BDPLT8
MCID: BLD120
MIFTS: 35

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 20 72 70
Platelet-Type Bleeding Disorder 8 12 29 6 15
Bleeding Disorder Due to Adp Platelet Receptor P2y12 Defect 20 58
Bleeding Disorder Due to P2y12 Defect 20 58
Adp Platelet Receptor P2y12 Defect 12 20
Bleeding Disorder, Platelet-Type 8 20 72
P2y12 Defect 12 20
Bdplt8 57 72
Bleeding Disorder Due to P2rx1 Defect, Somatic 20
Adp Platelet Receptor P2y12 Deficiency 72
Bleeding Disorder, Platelet Type 8 39
P2ry12 Deficiency 72
P2y12 Deficiency 72

Characteristics:

Orphanet epidemiological data:

58
bleeding disorder due to p2y12 defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
excessive posttraumatic blood loss
excessive postsurgical blood loss


HPO:

31
bleeding disorder, platelet-type, 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060692
OMIM® 57 609821
OMIM Phenotypic Series 57 PS231200
ICD10 32 D69.8
ICD10 via Orphanet 33 D69.8
UMLS via Orphanet 71 C1853278
Orphanet 58 ORPHA36355
UMLS 70 C1853278

Summaries for Bleeding Disorder, Platelet-Type, 8

GARD : 20 Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is very rare and it's not clear how it changes over time. Bleeding disorder due to a P2RY12 defect occur due to a variant in the P2RY12 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of specialized laboratory testing. Treatment is focused on managing the symptoms, and may involve blood transfusions, and/or medications that help the blood clot.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 8, also known as bleeding disorder due to p2ry12 defect, is related to nizon-isidor syndrome and ichthyosis, congenital, autosomal recessive 7. An important gene associated with Bleeding Disorder, Platelet-Type, 8 is P2RY12 (Purinergic Receptor P2Y12), and among its related pathways/superpathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and HETE and HPETE biosynthesis and metabolism. Related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 A blood platelet 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13 Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9 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
Bleeding Disorder, Platelet-Type, 22 Bleeding Disorder, Platelet-Type, 24

Diseases related to Bleeding Disorder, Platelet-Type, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 nizon-isidor syndrome 10.2 P2RY12 MED12L
2 ichthyosis, congenital, autosomal recessive 7 10.0 ALOXE3 ALOX12B
3 ichthyosis, congenital, autosomal recessive 2 10.0 ALOXE3 ALOX12B
4 x-linked chondrodysplasia punctata 2 10.0 ALOXE3 ALOX12B
5 ichthyosis, congenital, autosomal recessive 1 10.0 ALOXE3 ALOX12B
6 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9 ALOXE3 ALOX12B
7 ectropion 9.9 ALOXE3 ALOX12B
8 ichthyosis, x-linked 9.9 ALOXE3 ALOX12B
9 anxiety 9.9
10 hemorrhagic disease 9.9
11 carotid artery occlusion 9.9
12 eyelid disease 9.9 ALOXE3 ALOX12B
13 ichthyosis, congenital, autosomal recessive 4b 9.8 ALOXE3 ALOX12B
14 ichthyosis vulgaris 9.8 ALOXE3 ALOX12B
15 ichthyosis 9.7 ALOXE3 ALOX15B ALOX12B
16 autosomal recessive congenital ichthyosis 9.6 ALOXE3 ALOX15B ALOX12B
17 bernard-soulier syndrome 9.6 P2RY12 GP1BB

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 8:



Diseases related to Bleeding Disorder, Platelet-Type, 8

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 persistent bleeding after trauma 31 HP:0001934
4 prolonged bleeding after surgery 31 HP:0004846
5 ecchymosis 31 HP:0031364
6 impaired adp-induced platelet aggregation 31 HP:0004866

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
ecchymoses
easy bruisability

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

Clinical features from OMIM®:

609821 (Updated 20-May-2021)

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

Publications for Bleeding Disorder, Platelet-Type, 8

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

# Title Authors PMID Year
1
The platelet P2Y₁₂ receptor for adenosine diphosphate: congenital and drug-induced defects. 57 6
20966167 2011
2
Identification of the platelet ADP receptor targeted by antithrombotic drugs. 57 6
11196645 2001
3
An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on glycoprotein IIb-IIIa complex function. 57 6
7706468 1995
4
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. 57
12578987 2003
5
Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate. 57
1333302 1992
6
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders. 61
25899604 2015

Variations for Bleeding Disorder, Platelet-Type, 8

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED12L , P2RY12 NM_053002.5(MED12L):c.2146-11931_2146-11930del Deletion Pathogenic 9081 rs1560045738 GRCh37: 3:151055916-151055917
GRCh38: 3:151338128-151338129
2 MED12L , P2RY12 NM_053002.5(MED12L):c.2146-11980C>T SNV Pathogenic 9082 rs121917885 GRCh37: 3:151055867-151055867
GRCh38: 3:151338079-151338079
3 MED12L , P2RY12 NM_053002.5(MED12L):c.2146-12006G>A SNV Pathogenic 9083 rs121917886 GRCh37: 3:151055841-151055841
GRCh38: 3:151338053-151338053
4 MED12L , P2RY12 NM_176876.3(P2RY12):c.794G>C (p.Arg265Pro) SNV Pathogenic 548443 rs755459581 GRCh37: 3:151055840-151055840
GRCh38: 3:151338052-151338052
5 P2RX1 NM_002558.4(P2RX1):c.1053_1055GCT[2] (p.Leu354del) Microsatellite Uncertain significance 8750 rs587776702 GRCh37: 17:3801376-3801378
GRCh38: 17:3898082-3898084

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

72
# 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

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

Pathways related to Bleeding Disorder, Platelet-Type, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.86 P2RY12 GP1BB
2
Show member pathways
10.39 ALOX15B ALOX12B
3 9.98 ALOXE3 ALOX12B

GO Terms for Bleeding Disorder, Platelet-Type, 8

Biological processes related to Bleeding Disorder, Platelet-Type, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sphingolipid metabolic process GO:0006665 9.46 ALOXE3 ALOX12B
2 hemostasis GO:0007599 9.43 P2RY12 GP1BB
3 arachidonic acid metabolic process GO:0019369 9.43 ALOXE3 ALOX15B ALOX12B
4 ceramide biosynthetic process GO:0046513 9.4 ALOXE3 ALOX12B
5 establishment of skin barrier GO:0061436 9.37 ALOXE3 ALOX12B
6 linoleic acid metabolic process GO:0043651 9.33 ALOXE3 ALOX15B ALOX12B
7 lipid oxidation GO:0034440 9.32 ALOX15B ALOX12B
8 lipoxygenase pathway GO:0019372 9.13 ALOXE3 ALOX15B ALOX12B
9 hepoxilin biosynthetic process GO:0051122 8.8 ALOXE3 ALOX15B ALOX12B

Molecular functions related to Bleeding Disorder, Platelet-Type, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 ALOXE3 ALOX15B ALOX12B
2 dioxygenase activity GO:0051213 9.33 ALOXE3 ALOX15B ALOX12B
3 linoleate 9S-lipoxygenase activity GO:1990136 8.96 ALOX15B ALOX12B
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.8 ALOXE3 ALOX15B ALOX12B

Sources for Bleeding Disorder, Platelet-Type, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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