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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

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: ⁵⁹

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 615888

Disease Ontology ¹² DOID:0111051

ICD10 ³³ D69.1

Orphanet ⁵⁹ ORPHA420566

ICD10 via Orphanet ³⁴ D69.1

MedGen ⁴² C4014584 CN189800

MeSH ⁴⁴ D001791 D006470

SNOMED-CT via HPO ⁶⁹ 258211005 12441001 249366005

UMLS ⁷³ C4014584

Sources

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

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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

Sources

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

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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 ²⁹	RASGRP2

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Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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

⁴¹

Bone

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Publications for Bleeding Disorder, Platelet-Type, 18

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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	1728.42	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	24958846

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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

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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 GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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