GPS
MCID: GRY002
MIFTS: 58

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 57 12 73 20 43 58 72 36 29 13 54 6 44 15 39 70
Platelet Alpha-Granule Deficiency 57 12 20 43 58 72 70
Gps 57 12 20 43 58 72
Bdplt4 57 12 43 72
Bleeding Disorder, Platelet-Type, 4 57 43
Grey Platelet Syndrome 43 72
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 20
Bleeding Disorder, Platelet-Type, 4; Bdplt4 57
Platelet-Type Bleeding Disorder 4 12
Platelet Alpha Granule Deficiency 43
Bleeding Disorder Platelet-Type 4 72
Deficient Alpha Granule Syndrome 43
Alpha Storage Pool Deficiency 58
Platelet Granule Defect 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111044
OMIM® 57 139090
OMIM Phenotypic Series 57 PS231200
KEGG 36 H02097
MeSH 44 D055652
NCIt 50 C84741
SNOMED-CT 67 51720005
ICD10 32 D69.1
MESH via Orphanet 45 D055652
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 71 C0272302 C2717750
Orphanet 58 ORPHA721
MedGen 41 C0272302
UMLS 70 C0272302 C2717750

Summaries for Gray Platelet Syndrome

MedlinePlus Genetics : 43 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 bernard-soulier syndrome and storage pool platelet disease. 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 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.

GARD : 20 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® : 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 05-Apr-2021)

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 : 72 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 : 73 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 364)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 31.7 VWF SELP NBEAL2 GP9 GP6 GP5
2 storage pool platelet disease 30.5 GFI1B BLOC1S1
3 thrombocytopenia with beta-thalassemia, x-linked 30.5 VPS33B NBEAL2 GP9 GP6 GATA1
4 thrombocytopenia due to platelet alloimmunization 30.3 SELP GP9 GP5
5 blood platelet disease 30.1 VWF SELP NBEAL2 GP9 GP6 GP5
6 vasculitis 29.8 VWF SELP CD40LG
7 thrombocytopenia 29.7 VWF VPS33B SPARC SELP PLCG2 NBEAL2
8 genitopatellar syndrome 11.6
9 bleeding disorder, platelet-type, 17 11.1
10 ohdo syndrome, sbbys variant 10.9
11 goodpasture syndrome 10.9
12 myelofibrosis 10.5
13 dementia 10.4
14 platelet aggregation, spontaneous 10.4 VWF SELP
15 intracranial embolism 10.4 VWF SELP
16 inverted follicular keratosis 10.4 GP6 GP5
17 focal epithelial hyperplasia 10.3 GP6 GP5
18 splenomegaly 10.3
19 chronic cervicitis 10.3 GP6 GP5
20 carotid artery thrombosis 10.3 VWF SELP GP6
21 occlusion precerebral artery 10.3 SELP GP6
22 cervical adenosarcoma 10.3 GP6 GP5
23 intracranial thrombosis 10.3 VWF SELP GP6
24 penis squamous cell carcinoma 10.3 GP6 GP5
25 coronary thrombosis 10.3 VWF SELP GP6
26 mandibular cancer 10.3 GP6 GP5
27 african tick-bite fever 10.3 VWF CD40LG
28 von willebrand disease, type 1 10.3 VWF GP6
29 von willebrand's disease 10.3 VWF SELP GP9
30 antiphospholipid syndrome 10.3 VWF SELP CD40LG
31 thrombasthenia 10.3 SELP GP9 CD36
32 pseudo-von willebrand disease 10.2 VWF GP9 GP6 GATA1
33 thrombosis 10.2 VWF SELP GP6 CD40LG
34 glanzmann thrombasthenia 10.2 VWF SELP GP9 GP6
35 essential thrombocythemia 10.2 VWF SELP GATA1 CD40LG
36 osteofibrous dysplasia 10.2 SPARC CD36
37 ventriculomegaly with cystic kidney disease 10.2 GP9 GP5
38 uterus carcinoma in situ 10.2 GP6 GP5
39 hemorrhagic disease 10.2 VWF SELP NBEAL2 GP6 GFI1B
40 urinary tract infection 10.2
41 disease of mental health 10.2
42 back pain 10.2
43 cervix uteri carcinoma in situ 10.2 GP6 GP5
44 bleeding disorder, platelet-type, 11 10.2 TREML1 SELP PLCG2 GP6 CD36
45 coronary heart disease 1 10.2
46 headache 10.2
47 hermansky-pudlak syndrome 10.1 VWF VPS33B NBEAL2 BLOC1S1
48 purpura 10.1
49 thalassemia 10.1
50 asthma 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 31 (show all 16)
# 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
16 abnormal number of alpha granules 31 HP:0012528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

