Bleeding Disorder, Platelet-Type, 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

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: ⁶⁰

Rare haematological diseases

External Ids:

Disease Ontology ¹² DOID:0111051

OMIM ⁵⁸ 615888

MeSH ⁴⁵ D001791 D006470

ICD10 ³⁴ D69.1

ICD10 via Orphanet ³⁵ D69.1

Orphanet ⁶⁰ ORPHA420566

MedGen ⁴³ C4014584 CN189800

SNOMED-CT via HPO ⁷⁰ 12441001 249366005 258211005

UMLS ⁷⁴ C4014584

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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

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Related Diseases for Bleeding Disorder, Platelet-Type, 18

Diseases in the Bleeding Disorder, Platelet-Type, 8 family:

Bleeding Disorder, Platelet-Type, 16	Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12	Bleeding Disorder, Platelet-Type, 13
Bleeding Disorder, Platelet-Type, 14	Bleeding Disorder, Platelet-Type, 9
Bleeding Disorder, Platelet-Type, 11	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

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

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

³³

#	Description	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

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

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

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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

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Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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

⁴²

Bone

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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 )	Canault M...Tregouet DA	2014

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Genes for Bleeding Disorder, Platelet-Type, 18

Genes related to Bleeding Disorder, Platelet-Type, 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1736.03	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24958846
2	WDTC1	WD And Tetratricopeptide Repeats 1	Protein Coding	4.71	DISEASES inferred ¹⁵

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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

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Expression for Bleeding Disorder, Platelet-Type, 18

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

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Pathways for Bleeding Disorder, Platelet-Type, 18

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GO Terms for Bleeding Disorder, Platelet-Type, 18

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Sources for Bleeding Disorder, Platelet-Type, 18

¹ BioSystems

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⁹ Cosmic

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²⁰ FMA

²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bleeding Disorder, Platelet-Type, 18

Related Diseases for Bleeding Disorder, Platelet-Type, 18

Diseases in the Bleeding Disorder, Platelet-Type, 8 family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Genetic Tests for Bleeding Disorder, Platelet-Type, 18

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

Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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

Publications for Bleeding Disorder, Platelet-Type, 18

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

Genes for Bleeding Disorder, Platelet-Type, 18

Genes related to Bleeding Disorder, Platelet-Type, 18 (1 elite genes):

Variations for Bleeding Disorder, Platelet-Type, 18

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

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

Expression 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