BDPLT18
MCID: BLD126
MIFTS: 39

Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 18

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

Name: Bleeding Disorder, Platelet-Type, 18 57 70
Platelet-Type Bleeding Disorder 18 12 29 6 15
Bdplt18 57 12 72
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency 12 58
Bleeding Disorder Due to Caldag-Gefi Deficiency 12 58
Bleeding Disorder, Platelet-Type 18 72
Bleeding Disorder, Platelet Type 18 39

Characteristics:

Orphanet epidemiological data:

58
bleeding disorder due to caldag-gefi deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one family has been reported (last curated july 2014)


HPO:

31
bleeding disorder, platelet-type, 18:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111051
OMIM® 57 615888
OMIM Phenotypic Series 57 PS231200
ICD10 32 D69.1
ICD10 via Orphanet 33 D69.1
Orphanet 58 ORPHA420566
SNOMED-CT via HPO 68 12441001 249366005 258211005
UMLS 70 C4014584

Summaries for Bleeding Disorder, Platelet-Type, 18

Disease Ontology : 12 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.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to inhalation anthrax and glanzmann thrombasthenia 1. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Related phenotypes are epistaxis and prolonged bleeding time

UniProtKB/Swiss-Prot : 72 Bleeding disorder, platelet-type 18: 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

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:

31
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 prolonged bleeding time 31 HP:0003010
3 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 9.23 P2RY12 RAP1GAP RHOA RRAS VWF
2 Decreased POU5F1-GFP protein expression GR00184-A-4 9.23 RHOA RRAS VWF

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 CD38 FERMT3 P2RY12 RAP1A RAPGEF2 RAPGEF3
2 cardiovascular system MP:0005385 10.02 FERMT3 RAP1A RAPGEF2 RAPGEF3 RAPGEF4 RASA3
3 cellular MP:0005384 9.96 CD38 LRPAP1 RAP1A RAPGEF2 RAPGEF3 RASA3
4 homeostasis/metabolism MP:0005376 9.83 CD38 FERMT3 LRPAP1 P2RY12 RAP1GAP RAPGEF3
5 immune system MP:0005387 9.5 CD38 FERMT3 RAP1A RAPGEF2 RAPGEF3 RAPGEF4

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 29 RASGRP2

Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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 6
24958846 2014
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. 61
32041177 2020
4
RASGRP2 gene variations associated with platelet dysfunction and bleeding. 61
30849270 2019

Variations for Bleeding Disorder, Platelet-Type, 18

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

6
# 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.1480dup (p.Arg494fs) Duplication Likely pathogenic 417937 rs1555122100 GRCh37: 11:64497598-64497599
GRCh38: 11:64730126-64730127
3 RASGRP2 NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) Deletion Likely pathogenic 627002 rs752492512 GRCh37: 11:64497589-64497589
GRCh38: 11:64730117-64730117
4 RASGRP2 NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) Duplication Likely pathogenic 812732 rs774996406 GRCh37: 11:64497599-64497600
GRCh38: 11:64730127-64730128
5 RASGRP2 NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro) SNV Likely pathogenic 812733 rs200434813 GRCh37: 11:64504287-64504287
GRCh38: 11:64736815-64736815
6 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

