BDPLT18
MCID: BLD126
MIFTS: 41

Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Bleeding Disorder, Platelet-Type, 18

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 18:

Name: Bleeding Disorder, Platelet-Type, 18 57 73 71
Platelet-Type Bleeding Disorder 18 11 28 5 14
Bdplt18 57 11 73
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency 11 58
Bleeding Disorder Due to Caldag-Gefi Deficiency 11 58
Bleeding Disorder, Platelet Type 18 38

Characteristics:


Inheritance:

Bleeding Disorder, Platelet-Type, 18: Autosomal recessive 57
Bleeding Disorder Due to Caldag-Gefi Deficiency: Autosomal recessive 58

Prevelance:

Bleeding Disorder Due to Caldag-Gefi Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Bleeding Disorder Due to Caldag-Gefi Deficiency: Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
one family has been reported (last curated july 2014)


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0111051
OMIM® 57 615888
OMIM Phenotypic Series 57 PS231200
ICD10 31 D69.1
ICD10 via Orphanet 32 D69.1
Orphanet 58 ORPHA420566
SNOMED-CT via HPO 69 12441001 249366005
UMLS 71 C4014584

Summaries for Bleeding Disorder, Platelet-Type, 18

Orphanet: 58 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.

MalaCards based summary: Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to leukocyte adhesion deficiency, type i and leukocyte adhesion deficiency, type iii. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are epistaxis and prolonged bleeding time

Disease Ontology: 11 A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material basis in homozygous mutation in the RASGRP2 gene on chromosome 11q13.

UniProtKB/Swiss-Prot: 73 A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.

More information from OMIM: 615888 PS231200

Related Diseases for Bleeding Disorder, Platelet-Type, 18

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13 Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9 Bleeding Disorder, Platelet-Type, 15
Bleeding Disorder, Platelet-Type, 18 Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 20 Bleeding Disorder, Platelet-Type, 21
Bleeding Disorder, Platelet-Type, 22 Bleeding Disorder, Platelet-Type, 24

Diseases related to Bleeding Disorder, Platelet-Type, 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type i 10.1 RASGRP2 FERMT3
2 leukocyte adhesion deficiency, type iii 9.9 RASGRP2 RASGRP1 FERMT3
3 fetal and neonatal alloimmune thrombocytopenia 9.9 ITGB3 ITGA2B
4 bleeding disorder, platelet-type, 16 9.9 ITGB3 ITGA2B
5 autosomal dominant macrothrombocytopenia 9.9 ITGB3 ITGA2B
6 malignant gastric germ cell tumor 9.9 ITGB3 ITGA2B
7 heparin-induced thrombocytopenia 9.9 ITGB3 ITGA2B
8 gastric teratoma 9.9 ITGB3 ITGA2B
9 primary thrombocytopenia 9.9 ITGB3 ITGA2B
10 myeloproliferative syndrome, transient 9.9 ITGB3 ITGA2B
11 coronary thrombosis 9.8 ITGB3 ITGA2B
12 thrombocytopenia due to platelet alloimmunization 9.8 ITGB3 ITGA2B
13 myelitis 9.8 ITGB3 ITGA2B
14 gray platelet syndrome 9.8 NBEAL2 ITGA2B
15 thrombocytopenic purpura, autoimmune 9.8 ITGB3 ITGA2B
16 myh-9 related disease 9.8 SLFN14 NBEAL2
17 purpura 9.8 ITGB3 ITGA2B
18 stormorken syndrome 9.8 SLFN14 NBEAL2
19 thrombasthenia 9.8 RASGRP2 ITGB3 ITGA2B
20 blood coagulation disease 9.7 ITGB3 ITGA2B
21 acute megakaryocytic leukemia 9.7 ITGB3 ITGA2B
22 acquired thrombocytopenia 9.7 NBEAL2 ITGB3 ITGA2B
23 blood platelet disease 9.6 NBEAL2 ITGB3 ITGA2B
24 combined immunodeficiency 9.6 RASGRP2 RASGRP1 FERMT3
25 amegakaryocytic thrombocytopenia, congenital 9.5 SLFN14 NBEAL2 ITGA2B
26 glanzmann thrombasthenia 1 9.3 RASGRP2 NBEAL2 ITGB3 ITGA2B FERMT3
27 bernard-soulier syndrome 9.2 SLFN14 NBEAL2 ITGB3 ITGA2B
28 thrombocytopenia 9.1 SLFN14 RASGRP2 NBEAL2 ITGB3 ITGA2B

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 18:



Diseases related to Bleeding Disorder, Platelet-Type, 18

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 18

Human phenotypes related to Bleeding Disorder, Platelet-Type, 18:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis 30 HP:0000421
2 prolonged bleeding time 30 HP:0003010
3 impaired platelet aggregation 30 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Nose:
epistaxis

