GPS
MCID: GRY002
MIFTS: 57

Gray Platelet Syndrome (GPS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Gray Platelet Syndrome

MalaCards integrated aliases for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 57 11 19 42 58 75 73 28 53 5 43 14 38 71
Platelet Alpha-Granule Deficiency 57 11 19 42 58 73 71
Gps 57 11 19 42 58 73
Bdplt4 57 11 42 73
Bleeding Disorder, Platelet-Type, 4 57 42
Grey Platelet Syndrome 42 73
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 19
Platelet-Type Bleeding Disorder 4 11
Platelet Alpha Granule Deficiency 42
Bleeding Disorder Platelet-Type 4 73
Deficient Alpha Granule Syndrome 42
Alpha Storage Pool Deficiency 58
Platelet Granule Defect 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal recessive 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
onset of bleeding in infancy or early childhood


HPO:

30
gray platelet syndrome:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0111044
OMIM® 57 139090
OMIM Phenotypic Series 57 PS231200
MeSH 43 D055652
NCIt 49 C84741
SNOMED-CT 68 51720005
ICD10 31 D69.1
MESH via Orphanet 44 D055652
ICD10 via Orphanet 32 D69.1
UMLS via Orphanet 72 C0272302 C2717750
Orphanet 58 ORPHA721
MedGen 40 C0272302
UMLS 71 C0272302 C2717750

Summaries for Gray Platelet Syndrome

MedlinePlus Genetics: 42 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, 17 and qualitative platelet defect. 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 Defects of contact activation system (CAS) and kallikrein/kinin system (KKS). Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are thrombocytopenia and bruising susceptibility

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) (Updated 08-Dec-2022)

GARD: 19 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 genetic changes in the NBEAL2 gene and inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A blood platelet 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.

Orphanet: 58 Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.

Wikipedia: 75 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 508)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 17 32.2 NBEAL2 GFI1B
2 qualitative platelet defect 30.8 VWF SELP ITGA2B
3 bernard-soulier syndrome 30.6 VWF SELP NBEAL2 ITGA2B GP9 GP6
4 storage pool platelet disease 30.3 GFI1B BLOC1S1
5 purpura 30.2 VWF SELP ITGA2B
6 thrombocytopenic purpura, autoimmune 30.2 SELP ITGA2B GP6
7 thrombocytopenia with beta-thalassemia, x-linked 30.2 VIPAS39 NBEAL2 GP6 GATA1
8 hemorrhagic disease 29.8 VWF ITGA2B GP6
9 thrombocytopenia due to platelet alloimmunization 29.7 VWF SELP ITGA2B GP9 GP5
10 thrombotic thrombocytopenic purpura 29.6 VWF SELP CD36
11 blood platelet disease 29.5 VWF SELP NBEAL2 ITGA2B GP9 GP6
12 arthrogryposis, renal dysfunction, and cholestasis 1 29.3 VPS33B VIPAS39 NBEAL2 BLOC1S1
13 stroke, ischemic 29.3 VWF SELP GP6 CD36
14 thrombocytopenia 27.8 VWF SPARC SELP PLCG2 NBEAL2 MPIG6B
15 genitopatellar syndrome 11.5
16 goodpasture syndrome 11.0
17 myelofibrosis 10.5
18 dementia 10.4
19 splenomegaly 10.4
20 neurodegeneration with brain iron accumulation 2a 10.3
21 fanconi anemia, complementation group e 10.3
22 platelet aggregation, spontaneous 10.3 VWF SELP
23 acquired von willebrand syndrome 10.2 VWF GP6
24 inverted follicular keratosis 10.2 GP6 GP5
25 middle ear squamous cell carcinoma 10.2 GP6 GP5
26 penis basal cell carcinoma 10.2 GP6 GP5
27 masa syndrome 10.2
28 pulmonary disease, chronic obstructive 10.2
29 urinary tract infection 10.2
30 back pain 10.2
31 post-thrombotic syndrome 10.2 VWF SELP
32 myh-9 related disease 10.2 NBEAL2 GP9 GFI1B
33 parkinson disease, late-onset 10.2
34 headache 10.2
35 jacobsen syndrome 10.2 NBEAL2 GP9 GFI1B
36 focal epithelial hyperplasia 10.2 GP6 GP5
37 ceroid lipofuscinosis, neuronal, 5 10.2
38 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
39 immunodeficiency, common variable, 10 10.2
40 children's interstitial lung disease 10.2
41 cervical adenosarcoma 10.2 GP6 GP5
42 chronic cervicitis 10.1 GP6 GP5
43 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
44 thrombocytopenia 1 10.1
45 thalassemia 10.1
46 von willebrand disease, type 3 10.1 VWF GP6
47 major depressive disorder 10.1
48 sexual health disorder 10.1
49 disease of mental health 10.1
50 personality disorder 10.1