46
# 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 10.1 CD36 CD40LG GATA1 GFI1B GP6 GP9
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 9.36 CD36 CD40LG GATA1 GP6 MPIG6B NBEAL2

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 29 NBEAL2

Anatomical Context for Gray Platelet Syndrome

MalaCards organs/tissues related to Gray Platelet Syndrome:

40
Bone, Bone Marrow, Spleen, Neutrophil, Brain, Smooth Muscle, Endothelial

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 61 57 6
21765411 2011
2
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 61 6 57
21765413 2011
3
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 57 6 61
21765412 2011
4
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. 6 61
32693407 2020
5
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. 61 57
20709904 2010
6
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. 57 61
18612537 2008
7
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. 57 61
15010364 2004
8
Newly recognized cellular abnormalities in the gray platelet syndrome. 57 61
11520786 2001
9
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. 57 61
8192152 1994
10
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. 61 57
7504696 1993
11
Gray platelet syndrome in the elderly. 61 57
3414674 1988
12
Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. 61 57
3877532 1985
13
Electron microscopic and functional studies on platelets in gray platelet syndrome. 61 57
6484975 1984
14
Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. 57 61
6460535 1982
15
Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules. 57 61
6156948 1980
16
Ultrastructural studies of the gray platelet syndrome. 57 61
453324 1979
17
Gray platelet syndrome. A variety of qualitative platelet disorder. 57 61
5129551 1971
18
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
19
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 6
28041820 2017
20
GFI1B mutation causes a bleeding disorder with abnormal platelet function. 6
23927492 2013
21
Inherited thrombocytopenias. 57
17768118 2007
22
Inherited abnormalities of the platelet membrane and secretory granules. 57
3542800 1987
23
Studies of platelets from patients with the grey platelet syndrome. 57
3986134 1985
24
Hereditary thrombocytopathy: a familial bleeding disorder due to impaired platelet coagulant activity. 6
1065298 1976
25
A syndrome of platelet-release abnormality and mild hemophilia. 57
4545510 1974
26
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. 57
4537881 1972
27
Familial thrombopathic thrombocytopenia. 6
5681484 1968
28
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. 54 61
17209061 2007
29
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). 61 54
9042822 1997
30
Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. 61 54
8608228 1996
31
Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes. 54 61
7693034 1993
32
Localization of platelet osteonectin at the internal face of the alpha-granule membranes in platelets and megakaryocytes. 54 61
1737102 1992
33
Osteonectin is an alpha-granule component involved with thrombospondin in platelet aggregation. 61 54
1796754 1991
34
Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis. 61
33586768 2021
35
Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. 61
33300270 2021
36
Neutrophil specific granule and NETosis defects in gray platelet syndrome. 61
33496751 2021
37
Acquired Gray Platelet Syndrome Associated with Primary Myelofibrosis. 61
32641652 2020
38
Gray platelet syndrome: immunity goes awry. 61
33091137 2020
39
A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies. 61
33274150 2020
40
Platelet proteome and function in X-linked thrombocytopenia with thalassemia and <i>in silico</i> comparisons with gray platelet syndrome. 61
33054111 2020
41
The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. 61
32384141 2020
42
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
43
Gray platelet syndrome: Management of perioperative bleeding in redo cardiac surgery. 61
31710726 2020
44
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. 61
31228350 2019
45
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. 61
31171812 2019
46
Striking emperipolesis in megakaryocytes of gray platelet syndrome. 61
31248876 2019
47
Idiopathic Purpura With Gray Platelets: an Acquired Form of Gray Platelet Syndrome. 61
30334901 2019
48
Platelet α-granules modulate the inflammatory response under systemic lipopolysaccharide injection in mice. 61
30394544 2019
49
Sorting machineries: how platelet-dense granules differ from α-granules. 61
30104399 2018
50
NBEAL2 mutations and bleeding in patients with gray platelet syndrome. 61
29869935 2018

Variations for Gray Platelet Syndrome

ClinVar genetic disease variations for Gray Platelet Syndrome:

