Gray Platelet Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Qualitative platelet defects

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

SNOMED-CT via HPO ⁶⁹ 109995007 12441001 128623006 more

UMLS ⁷¹ C0272302 C2717750

Sources

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...

Sources

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:

Sources

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

Sources

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

Sources

Genetic Tests for Gray Platelet Syndrome

Genetic tests related to Gray Platelet Syndrome:

#	Genetic test	Affiliating Genes
1	Gray Platelet Syndrome ²⁸	NBEAL2

Sources

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

Sources

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	Gunay-Aygun M...Gahl WA	21765412	2011
2	Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. ⁶² ⁵⁷ ⁵	Albers CA...Ouwehand WH	21765411	2011
3	Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. ⁶² ⁵⁷ ⁵	Kahr WH...Di Paola J	21765413	2011
4	Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. ⁶² ⁵	Sims MC...Guerrero JA	32693407	2020
5	Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. ⁶² ⁵⁷	Gunay-Aygun M...Falik-Zaccai T	20709904	2010
6	Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. ⁶² ⁵⁷	Nurden AT...Washington AV	18612537	2008
7	Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. ⁶² ⁵⁷	Nurden P...Nurden AT	15010364	2004
8	Newly recognized cellular abnormalities in the gray platelet syndrome. ⁶² ⁵⁷	Drouin A...Cramer EM	11520786	2001
9	Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. ⁶² ⁵⁷	Jantunen E...Lahtinen R	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	Gebrane-Younes J...Caen JP	7504696	1993
11	Gray platelet syndrome in the elderly. ⁶² ⁵⁷	Berrebi A...Lahav J	3414674	1988
12	Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. ⁶² ⁵⁷	Cramer EM...Breton-Gorius J	3877532	1985
13	Studies of platelets from patients with the grey platelet syndrome. ⁶² ⁵⁷	Greenberg-Sepersky SM...White JG	3986134	1985
14	Electron microscopic and functional studies on platelets in gray platelet syndrome. ⁶² ⁵⁷	Mori K...Sugai K	6484975	1984
15	Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. ⁶² ⁵⁷	Nurden AT...Caen JP	6460535	1982
16	Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules. ⁶² ⁵⁷	Gerrard JM...White JG	6156948	1980
17	Ultrastructural studies of the gray platelet syndrome. ⁶² ⁵⁷	White JG	453324	1979
18	Gray platelet syndrome. A variety of qualitative platelet disorder. ⁶² ⁵⁷	Raccuglia G	5129551	1971
19	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. ⁵	Downes K...Freson K	31064749	2019
20	Inherited thrombocytopenias. ⁵⁷	Nurden AT...Nurden P	17768118	2007
21	Inherited abnormalities of the platelet membrane and secretory granules. ⁵⁷	White JG	3542800	1987
22	A syndrome of platelet-release abnormality and mild hemophilia. ⁵⁷	Chesney C...Pechet L	4545510	1974
23	Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. ⁵⁷	Crowell EB...Eisner EV	4537881	1972
24	X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. ⁵³ ⁶²	Tubman VN...Fleming MD	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	Lages B...Weiss HJ	9042822	1997
26	Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. ⁵³ ⁶²	Berger G...Cramer EM	8608228	1996
27	Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes. ⁵³ ⁶²	Berger G...Cramer EM	7693034	1993
28	Localization of platelet osteonectin at the internal face of the alpha-granule membranes in platelets and megakaryocytes. ⁵³ ⁶²	Breton-Gorius J...Delmas PD	1737102	1992
29	Osteonectin is an alpha-granule component involved with thrombospondin in platelet aggregation. ⁵³ ⁶²	Clezardin P...Kaplan C	1796754	1991
30	Gray platelet syndrome, more than just a bleeding disorder. ⁶²	Regueiro Garcia A...Fernandez Sanmartin M	35953383	2022
31	Gray Platelet Syndrome with Severe Thrombocytopenia: A Novel NBEAL2 Gene Variant from India. ⁶²	Mevalegire Venkatagiri A...Godkhindi VM	36258725	2022
32	Thrombocytopenia in a child with polyarthritis: A pointer to gray platelet syndrome. ⁶²	Tyagi R...Suri D	35925939	2022
33	Screening platelet function in blood donors. ⁶²	Pedini P...Picard C	35748562	2022
34	Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome. ⁶²	Bergemalm D...Astrom M	33054111	2021
35	Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient. ⁶²	Aarts CEM...van den Akker E	34237592	2021
36	Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis. ⁶²	Tariq H...Medina EA	33586768	2021
37	Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. ⁶²	Pluthero FG...Kahr WHA	33300270	2021
38	Neutrophil specific granule and NETosis defects in gray platelet syndrome. ⁶²	Aarts CEM...Kuijpers TW	33496751	2021
39	A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation. ⁶²	Glembotsky AC...Heller PG	34408521	2021
40	Acquired Gray Platelet Syndrome Associated with Primary Myelofibrosis. ⁶²	Ido K...Nakamae H	32641652	2020
41	Gray platelet syndrome: immunity goes awry. ⁶²	Rao AK...Rao DA	33091137	2020
42	A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies. ⁶²	Mohan G...Balla M	33274150	2020
43	The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. ⁶²	Lo RW...Kahr WHA	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	Favier R...Deconinck E	31502501	2020
45	Zebrafish for thrombocytopoiesis- and hemostasis-related researches and disorders. ⁶²	Meng P...Zhang Y	35402814	2020
46	Gray platelet syndrome: Management of perioperative bleeding in redo cardiac surgery. ⁶²	Carrascal Y...Martinez-Almeida I	31710726	2020
47	A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. ⁶²	Riley R...Gunning W	31228350	2019
48	Striking emperipolesis in megakaryocytes of gray platelet syndrome. ⁶²	McGinnis E...Chipperfield KM	31248876	2019
49	Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. ⁶²	Kiran Gotru S...Braun A	31171812	2019
50	Binding of Coagulation Factor XIII Zymogen to Activated Platelet Subpopulations: Roles of Integrin αIIbβ3 and Fibrinogen. ⁶²	Kotova YN...Panteleev MA	30934104	2019