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 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001873
2 bruising susceptibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000978
3 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001744
4 myelodysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002863
5 epistaxis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000421
6 abnormality of the menstrual cycle 58 30 Frequent (33%) Frequent (79-30%)
HP:0000140
7 abnormality of thrombocytes 58 Very frequent (99-80%)
8 prolonged bleeding time 30 HP:0003010
9 abnormal bleeding 58 Very frequent (99-80%)
10 myelofibrosis 30 HP:0011974
11 menorrhagia 30 HP:0000132
12 impaired thrombin-induced platelet aggregation 30 HP:0011872
13 reduced von willebrand factor activity 30 HP:0008330
14 impaired collagen-induced platelet aggregation 30 HP:0008320
15 reduced quantity of von willebrand factor 30 HP:0012147
16 abnormal number of alpha granules 30 HP:0012528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 BLOC1S1 CD36 GATA1 GFI1B GP5 GP6
2 immune system MP:0005387 10.2 CD36 GATA1 GFI1B GP6 GP9 ITGA2B
3 cellular MP:0005384 10.15 BLOC1S1 CD36 GATA1 GFI1B ITGA2B LYST
4 skeleton MP:0005390 10.03 CD36 GATA1 GP6 ITGA2B MPIG6B NBEAL2
5 hematopoietic system MP:0005397 10.03 CD36 GATA1 GFI1B GP6 GP9 ITGA2B
6 mortality/aging MP:0010768 9.77 BLOC1S1 CD36 CLDN5 GATA1 GFI1B GP6
7 integument MP:0010771 9.4 CD36 GATA1 GFI1B GP6 ITGA2B LYST

Drugs & Therapeutics for Gray Platelet Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Gray Platelet Syndrome Completed NCT00069680

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 28 NBEAL2

Anatomical Context for Gray Platelet Syndrome

Organs/tissues related to Gray Platelet Syndrome:

MalaCards : Bone Marrow, Bone, Spleen, Smooth Muscle, Neutrophil, Endothelial, Brain
ODiseA: Blood And Bone Marrow

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

(show top 50) (show all 228)
# Title Authors PMID Year
1
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 62 57 5
21765412 2011
2
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 62 57 5
21765411 2011
3
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 62 57 5
21765413 2011
4
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. 62 5
32693407 2020
5
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. 62 57
20709904 2010
6
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. 62 57
18612537 2008
7
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. 62 57
15010364 2004
8
Newly recognized cellular abnormalities in the gray platelet syndrome. 62 57
11520786 2001
9
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. 62 57
8192152 1994
10
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. 62 57
7504696 1993
11
Gray platelet syndrome in the elderly. 62 57
3414674 1988
12
Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. 62 57
3877532 1985
13
Studies of platelets from patients with the grey platelet syndrome. 62 57
3986134 1985
14
Electron microscopic and functional studies on platelets in gray platelet syndrome. 62 57
6484975 1984
15
Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. 62 57
6460535 1982
16
Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules. 62 57
6156948 1980
17
Ultrastructural studies of the gray platelet syndrome. 62 57
453324 1979
18
Gray platelet syndrome. A variety of qualitative platelet disorder. 62 57
5129551 1971
19
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
20
Inherited thrombocytopenias. 57
17768118 2007
21
Inherited abnormalities of the platelet membrane and secretory granules. 57
3542800 1987
22
A syndrome of platelet-release abnormality and mild hemophilia. 57
4545510 1974
23
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. 57
4537881 1972
24
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. 53 62
17209061 2007
25
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). 53 62
9042822 1997
26
Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. 53 62
8608228 1996
27
Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes. 53 62
7693034 1993
28
Localization of platelet osteonectin at the internal face of the alpha-granule membranes in platelets and megakaryocytes. 53 62
1737102 1992
29
Osteonectin is an alpha-granule component involved with thrombospondin in platelet aggregation. 53 62
1796754 1991
30
Gray platelet syndrome, more than just a bleeding disorder. 62
35953383 2022
31
Gray Platelet Syndrome with Severe Thrombocytopenia: A Novel NBEAL2 Gene Variant from India. 62
36258725 2022
32
Thrombocytopenia in a child with polyarthritis: A pointer to gray platelet syndrome. 62
35925939 2022
33
Screening platelet function in blood donors. 62
35748562 2022
34
Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome. 62
33054111 2021
35
Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient. 62
34237592 2021
36
Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis. 62
33586768 2021
37
Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. 62
33300270 2021
38
Neutrophil specific granule and NETosis defects in gray platelet syndrome. 62
33496751 2021
39
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation. 62
34408521 2021
40
Acquired Gray Platelet Syndrome Associated with Primary Myelofibrosis. 62
32641652 2020
41
Gray platelet syndrome: immunity goes awry. 62
33091137 2020
42
A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies. 62
33274150 2020
43
The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. 62
32384141 2020
44
Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation. 62
31502501 2020
45
Zebrafish for thrombocytopoiesis- and hemostasis-related researches and disorders. 62
35402814 2020
46
Gray platelet syndrome: Management of perioperative bleeding in redo cardiac surgery. 62
31710726 2020
47
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. 62
31228350 2019
48
Striking emperipolesis in megakaryocytes of gray platelet syndrome. 62
31248876 2019
49
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. 62
31171812 2019
50
Binding of Coagulation Factor XIII Zymogen to Activated Platelet Subpopulations: Roles of Integrin αIIbβ3 and Fibrinogen. 62
30934104 2019

