c.4081G>T (p.Glu1361Ter)SNV Pathogenic 435928 rs1553663498 3:47041670-47041670 3:47000180-47000180
3 NBEAL2 NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter)SNV Pathogenic 627372 3:47049067-47049067 3:47007577-47007577
4 NBEAL2 NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)deletion Pathogenic 812962 3:47046681-47046681 3:47005191-47005191
5 NBEAL2 NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter)SNV Pathogenic 31116 rs387907112 3:47038800-47038800 3:46997310-46997310
6 NBEAL2 NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter)SNV Pathogenic 31117 rs372277612 3:47033134-47033134 3:46991644-46991644
7 NBEAL2 NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro)SNV Pathogenic 31118 rs387907113 3:47035476-47035476 3:46993986-46993986
8 NBEAL2 NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val)SNV Pathogenic 31119 rs387907114 3:47037233-47037233 3:46995743-46995743
9 NBEAL2 NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu)SNV Pathogenic 31120 rs387907115 3:47046466-47046466 3:47004976-47004976
10 NBEAL2 NM_001365116.2(NBEAL2):c.1721G>A (p.Trp574Ter)SNV Pathogenic 31121 rs794726682 3:47037048-47037048 3:46995558-46995558
11 NBEAL2 NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs)duplication Pathogenic 31122 rs794726683 3:47044240-47044241 3:47002750-47002751
12 NBEAL2 NM_015175.3(NBEAL2):c.7225-1G>CSNV Likely pathogenic 804437 3:47048730-47048730 3:47007240-47007240
13 NBEAL2 NM_015175.3(NBEAL2):c.3118+2T>GSNV Likely pathogenic 812961 3:47039718-47039718 3:46998228-46998228
14 NBEAL2 NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)SNV Likely pathogenic 812963 3:47047694-47047694 3:47006204-47006204
15 NBEAL2 NM_015175.2(NBEAL2):c.607dup (p.Ile203fs)duplication Likely pathogenic 627345 3:47032758-47032759 3:46991268-46991269
16 NBEAL2 NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter)SNV Likely pathogenic 627258 3:47037014-47037014 3:46995524-46995524
17 NBEAL2 NM_015175.2(NBEAL2):c.1860del (p.Ala621fs)deletion Likely pathogenic 627267 3:47037085-47037085 3:46995595-46995595
18 NBEAL2 NM_015175.2(NBEAL2):c.2537T>C (p.Leu846Pro)SNV Likely pathogenic 627286 3:47038304-47038304 3:46996814-46996814
19 NBEAL2 NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr)SNV Likely pathogenic 627099 3:47045362-47045362 3:47003872-47003872
20 NBEAL2 NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln)SNV Likely pathogenic 627106 3:47046526-47046526 3:47005036-47005036
21 NBEAL2 NM_015175.2(NBEAL2):c.6460T>C (p.Phe2154Leu)SNV Likely pathogenic 627111 3:47046711-47046711 3:47005221-47005221
22 NBEAL2 NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=)SNV Conflicting interpretations of pathogenicity 774419 3:47036860-47036860 3:46995370-46995370
23 NBEAL2 NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=)SNV Conflicting interpretations of pathogenicity 745021 3:47041618-47041618 3:47000128-47000128
24 NBEAL2 NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg)SNV Conflicting interpretations of pathogenicity 780875 3:47050775-47050775 3:47009285-47009285
25 NBEAL2 NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)SNV Conflicting interpretations of pathogenicity 733336 3:47030865-47030865 3:46989375-46989375
26 NBEAL2 NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu)SNV Conflicting interpretations of pathogenicity 287460 rs144664865 3:47049615-47049615 3:47008125-47008125
27 NBEAL2 NM_015175.2(NBEAL2):c.474-4C>TSNV Conflicting interpretations of pathogenicity 345616 rs375726193 3:47030997-47030997 3:46989507-46989507
28 NBEAL2 NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg)SNV Conflicting interpretations of pathogenicity 345632 rs201373710 3:47037253-47037253 3:46995763-46995763
29 NBEAL2 NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=)SNV Conflicting interpretations of pathogenicity 345676 rs200100160 3:47045354-47045354 3:47003864-47003864
30 NBEAL2 NM_015175.2(NBEAL2):c.4485-8C>TSNV Conflicting interpretations of pathogenicity 435926 rs145760682 3:47042761-47042761 3:47001271-47001271
31 NBEAL2 NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser)SNV Uncertain significance 345673 rs373627201 3:47044189-47044189 3:47002699-47002699
32 NBEAL2 NM_015175.2(NBEAL2):c.-162C>TSNV Uncertain significance 345608 rs886058587 3:47021190-47021190 3:46979700-46979700
33 NBEAL2 NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val)SNV Uncertain significance 345620 rs886058593 3:47033160-47033160 3:46991670-46991670
34 NBEAL2 NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala)SNV Uncertain significance 345622 rs769842468 3:47034013-47034013 3:46992523-46992523
35 NBEAL2 NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met)SNV Uncertain significance 345642 rs577957158 3:47038253-47038253 3:46996763-46996763
36 NBEAL2 NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile)SNV Uncertain significance 345651 rs373596976 3:47039969-47039969 3:46998479-46998479
37 NBEAL2 NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln)SNV Uncertain significance 345652 rs374012992 3:47040293-47040293 3:46998803-46998803
38 NBEAL2 NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp)SNV Uncertain significance 345656 rs769438781 3:47040868-47040868 3:46999378-46999378
39 NBEAL2 NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=)SNV Uncertain significance 345671 rs370969690 3:47043986-47043986 3:47002496-47002496
40 NBEAL2 NM_015175.2(NBEAL2):c.5459+8G>ASNV Uncertain significance 345675 rs747932446 3:47044300-47044300 3:47002810-47002810
41 NBEAL2 NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His)SNV Uncertain significance 345678 rs886058601 3:47045830-47045830 3:47004340-47004340
42 NBEAL2 NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg)SNV Uncertain significance 345680 rs886058602 3:47046571-47046571 3:47005081-47005081
43 NBEAL2 NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His)SNV Uncertain significance 345693 rs376357238 3:47050547-47050547 3:47009057-47009057
44 NBEAL2 NM_015175.2(NBEAL2):c.8164-3C>GSNV Uncertain significance 345694 rs886058606 3:47050706-47050706 3:47009216-47009216
45 NBEAL2 NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His)SNV Uncertain significance 345629 rs368310677 3:47036838-47036838 3:46995348-46995348
46 NBEAL2 NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met)SNV Uncertain significance 345634 rs376623029 3:47037804-47037804 3:46996314-46996314
47 NBEAL2 NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=)SNV Uncertain significance 345690 rs568006584 3:47049087-47049087 3:47007597-47007597
48 NBEAL2 NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr)SNV Uncertain significance 345692 rs778429939 3:47049789-47049789 3:47008299-47008299
49 NBEAL2 NM_015175.2(NBEAL2):c.*37C>GSNV Uncertain significance 345695 rs886058607 3:47050847-47050847 3:47009357-47009357
50 NBEAL2 NM_015175.2(NBEAL2):c.*155C>ASNV Uncertain significance 345699 rs886058609 3:47050965-47050965 3:47009475-47009475