Sources

Genes for Gray Platelet Syndrome

Genes related to Gray Platelet Syndrome (1 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NBEAL2	Neurobeachin Like 2	Protein Coding	1713.08	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	21765411 21765412 21765413 (more) 31064749 32693407
2	SELP	Selectin P	Protein Coding	23.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9042822
3	TREML1	Triggering Receptor Expressed On Myeloid Cells Like 1	Protein Coding	22.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
4	GP9	Glycoprotein IX Platelet	Protein Coding	15.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8608228
5	GFI1B	Growth Factor Independent 1B Transcriptional Repressor	Protein Coding	15.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	GATA1	GATA Binding Protein 1	Protein Coding	14.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17209061
7	VWF	Von Willebrand Factor	Protein Coding	13.84	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	GP6	Glycoprotein VI Platelet	Protein Coding	13.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	GP5	Glycoprotein V Platelet	Protein Coding	12.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8608228
10	MASTL	Microtubule Associated Serine/Threonine Kinase Like	Protein Coding	12.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	MPIG6B	Megakaryocyte And Platelet Inhibitory Receptor G6b	Protein Coding	12.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	12.39	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1796754 1737102
13	PLCG2	Phospholipase C Gamma 2	Protein Coding	11.14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	CLDN5	Claudin 5	Protein Coding	10.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	CD36	CD36 Molecule	Protein Coding	8.99	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7693034
16	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	7.88	DISEASES inferred ¹⁴ ¹⁴
17	VIPAS39	VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog	Protein Coding	7.46	DISEASES inferred ¹⁴
18	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	7.39	DISEASES inferred ¹⁴
19	LYST	Lysosomal Trafficking Regulator	Protein Coding	6.74	DISEASES inferred ¹⁴
20	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	6.5	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Gray Platelet Syndrome

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

Sources

Pathways for Gray Platelet Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.76	VWF SPARC SELP PLCG2 MPIG6B ITGA2B
2	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	12.16	VWF GP9 GP6 GP5
3	22q11.2 copy number variation syndrome ⁷⁴	11.74	VWF GP9 GP5 CLDN5
4	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.67	ITGA2B GP5 CD36
5	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.54	VWF ITGA2B GP9 GP5
6	Microglia pathogen phagocytosis pathway ⁷⁴ Show member pathways GPVI-mediated activation cascade ⁶⁶	11.42	PLCG2 MPIG6B GP6
7	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	10.89	VWF GP9 GP6 GP5
8	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	10.87	VWF PLCG2 ITGA2B GP9 GP6 GP5

Sources

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

Sources for Gray Platelet Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

GPS MCID: GRY002 MIFTS: 57	Gray Platelet Syndrome (GPS) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Gray Platelet Syndrome (GPS)

Aliases & Classifications for Gray Platelet Syndrome

MalaCards integrated aliases for Gray Platelet Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Gray Platelet Syndrome

Related Diseases for Gray Platelet Syndrome

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

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

Symptoms & Phenotypes for Gray Platelet Syndrome

Human phenotypes related to Gray Platelet Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

Drugs & Therapeutics for Gray Platelet Syndrome

Interventional clinical trials:

Cochrane evidence based reviews: gray platelet syndrome

Genetic Tests for Gray Platelet Syndrome

Genetic tests related to Gray Platelet Syndrome:

Anatomical Context for Gray Platelet Syndrome

Organs/tissues related to Gray Platelet Syndrome:

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

Genes for Gray Platelet Syndrome

Genes related to Gray Platelet Syndrome (1 elite genes):

Variations for Gray Platelet Syndrome

ClinVar genetic disease variations for Gray Platelet Syndrome:

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

Expression for Gray Platelet Syndrome

Pathways for Gray Platelet Syndrome

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

GO Terms for Gray Platelet Syndrome

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

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

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

Sources for Gray Platelet Syndrome