Variations for Gray Platelet Syndrome

ClinVar genetic disease variations for Gray Platelet Syndrome:

5 (show top 50) (show all 271)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBEAL2 NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter) SNV Pathogenic
31116 rs387907112 GRCh37: 3:47038800-47038800
GRCh38: 3:46997310-46997310
2 NBEAL2 NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) SNV Pathogenic
31118 rs387907113 GRCh37: 3:47035476-47035476
GRCh38: 3:46993986-46993986
3 NBEAL2 NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) SNV Pathogenic
31119 rs387907114 GRCh37: 3:47037233-47037233
GRCh38: 3:46995743-46995743
4 NBEAL2 NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) SNV Pathogenic
31120 rs387907115 GRCh37: 3:47046466-47046466
GRCh38: 3:47004976-47004976
5 NBEAL2 NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) SNV Pathogenic
31121 rs794726682 GRCh37: 3:47037048-47037048
GRCh38: 3:46995558-46995558
6 NBEAL2 NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) DUP Pathogenic
31122 rs794726683 GRCh37: 3:47044240-47044241
GRCh38: 3:47002750-47002751
7 NBEAL2 NM_015175.3(NBEAL2):c.3118+2T>G SNV Pathogenic
812961 rs1349443190 GRCh37: 3:47039718-47039718
GRCh38: 3:46998228-46998228
8 NBEAL2 NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) DEL Pathogenic
812962 rs1575623114 GRCh37: 3:47046681-47046681
GRCh38: 3:47005191-47005191
9 NBEAL2 NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) SNV Pathogenic
627258 rs1172581672 GRCh37: 3:47037014-47037014
GRCh38: 3:46995524-46995524
10 NBEAL2 NM_015175.3(NBEAL2):c.607dup (p.Ile203fs) DUP Pathogenic
627345 rs1575592157 GRCh37: 3:47032758-47032759
GRCh38: 3:46991268-46991269
11 NBEAL2 NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) SNV Pathogenic
627372 rs1575629721 GRCh37: 3:47049067-47049067
GRCh38: 3:47007577-47007577
12 NBEAL2 NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) DUP Pathogenic
982270 rs2036418481 GRCh37: 3:47036949-47036950
GRCh38: 3:46995459-46995460
13 NBEAL2 NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) DUP Pathogenic
982272 rs2036579205 GRCh37: 3:47038849-47038850
GRCh38: 3:46997359-46997360
14 NBEAL2 NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) DUP Pathogenic
982276 rs2037501401 GRCh37: 3:47048609-47048610
GRCh38: 3:47007119-47007120
15 NBEAL2 NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) DEL Pathogenic
982278 rs2037558268 GRCh37: 3:47049185-47049185
GRCh38: 3:47007695-47007695
16 NBEAL2 NM_015175.3(NBEAL2):c.6920-1G>C SNV Pathogenic
982279 rs2037428827 GRCh37: 3:47047654-47047654
GRCh38: 3:47006164-47006164
17 NBEAL2 NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) DEL Pathogenic
982280 rs2037363765 GRCh37: 3:47046986-47046986
GRCh38: 3:47005496-47005496
18 NBEAL2 NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) DEL Pathogenic
982274 rs2037048154 GRCh37: 3:47043555-47043556
GRCh38: 3:47002065-47002066
19 NBEAL2 NM_015175.3(NBEAL2):c.2650-1G>A SNV Pathogenic
982286 rs2036570687 GRCh37: 3:47038748-47038748
GRCh38: 3:46997258-46997258
20 NBEAL2 NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) MICROSAT Pathogenic
982290 rs781366964 GRCh37: 3:47036694-47036695
GRCh38: 3:46995204-46995205
21 NBEAL2 NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs) DUP Pathogenic
1300139 GRCh37: 3:47044458-47044459
GRCh38: 3:47002968-47002969
22 NBEAL2 NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) DEL Pathogenic
982277 rs2037042664 GRCh37: 3:47043514-47043514
GRCh38: 3:47002024-47002024
23 NBEAL2 NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) SNV Pathogenic
435928 rs1553663498 GRCh37: 3:47041670-47041670
GRCh38: 3:47000180-47000180
24 NBEAL2 NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) SNV Pathogenic
435927 rs1553659758 GRCh37: 3:47037018-47037018
GRCh38: 3:46995528-46995528
25 NBEAL2 NM_015175.3(NBEAL2):c.4485-1G>T SNV Pathogenic
982282 rs763842878 GRCh37: 3:47042768-47042768