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

73
# 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 rs134102014
5 NBEAL2 p.Arg1839Cys VAR_066981 rs750160418
6 NBEAL2 p.Pro2100Leu VAR_066982 rs387907115
7 NBEAL2 p.His2263Tyr VAR_066983 rs135706711
8 NBEAL2 p.Ser2269Leu VAR_066984 rs749896920

Expression for Gray Platelet Syndrome

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

Pathways for Gray Platelet Syndrome

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 9.97 TREML1 SPARC SELP PLCG2 NBEAL2 MPIG6B
2 cell surface GO:0009986 9.65 TREML1 SPARC GP6 CD40LG CD36
3 platelet alpha granule membrane GO:0031092 9.13 SPARC SELP CD36
4 platelet alpha granule GO:0031091 8.92 VWF VPS33B TREML1 SPARC

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 9.88 VWF SELP GP9 GP5 CLDN5 CD36
2 platelet degranulation GO:0002576 9.67 VWF SPARC SELP CD36
3 B cell differentiation GO:0030183 9.63 PLCG2 GPS2 CD40LG
4 platelet formation GO:0030220 9.5 NBEAL2 MPIG6B GATA1
5 blood coagulation GO:0007596 9.5 VWF MPIG6B GP9 GP6 GP5 GATA1
6 hemostasis GO:0007599 9.46 VWF GP9 GP6 GP5
7 megakaryocyte differentiation GO:0030219 9.43 MPIG6B GATA1
8 blood coagulation, intrinsic pathway GO:0007597 9.43 VWF GP9 GP5
9 platelet activation GO:0030168 9.23 VWF TREML1 PLCG2 MPIG6B GP9 GP6

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 VWF VPS33B SPARC SELP PLCG2 NBEAL2
2 collagen binding GO:0005518 9.13 VWF SPARC GP6

Sources for Gray Platelet Syndrome

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
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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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