BDPLT18
MCID: BLD126
MIFTS: 20

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 58 74
Platelet-Type Bleeding Disorder 18 12 30 6 15
Bdplt18 58 12 76
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency 12 60
Bleeding Disorder Due to Caldag-Gefi Deficiency 12 60
Bleeding Disorder, Platelet-Type 18 76
Bleeding Disorder, Platelet Type 18 41

Characteristics:

Orphanet epidemiological data:

60
bleeding disorder due to caldag-gefi deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bleeding disorder, platelet-type, 18:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111051
OMIM 58 615888
ICD10 34 D69.1
ICD10 via Orphanet 35 D69.1
Orphanet 60 ORPHA420566
SNOMED-CT via HPO 70 12441001 249366005 258211005
UMLS 74 C4014584

Summaries for Bleeding Disorder, Platelet-Type, 18

Disease Ontology : 12 An inherited blood coagulation 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, is also known as platelet-type bleeding disorder 18. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2). Affiliated tissues include bone, and related phenotypes are epistaxis and prolonged bleeding time

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 615888

Related Diseases for Bleeding Disorder, Platelet-Type, 18

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

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

33
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 prolonged bleeding time 33 HP:0003010
3 impaired platelet aggregation 33 HP:0003540

Symptoms via clinical synopsis from OMIM:

58
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

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 30 RASGRP2

Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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

42
Bone

Publications for Bleeding Disorder, Platelet-Type, 18

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

# Title Authors Year
1
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. ( 24958846 )
2014

Variations for Bleeding Disorder, Platelet-Type, 18

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RASGRP2 NM_153819.1(RASGRP2): c.742G> T (p.Gly248Trp) single nucleotide variant Pathogenic rs587777529 GRCh38 Chromosome 11, 64739431: 64739431
2 RASGRP2 NM_153819.1(RASGRP2): c.742G> T (p.Gly248Trp) single nucleotide variant Pathogenic rs587777529 GRCh37 Chromosome 11, 64506903: 64506903
3 RASGRP2 NM_153819.1(RASGRP2): c.1480dupC (p.Arg494Profs) duplication Likely pathogenic rs1555122100 GRCh38 Chromosome 11, 64730127: 64730127
4 RASGRP2 NM_153819.1(RASGRP2): c.1480dupC (p.Arg494Profs) duplication Likely pathogenic rs1555122100 GRCh37 Chromosome 11, 64497599: 64497599
5 RASGRP2 NM_153819.1(RASGRP2): c.542T> C (p.Phe181Ser) single nucleotide variant Uncertain significance rs1060499609 GRCh38 Chromosome 11, 64739790: 64739790
6 RASGRP2 NM_153819.1(RASGRP2): c.542T> C (p.Phe181Ser) single nucleotide variant Uncertain significance rs1060499609 GRCh37 Chromosome 11, 64507262: 64507262

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

GO Terms for Bleeding Disorder, Platelet-Type, 18

Sources for Bleeding Disorder, Platelet-Type, 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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