GRCh38: 3:47001278-47001278
26 NBEAL2 NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) SNV Pathogenic
31117 rs372277612 GRCh37: 3:47033134-47033134
GRCh38: 3:46991644-46991644
27 NBEAL2 NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr) SNV Likely Pathogenic
1703782 GRCh37: 3:47047511-47047511
GRCh38: 3:47006021-47006021
28 NBEAL2 NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs) MICROSAT Likely Pathogenic
1705844 GRCh37: 3:47042545-47042546
GRCh38: 3:47001055-47001056
29 NBEAL2 NM_015175.2(NBEAL2):c.6920delG DEL Likely Pathogenic
1684441 GRCh37: 3:47047654-47047654
GRCh38: 3:47006164-47006164
30 NBEAL2 NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) DEL Likely Pathogenic
1185026 GRCh37: 3:47048790-47048790
GRCh38: 3:47007300-47007300
31 NBEAL2 NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser) SNV Likely Pathogenic
1684434 GRCh37: 3:47047527-47047527
GRCh38: 3:47006037-47006037
32 NBEAL2 NM_015175.3(NBEAL2):c.1376del (p.Leu459fs) DEL Likely Pathogenic
1684437 GRCh37: 3:47036601-47036601
GRCh38: 3:46995111-46995111
33 NBEAL2 NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) DEL Likely Pathogenic
627267 rs1235183015 GRCh37: 3:47037085-47037085
GRCh38: 3:46995595-46995595
34 NBEAL2 NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) SNV Likely Pathogenic
982289 rs2037417315 GRCh37: 3:47047528-47047528
GRCh38: 3:47006038-47006038
35 NBEAL2 NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) SNV Likely Pathogenic
1339259 GRCh37: 3:47037541-47037541
GRCh38: 3:46996051-46996051
36 NBEAL2 NM_015175.3(NBEAL2):c.7103dup (p.His2368fs) DUP Likely Pathogenic
1684440 GRCh37: 3:47047907-47047908
GRCh38: 3:47006417-47006418
37 NBEAL2 NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) SNV Likely Pathogenic
1684442 GRCh37: 3:47046719-47046719
GRCh38: 3:47005229-47005229
38 NBEAL2 NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys) SNV Likely Pathogenic
1684443 GRCh37: 3:47046025-47046025
GRCh38: 3:47004535-47004535
39 NBEAL2 NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs) DEL Likely Pathogenic
1684444 GRCh37: 3:47044487-47044494
GRCh38: 3:47002997-47003004
40 NBEAL2 NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys) SNV Likely Pathogenic
1684445 GRCh37: 3:47044484-47044484
GRCh38: 3:47002994-47002994
41 NBEAL2 NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs) DEL Likely Pathogenic
1684446 GRCh37: 3:47044263-47044270
GRCh38: 3:47002773-47002780
42 NBEAL2 NM_015175.3(NBEAL2):c.7225-1G>C SNV Likely Pathogenic
804437 rs1575628744 GRCh37: 3:47048730-47048730
GRCh38: 3:47007240-47007240
43 NBEAL2 NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) SNV Likely Pathogenic
627357 rs749279630 GRCh37: 3:47047075-47047075
GRCh38: 3:47005585-47005585
44 NBEAL2 NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) SNV Likely Pathogenic
627099 rs1575619957 GRCh37: 3:47045362-47045362
GRCh38: 3:47003872-47003872
45 NBEAL2 NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) SNV Likely Pathogenic
627106 rs762258197 GRCh37: 3:47046526-47046526
GRCh38: 3:47005036-47005036
46 NBEAL2 NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) SNV Uncertain Significance
627111 rs1575623184 GRCh37: 3:47046711-47046711
GRCh38: 3:47005221-47005221
47 NBEAL2 NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) SNV Uncertain Significance
627286 rs1575602690 GRCh37: 3:47038304-47038304
GRCh38: 3:46996814-46996814
48 NBEAL2 NM_015175.3(NBEAL2):c.3373G>A (p.Asp1125Asn) SNV Uncertain Significance
345654 rs373444282 GRCh37: 3:47040358-47040358
GRCh38: 3:46998868-46998868
49 NBEAL2 NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr) SNV Uncertain Significance
345687 rs886058604 GRCh37: 3:47048598-47048598
GRCh38: 3:47007108-47007108
50 NBEAL2 NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) SNV Uncertain Significance
345634 rs376623029 GRCh37: 3:47037804-47037804
GRCh38: 3:46996314-46996314

