BDPLT18
MCID: BLD126
MIFTS: 19

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 73
Platelet-Type Bleeding Disorder 18 12 29 6
Bdplt18 57 12 75
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency 12 59
Bleeding Disorder Due to Caldag-Gefi Deficiency 12 59
Bleeding Disorder, Platelet-Type 18 75
Bleeding Disorder, Platelet Type 18 40

Characteristics:

Orphanet epidemiological data:

59
bleeding disorder due to caldag-gefi deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bleeding disorder, platelet-type, 18:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615888
Disease Ontology 12 DOID:0111051
ICD10 33 D69.1
Orphanet 59 ORPHA420566
ICD10 via Orphanet 34 D69.1
SNOMED-CT via HPO 69 258211005 12441001 249366005
UMLS 73 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 prolonged bleeding time 32 HP:0003010
3 impaired platelet aggregation 32 HP:0003540

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

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

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 18

Variations for Bleeding Disorder, Platelet-Type, 18

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

75
# 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 GRCh38 Chromosome 11, 64730127: 64730127
4 RASGRP2 NM_153819.1(RASGRP2): c.1480dupC (p.Arg494Profs) duplication Likely pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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