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

72
# 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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.05 VWF RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
2
Show member pathways
13.93 VWF RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
3
Show member pathways
13.39 VWF RRAS RHOA RASGRP4 RASGRP3 RASGRP1
4
Show member pathways
13.33 RASGRP3 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP
5
Show member pathways
13.24 VWF RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2
6
Show member pathways
13.18 VWF SELE RHOA RASGRP2 RASGRP1 RAPGEF4
7 12.72 RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
8 12.67 RRAS RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
9
Show member pathways
12.66 RASGRP1 RAPGEF4 RAPGEF3 RAPGEF2 RAP1GAP RAP1A
10
Show member pathways
12.54 RRAS RHOA RAP1GAP RAP1A
11
Show member pathways
12.53 RHOA RAPGEF4 RAPGEF3 RAP1A
12 12.46 RRAS RHOA RASGRP3 RAPGEF4 RAPGEF3 RAP1A
13
Show member pathways
12.42 RAPGEF4 RAPGEF3 RAP1A P2RY12
14
Show member pathways
12.32 RHOA RAPGEF4 RAPGEF3 RAP1A
15
Show member pathways
12.28 RRAS RHOA RAPGEF4 RAPGEF3
16 12.27 RRAS RHOA RAPGEF4 RAPGEF3 RAP1A
17
Show member pathways
12.05 RRAS RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
18
Show member pathways
11.95 VWF RASA3 RAP1A
19 11.91 RAPGEF4 RAPGEF3 CD38
20
Show member pathways
11.9 RAPGEF3 RAPGEF2 RAP1A
21 11.89 VWF RHOA RASGRP2 RASGRP1 RAP1A P2RY12
22
Show member pathways
11.83 RASGRP2 RASGRP1 RAP1A
23 11.81 RHOA RASGRP2 RASGRP1
24
Show member pathways
11.79 VWF RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1A
25 11.68 RRAS RHOA RASGRP2 RASGRP1 RAP1GAP RAP1A
26 11.48 RHOA RASGRP3 RASGRP1 RAP1A
27
Show member pathways
11.47 RASGRP3 RASGRP2 RASGRP1 RAP1A
28 11.26 RASGRP3 RASGRP2 RASA3 RAPGEF4 RAPGEF3 RAPGEF2
29
Show member pathways
11.21 RRAS RHOA RAP1A
30 10.84 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP RAP1A
31 10.24 RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2

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 membrane GO:0016020 9.83 SELE RRAS RHOA RASGRP4 RASGRP2 RASGRP1
2 plasma membrane GO:0005886 9.5 SELE RRAS RHOA RASGRP4 RASGRP3 RASGRP2
3 guanyl-nucleotide exchange factor complex GO:0032045 9.16 RASGRP3 RAP1A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10 RRAS RASGRP2 RASGRP1 RASA3 RAPGEF3 RAPGEF2
2 MAPK cascade GO:0000165 9.88 RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2
3 regulation of catalytic activity GO:0050790 9.8 RASGRP4 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP
4 intracellular signal transduction GO:0035556 9.76 RASGRP4 RASGRP3 RASGRP2 RASGRP1 RASA3 RAPGEF4
5 regulation of GTPase activity GO:0043087 9.73 RASGRP3 RASA3 RAP1GAP
6 Ras protein signal transduction GO:0007265 9.73 RRAS RASGRP3 RASGRP2 RASGRP1
7 regulation of insulin secretion GO:0050796 9.72 RAPGEF4 RAPGEF3 RAP1A
8 cellular response to cAMP GO:0071320 9.7 RAPGEF3 RAPGEF2 RAP1A
9 activation of phospholipase C activity GO:0007202 9.69 SELE RASGRP4 P2RY12
10 cAMP-mediated signaling GO:0019933 9.67 RAPGEF4 RAPGEF3 RAPGEF2
11 establishment of endothelial barrier GO:0061028 9.63 RAPGEF3 RAPGEF2 RAP1A
12 microvillus assembly GO:0030033 9.58 RAPGEF2 RAP1A
13 positive regulation of vasculogenesis GO:2001214 9.58 RRAS RAPGEF2 RAP1A
14 nerve growth factor signaling pathway GO:0038180 9.57 RAPGEF2 RAP1A
15 positive regulation of GTPase activity GO:0043547 9.56 RASGRP3 RASGRP2 RASGRP1 RASA3 RAPGEF3 RAPGEF2
16 regulation of cell junction assembly GO:1901888 9.54 RAPGEF2 RAP1A
17 Rap protein signal transduction GO:0032486 9.54 RAPGEF3 RAPGEF2 RAP1A
18 small GTPase mediated signal transduction GO:0007264 9.28 RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF4

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.83 RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
2 GTPase activity GO:0003924 9.71 RRAS RHOA RAP1GAP RAP1A
3 small GTPase binding GO:0031267 9.67 RASGRP3 RAPGEF4 RAP1GAP RAP1A
4 GTPase activator activity GO:0005096 9.62 RASGRP3 RASA3 RAPGEF2 RAP1GAP
5 GDP binding GO:0019003 9.43 RRAS RHOA RAP1A
6 diacylglycerol binding GO:0019992 9.35 RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
7 cAMP binding GO:0030552 9.33 RAPGEF4 RAPGEF3 RAPGEF2
8 guanyl-nucleotide exchange factor activity GO:0005085 9.28 RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3

Sources for Bleeding Disorder, Platelet-Type, 18

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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