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 rs1341020147
5 NBEAL2 p.Arg1839Cys VAR_066981 rs750160418
6 NBEAL2 p.Pro2100Leu VAR_066982 rs387907115
7 NBEAL2 p.His2263Tyr VAR_066983 rs1357067113
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 VWF SPARC SELP PLCG2 MPIG6B ITGA2B
2
Show member pathways
12.16 VWF GP9 GP6 GP5
3 11.74 VWF GP9 GP5 CLDN5
4 11.67 ITGA2B GP5 CD36
5
Show member pathways
11.54 VWF ITGA2B GP9 GP5
6
Show member pathways
11.42 PLCG2 MPIG6B GP6
7
Show member pathways
10.89 VWF GP9 GP6 GP5
8 10.87 VWF PLCG2 ITGA2B GP9 GP6 GP5

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 glycoprotein Ib-IX-V complex GO:1990779 9.56 GP9 GP5
2 platelet alpha granule membrane GO:0031092 9.56 SPARC SELP ITGA2B CD36
3 HOPS complex GO:0030897 9.5 VPS33B VIPAS39
4 vesicle tethering complex GO:0099023 9.46 VPS33B VIPAS39
5 platelet alpha granule GO:0031091 9.23 VWF VPS33B TREML1 SPARC

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.22 VWF SELP ITGA2B GP9 GP5 CLDN5
2 platelet activation GO:0030168 9.92 VWF TREML1 PLCG2 GP6
3 release of sequestered calcium ion into cytosol GO:0051209 9.91 GP5 GP9 PLCG2
4 intracellular transport GO:0046907 9.85 VPS33B VIPAS39 BLOC1S1
5 platelet formation GO:0030220 9.85 GATA1 MPIG6B NBEAL2
6 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.83 PLCG2 CD36
7 megakaryocyte differentiation GO:0030219 9.81 MPIG6B GATA1
8 peptidyl-lysine hydroxylation GO:0017185 9.8 VPS33B VIPAS39
9 blood coagulation, intrinsic pathway GO:0007597 9.78 GP9 GP5
10 positive regulation of platelet activation GO:0010572 9.73 SELP GP9 GP5
11 megakaryocyte development GO:0035855 9.56 VPS33B MPIG6B GP9 GP5
12 hemostasis GO:0007599 9.55 GP5 GP6 GP9 VWF
13 blood coagulation GO:0007596 9.36 VWF MPIG6B GP9 GP6 GP5 CD36

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 9.1 VWF SPARC GP6

Sources for Gray Platelet Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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