Hematology:
mucocutaneous bleeding due to platelet dysfunction
impaired platelet aggregation and spreading

Laboratory Abnormalities:
prolonged bleeding time

Clinical features from OMIM®:

615888 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Bleeding Disorder, Platelet-Type, 18:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.5 FERMT3 ITGA2B ITGB3 NBEAL2 RASGRP1 RASGRP2
2 hematopoietic system MP:0005397 9.17 FERMT3 ITGA2B ITGB3 NBEAL2 RASGRP1 RASGRP2

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 18

Search Clinical Trials, NIH Clinical Center for Bleeding Disorder, Platelet-Type, 18

Genetic Tests for Bleeding Disorder, Platelet-Type, 18

Genetic tests related to Bleeding Disorder, Platelet-Type, 18:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 18 28 RASGRP2

Anatomical Context for Bleeding Disorder, Platelet-Type, 18

Organs/tissues related to Bleeding Disorder, Platelet-Type, 18:

MalaCards : Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Bleeding Disorder, Platelet-Type, 18

Articles related to Bleeding Disorder, Platelet-Type, 18:

# Title Authors PMID Year
1
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. 57 5
24958846 2014
2
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. 5
28983057 2018
5
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. 5
27235135 2016
6
Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG). 62
34066320 2021
7
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. 62
32041177 2020
8
RASGRP2 gene variations associated with platelet dysfunction and bleeding. 62
30849270 2019

Variations for Bleeding Disorder, Platelet-Type, 18

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RASGRP2 NM_001098671.2(RASGRP2):c.742G>T (p.Gly248Trp) SNV Pathogenic
139647 rs587777529 GRCh37: 11:64506903-64506903
GRCh38: 11:64739431-64739431
2 RASGRP2 NM_001098671.2(RASGRP2):c.337C>T (p.Arg113Ter) SNV Pathogenic
1677270 GRCh37: 11:64508454-64508454
GRCh38: 11:64740982-64740982
3 RASGRP2 NM_001098671.2(RASGRP2):c.706C>T (p.Gln236Ter) SNV Pathogenic
1679094 GRCh37: 11:64506939-64506939
GRCh38: 11:64739467-64739467
4 RASGRP2 NM_001098671.2(RASGRP2):c.1142C>T (p.Ser381Phe) SNV Pathogenic
1677271 GRCh37: 11:64503406-64503406
GRCh38: 11:64735934-64735934
5 RASGRP2 NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr) SNV Likely Pathogenic
1677269 GRCh37: 11:64504433-64504433
GRCh38: 11:64736961-64736961
6 RASGRP2 NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro) SNV Likely Pathogenic
812733 rs200434813 GRCh37: 11:64504287-64504287
GRCh38: 11:64736815-64736815
7 RASGRP2 NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) DUP Likely Pathogenic
812732 rs774996406 GRCh37: 11:64497599-64497600
GRCh38: 11:64730127-64730128
8 RASGRP2 NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) DEL Likely Pathogenic
627002 rs752492512 GRCh37: 11:64497589-64497589
GRCh38: 11:64730117-64730117
9 RASGRP2 NM_001098671.2(RASGRP2):c.742G>C (p.Gly248Arg) SNV Likely Pathogenic
1684408 GRCh37: 11:64506903-64506903
GRCh38: 11:64739431-64739431
10 RASGRP2 NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp) SNV Likely Pathogenic
627184 rs1592371840 GRCh37: 11:64504406-64504406
GRCh38: 11:64736934-64736934
11 RASGRP2 NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs) DUP Likely Pathogenic
417937 rs1555122100 GRCh37: 11:64497598-64497599
GRCh38: 11:64730126-64730127
12 RASGRP2 NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) SNV Conflicting Interpretations Of Pathogenicity
417938 rs1060499609 GRCh37: 11:64507262-64507262
GRCh38: 11:64739790-64739790
13 RASGRP2 NM_001098671.2(RASGRP2):c.1717C>T (p.Arg573Cys) SNV Uncertain Significance
1684320 GRCh37: 11:64496389-64496389
GRCh38: 11:64728917-64728917
14 RASGRP2 NM_001098671.2(RASGRP2):c.1096-44T>C SNV Benign
1287361 GRCh37: 11:64503496-64503496
GRCh38: 11:64736024-64736024
15 RASGRP2 NM_001098671.2(RASGRP2):c.1174-43T>C SNV Benign
1289252 GRCh37: 11:64503179-64503179
GRCh38: 11:64735707-64735707
16 RASGRP2 NM_001098671.2(RASGRP2):c.523-34A>G SNV Benign
1231140 GRCh37: 11:64507315-64507315
GRCh38: 11:64739843-64739843
17 RASGRP2 NM_001098671.2(RASGRP2):c.1591+45T>G SNV Benign
1248539 GRCh37: 11:64497189-64497189
GRCh38: 11:64729717-64729717
18 RASGRP2 NM_001098671.2(RASGRP2):c.372-45T>G SNV Benign
1259868 GRCh37: 11:64507680-64507680
GRCh38: 11:64740208-64740208