6 (show top 50) (show all 256)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBEAL2 NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) SNV Pathogenic 31116 rs387907112 GRCh37: 3:47038800-47038800
GRCh38: 3:46997310-46997310
2 NBEAL2 NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) SNV Pathogenic 31118 rs387907113 GRCh37: 3:47035476-47035476
GRCh38: 3:46993986-46993986
3 NBEAL2 NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) SNV Pathogenic 31119 rs387907114 GRCh37: 3:47037233-47037233
GRCh38: 3:46995743-46995743
4 NBEAL2 NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) SNV Pathogenic 31120 rs387907115 GRCh37: 3:47046466-47046466
GRCh38: 3:47004976-47004976
5 NBEAL2 NM_001365116.2(NBEAL2):c.1721G>A (p.Trp574Ter) SNV Pathogenic 31121 rs794726682 GRCh37: 3:47037048-47037048
GRCh38: 3:46995558-46995558
6 NBEAL2 NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs) Duplication Pathogenic 31122 rs794726683 GRCh37: 3:47044240-47044241
GRCh38: 3:47002750-47002751
7 GFI1B NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) SNV Pathogenic 102428 rs587777211 GRCh37: 9:135866303-135866303
GRCh38: 9:132990916-132990916
8 GFI1B NM_001377304.1(GFI1B):c.880dup (p.His294fs) Duplication Pathogenic 88891 rs397989794 GRCh37: 9:135866321-135866322
GRCh38: 9:132990934-132990935
9 NBEAL2 NM_015175.2(NBEAL2):c.4081G>T (p.Glu1361Ter) SNV Pathogenic 435928 rs1553663498 GRCh37: 3:47041670-47041670
GRCh38: 3:47000180-47000180
10 NBEAL2 NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter) SNV Pathogenic 435927 rs1553659758 GRCh37: 3:47037018-47037018
GRCh38: 3:46995528-46995528
11 GFI1B NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) SNV Pathogenic 438347 rs775963992 GRCh37: 9:135866367-135866367
GRCh38: 9:132990980-132990980
12 GFI1B NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter) SNV Pathogenic 438346 rs1554724694 GRCh37: 9:135865273-135865273
GRCh38: 9:132989886-132989886
13 NBEAL2 NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter) SNV Pathogenic 627258 rs1172581672 GRCh37: 3:47037014-47037014
GRCh38: 3:46995524-46995524
14 NBEAL2 NM_015175.3(NBEAL2):c.3118+2T>G SNV Pathogenic 812961 rs1349443190 GRCh37: 3:47039718-47039718
GRCh38: 3:46998228-46998228
15 NBEAL2 NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) Deletion Pathogenic 812962 rs1575623114 GRCh37: 3:47046681-47046681
GRCh38: 3:47005191-47005191
16 NBEAL2 NM_015175.2(NBEAL2):c.607dup (p.Ile203fs) Duplication Pathogenic 627345 rs1575592157 GRCh37: 3:47032758-47032759
GRCh38: 3:46991268-46991269
17 NBEAL2 NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter) SNV Pathogenic 627372 rs1575629721 GRCh37: 3:47049067-47049067
GRCh38: 3:47007577-47007577
18 NBEAL2 NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) Duplication Pathogenic 982270 GRCh37: 3:47036949-47036950
GRCh38: 3:46995459-46995460
19 NBEAL2 NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) Duplication Pathogenic 982272 GRCh37: 3:47038849-47038850
GRCh38: 3:46997359-46997360
20 NBEAL2 NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) Deletion Pathogenic 982274 GRCh37: 3:47043555-47043556
GRCh38: 3:47002065-47002066
21 NBEAL2 NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) Duplication Pathogenic 982276 GRCh37: 3:47048609-47048610
GRCh38: 3:47007119-47007120
22 NBEAL2 NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) Deletion Pathogenic 982277 GRCh37: 3:47043514-47043514
GRCh38: 3:47002024-47002024
23 NBEAL2 NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) Deletion Pathogenic 982278 GRCh37: 3:47049185-47049185
GRCh38: 3:47007695-47007695
24 NBEAL2 NM_015175.3(NBEAL2):c.6920-1G>C SNV Pathogenic 982279 GRCh37: 3:47047654-47047654
GRCh38: 3:47006164-47006164
25 NBEAL2 NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) Deletion Pathogenic 982280 GRCh37: 3:47046986-47046986
GRCh38: 3:47005496-47005496
26 NBEAL2 NM_015175.3(NBEAL2):c.4485-1G>T SNV Pathogenic 982282 GRCh37: 3:47042768-47042768
GRCh38: 3:47001278-47001278
27 NBEAL2 NM_015175.3(NBEAL2):c.2650-1G>A SNV Pathogenic 982286 GRCh37: 3:47038748-47038748
