BDPLT8
MCID: BLD120
MIFTS: 26

Bleeding Disorder, Platelet-Type, 8 (BDPLT8)

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 8

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 8:

Name: Bleeding Disorder, Platelet-Type, 8 57 13
Bleeding Disorder Due to P2ry12 Defect 57 53 75 73
Adp Platelet Receptor P2y12 Defect 12 53 59
Platelet-Type Bleeding Disorder 8 12 29 6
P2y12 Defect 12 53 59
Bleeding Disorder, Platelet-Type 8 53 75
Bdplt8 57 75
Bleeding Disorder Due to P2rx1 Defect, Somatic 53
Adp Platelet Receptor P2y12 Deficiency 75
Bleeding Disorder, Platelet Type 8 40
P2ry12 Deficiency 75
P2y12 Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
p2y12 defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
excessive posttraumatic blood loss
excessive postsurgical blood loss


HPO:

32
bleeding disorder, platelet-type, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609821
Disease Ontology 12 DOID:0060692
ICD10 33 D69.8
Orphanet 59 ORPHA36355
ICD10 via Orphanet 34 D69.8
UMLS via Orphanet 74 C1853278
UMLS 73 C1853278

Summaries for Bleeding Disorder, Platelet-Type, 8

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 36355Disease definitionP2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.EpidemiologyTo date, 14 patients have been described in the world literature.Clinical descriptionP2Y12 defect is a congenital disorder that manifests by mildly to severely prolonged bleeding time, easy bruising, mucosal bleeding (epistaxis, gastric mucosa bleeding, gum bleeding, etc.), menorrhagia, and bleeding complications after trauma and minor or major surgery.EtiologyP2Y12 defect is caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. ADP activates platelets through its interaction with two G protein-coupled receptors, P2Y1 and P2Y12. The P2Y1 receptor mediates mobilization of ionized calcium and is responsible for ADP-induced shape change andweak and transient aggregation, while the P2Y12 receptor is responsible for the completion and amplification of the response to ADP and to all platelet agonists including thromboxane A2, thrombin, and collagen. P2Y12 receptor thus plays a central role in the formation and stabilization of a thrombus.Genetic counselingTransmission of P2Y12 deficiency is autosomal recessive. Genetic counseling should be offered to at-risk couples (where both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 8, also known as bleeding disorder due to p2ry12 defect, is related to brain ischemia and ischemia. An important gene associated with Bleeding Disorder, Platelet-Type, 8 is P2RY12 (Purinergic Receptor P2Y12). Affiliated tissues include bone and brain, and related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has material basis in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.

OMIM : 57 Platelet-type bleeding disorder-8 is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011). (609821)

UniProtKB/Swiss-Prot : 75 Bleeding disorder, platelet-type 8: A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation.

Related Diseases for Bleeding Disorder, Platelet-Type, 8

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 8

Symptoms via clinical synopsis from OMIM:

57
Hematology:
abnormal bleeding
hemorrhage
platelets show impaired aggregation in response to adp
platelets fail to inhibit the rise of camp levels in response to adp
platelets may show reduced adp binding activity
more
Skin Nails Hair Skin:
easy bruisability
ecchymoses

Head And Neck Nose:
epistaxis


Clinical features from OMIM:

609821

Human phenotypes related to Bleeding Disorder, Platelet-Type, 8:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 HP:0000978
3 prolonged bleeding after surgery 32 HP:0004846
4 persistent bleeding after trauma 32 HP:0001934
5 ecchymosis 32 HP:0031364
6 impaired adp-induced platelet aggregation 32 HP:0004866

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 8

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 8

Genetic Tests for Bleeding Disorder, Platelet-Type, 8

Genetic tests related to Bleeding Disorder, Platelet-Type, 8:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 8 29 P2RY12

Anatomical Context for Bleeding Disorder, Platelet-Type, 8

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 8:

41
Bone, Brain

Publications for Bleeding Disorder, Platelet-Type, 8

Articles related to Bleeding Disorder, Platelet-Type, 8:

# Title Authors Year
1
Microglial P2Y12 deficiency/inhibition protects against brain ischemia. ( 23940669 )
2013
2
Impaired platelet function in a patient with P2Y12 deficiency caused by a mutation in the translation initiation codon. ( 16194207 )
2005

Variations for Bleeding Disorder, Platelet-Type, 8

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 8:

75
# Symbol AA change Variation ID SNP ID
1 P2RY12 p.Arg256Gln VAR_025383 rs121917885
2 P2RY12 p.Arg265Trp VAR_025384 rs121917886
3 P2RY12 p.His187Gln VAR_072802

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 P2RX1 NM_002558.3(P2RX1): c.1059_1061delGCT (p.Leu354del) deletion Uncertain significance rs587776702 GRCh37 Chromosome 17, 3801376: 3801378
2 P2RX1 NM_002558.3(P2RX1): c.1059_1061delGCT (p.Leu354del) deletion Uncertain significance rs587776702 GRCh38 Chromosome 17, 3898082: 3898084
3 P2RY12 NM_022788.4: c.717_718delCA deletion Pathogenic
4 P2RY12 NM_022788.4(P2RY12): c.767G> A (p.Arg256Gln) single nucleotide variant Pathogenic rs121917885 GRCh37 Chromosome 3, 151055867: 151055867
5 P2RY12 NM_022788.4(P2RY12): c.767G> A (p.Arg256Gln) single nucleotide variant Pathogenic rs121917885 GRCh38 Chromosome 3, 151338079: 151338079
6 P2RY12 NM_022788.4(P2RY12): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs121917886 GRCh37 Chromosome 3, 151055841: 151055841
7 P2RY12 NM_022788.4(P2RY12): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs121917886 GRCh38 Chromosome 3, 151338053: 151338053
8 P2RY12 NM_176876.2(P2RY12): c.794G> C (p.Arg265Pro) single nucleotide variant Pathogenic rs755459581 GRCh37 Chromosome 3, 151055840: 151055840
9 P2RY12 NM_176876.2(P2RY12): c.794G> C (p.Arg265Pro) single nucleotide variant Pathogenic rs755459581 GRCh38 Chromosome 3, 151338052: 151338052

Expression for Bleeding Disorder, Platelet-Type, 8

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 8.

Pathways for Bleeding Disorder, Platelet-Type, 8

GO Terms for Bleeding Disorder, Platelet-Type, 8

Sources for Bleeding Disorder, Platelet-Type, 8

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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