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

73
# Symbol AA change Variation ID SNP ID
1 RASGRP2 p.Gly248Trp VAR_071474 rs587777529
2 RASGRP2 p.Cys296Tyr VAR_079616
3 RASGRP2 p.Gly305Asp VAR_079617
4 RASGRP2 p.Ser381Phe VAR_079618 rs767965347

Expression for Bleeding Disorder, Platelet-Type, 18

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 18.

Pathways for Bleeding Disorder, Platelet-Type, 18

Pathways related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 RASGRP2 RASGRP1 RASGRF1 ITGB3 ITGA2B
2 13.44 RASGRP2 RASGRP1 RASGRF1 ITGB3 ITGA2B
3
Show member pathways
13.06 RASGRP1 RASGRF1 ITGB3 ITGA2B
4
Show member pathways
12.83 FERMT3 ITGA2B ITGB3 RASGRP1 RASGRP2
5
Show member pathways
12.54 RASGRP2 ITGB3 ITGA2B
6
Show member pathways
12.45 RASGRF1 ITGB3 ITGA2B
7
Show member pathways
12.09 RASGRF1 ITGB3 ITGA2B
8 12.09 RASGRP2 RASGRP1 RASGRF1
9 11.98 RASGRF1 ITGB3 ITGA2B
10
Show member pathways
11.93 RASGRP1 ITGB3 ITGA2B
11 11.92 RASGRP2 RASGRP1 RASGRF1
12 11.56 RASGRP2 RASGRP1 RASGRF1
13
Show member pathways
11.4 RASGRP1 RASGRF1
14 11.31 ITGB3 ITGA2B
15 11.31 RASGRP2 RASGRP1 ITGB3 ITGA2B
16 11.25 ITGB3 ITGA2B
17
Show member pathways
11.2 RASGRP2 RASGRP1 RASGRF1
18 11.17 ITGB3 ITGA2B
19 11.15 RASGRP1 RASGRF1
20 11.13 ITGB3 ITGA2B
21 11.05 ITGA2B ITGB3
22
Show member pathways
11.04 RASGRP1 RASGRP2
23
Show member pathways
10.91 RASGRP2 RASGRP1 ITGB3 ITGA2B
24
Show member pathways
10.84 RASGRP2 RASGRP1 RASGRF1
25 10.82 ITGB3 ITGA2B
26 10.71 ITGB3 ITGA2B
27 10.64 RASGRP2 RASGRP1
28 10.56 RASGRP2 RASGRP1 RASGRF1

GO Terms for Bleeding Disorder, Platelet-Type, 18

Cellular components related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin complex GO:0008305 9.26 ITGB3 ITGA2B
2 platelet alpha granule membrane GO:0031092 8.92 ITGB3 ITGA2B

Biological processes related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.85 RASGRP2 RASGRP1 RASGRF1
2 platelet aggregation GO:0070527 9.73 ITGB3 FERMT3
3 cell-matrix adhesion GO:0007160 9.73 ITGB3 ITGA2B FERMT3
4 cell adhesion mediated by integrin GO:0033627 9.71 ITGB3 ITGA2B
5 positive regulation of Ras protein signal transduction GO:0046579 9.62 RASGRP1 RASGRF1
6 integrin-mediated signaling pathway GO:0007229 9.43 ITGB3 ITGA2B FERMT3
7 small GTPase mediated signal transduction GO:0007264 9.33 RASGRP2 RASGRP1 RASGRF1
8 Ras protein signal transduction GO:0007265 9.1 RASGRP2 RASGRP1 RASGRF1

Molecular functions related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.8 RASGRP2 RASGRP1 FERMT3
2 guanyl-nucleotide exchange factor activity GO:0005085 9.73 RASGRP2 RASGRP1 RASGRF1
3 extracellular matrix binding GO:0050840 9.46 ITGB3 ITGA2B
4 integrin binding GO:0005178 9.43 ITGB3 ITGA2B FERMT3
5 diacylglycerol binding GO:0019992 8.92 RASGRP2 RASGRP1

Sources for Bleeding Disorder, Platelet-Type, 18

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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