GRCh38: 3:46997258-46997258
28 NBEAL2 NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) SNV Pathogenic 31117 rs372277612 GRCh37: 3:47033134-47033134
GRCh38: 3:46991644-46991644
29 NBEAL2 NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) Microsatellite Pathogenic 982290 GRCh37: 3:47036694-47036695
GRCh38: 3:46995204-46995205
30 NBEAL2 NM_015175.3(NBEAL2):c.4048_4049del (p.Ser1350fs) Microsatellite Pathogenic 1031878 GRCh37: 3:47041632-47041633
GRCh38: 3:47000142-47000143
31 NBEAL2 NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) SNV Likely pathogenic 982289 GRCh37: 3:47047528-47047528
GRCh38: 3:47006038-47006038
32 NBEAL2 NM_015175.3(NBEAL2):c.7225-1G>C SNV Likely pathogenic 804437 rs1575628744 GRCh37: 3:47048730-47048730
GRCh38: 3:47007240-47007240
33 NBEAL2 NM_015175.2(NBEAL2):c.6657C>A (p.Phe2219Leu) SNV Likely pathogenic 627357 rs749279630 GRCh37: 3:47047075-47047075
GRCh38: 3:47005585-47005585
34 NBEAL2 NM_015175.2(NBEAL2):c.1860del (p.Ala621fs) Deletion Likely pathogenic 627267 rs1235183015 GRCh37: 3:47037085-47037085
GRCh38: 3:46995595-46995595
35 NBEAL2 NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr) SNV Likely pathogenic 627099 rs1575619957 GRCh37: 3:47045362-47045362
GRCh38: 3:47003872-47003872
36 NBEAL2 NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln) SNV Likely pathogenic 627106 rs762258197 GRCh37: 3:47046526-47046526
GRCh38: 3:47005036-47005036
37 NBEAL2 NM_015175.2(NBEAL2):c.6460T>C (p.Phe2154Leu) SNV Uncertain significance 627111 rs1575623184 GRCh37: 3:47046711-47046711
GRCh38: 3:47005221-47005221
38 NBEAL2 NM_015175.2(NBEAL2):c.2537T>C (p.Leu846Pro) SNV Uncertain significance 627286 rs1575602690 GRCh37: 3:47038304-47038304
GRCh38: 3:46996814-46996814
39 NBEAL2 NM_015175.2(NBEAL2):c.1976G>A (p.Arg659Gln) SNV Uncertain significance 417948 rs567205565 GRCh37: 3:47037281-47037281
GRCh38: 3:46995791-46995791
40 GFI1B NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) SNV Uncertain significance 417959 rs144046935 GRCh37: 9:135864505-135864505
GRCh38: 9:132989118-132989118
41 NBEAL2 NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn) SNV Uncertain significance 345654 rs373444282 GRCh37: 3:47040358-47040358
GRCh38: 3:46998868-46998868
42 NBEAL2 NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr) SNV Uncertain significance 345687 rs886058604 GRCh37: 3:47048598-47048598
GRCh38: 3:47007108-47007108
43 NBEAL2 NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met) SNV Uncertain significance 345634 rs376623029 GRCh37: 3:47037804-47037804
GRCh38: 3:46996314-46996314
44 NBEAL2 NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln) SNV Uncertain significance 345631 rs374527787 GRCh37: 3:47037096-47037096
GRCh38: 3:46995606-46995606
45 CCDC12 , NBEAL2 NM_015175.2(NBEAL2):c.51+11C>T SNV Uncertain significance 345611 rs886058590 GRCh37: 3:47021413-47021413
GRCh38: 3:46979923-46979923
46 NBEAL2 NM_015175.2(NBEAL2):c.*244C>G SNV Uncertain significance 345703 rs886058610 GRCh37: 3:47051054-47051054
GRCh38: 3:47009564-47009564
47 NBEAL2 NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile) SNV Uncertain significance 345651 rs373596976 GRCh37: 3:47039969-47039969
GRCh38: 3:46998479-46998479
48 NBEAL2 NM_015175.2(NBEAL2):c.8164-3C>G SNV Uncertain significance 345694 rs886058606 GRCh37: 3:47050706-47050706
GRCh38: 3:47009216-47009216
49 NBEAL2 NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr) SNV Uncertain significance 345626 rs746838327 GRCh37: 3:47036618-47036618
GRCh38: 3:46995128-46995128
50 NBEAL2 NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=) SNV Uncertain significance 345682 rs563986757 GRCh37: 3:47047259-47047259
GRCh38: 3:47005769-47005769

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

72
# 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 9.93 VWF VPS33B TREML1 SPARC SELP PLCG2
2 collagen binding GO:0005518 8.8 VWF SPARC GP6

Sources for Gray Platelet Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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