P2Y12 defect

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT8
Bleeding disorder due to P2RY12 defect bleeding disorder due to P2RX1 defect, somatic, included
ADP platelet receptor P2Y12 defect
Bleeding disorder, platelet-type, 8
Number of Symptoms 9
OrphanetNr: 36355
OMIM Id: 609821
ICD-10: D69.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases - PMID: 20966167 [IBIS]
Inheritance: Autosomal recessive
- PMID: 20966167 [IBIS]
Age of onset: Childhood
- PMID: [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Rare hemorrhagic disorder due to a platelets receptors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001892) Abnormal bleeding 20966167; 27487748 IBIS 85 / 7739
2
 (HPO:0000421) Epistaxis 27487748; 25428217 IBIS 85 / 7739
3
 (HPO:0001934) Persistent bleeding after trauma 12578987; 20966167 IBIS 8 / 7739
4
 (HPO:0004846) Prolonged bleeding after surgery 20966167; 12578987; 27487748; 25428217 IBIS 2 / 7739
5
 (HPO:0003010) Prolonged bleeding time 20966167 IBIS 88 / 7739
6
 (HPO:0000978) Bruising susceptibility 27487748 IBIS 123 / 7739
7
 (HPO:0004866) Impaired ADP-induced platelet aggregation 20966167; 27487748 IBIS 4 / 7739
8
 (HPO:0008320) Impaired collagen-induced platelet aggregation 20966167 IBIS 4 / 7739
9
 (HPO:0011872) Impaired thrombin-induced platelet aggregation 20966167 IBIS 2 / 7739

Associated genes:

P2RY12;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Platelet-type bleeding disorder due to P2RY12 defects 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 ...
Clinical Description OMIM Cattaneo et al. (1992) reported a patient with a congenital defect of platelet function characterized by severe impairment of platelet response to ADP.

Nurden et al. (1995) studied a family in which ADP induced a small and ...
Molecular genetics OMIM In a patient with a bleeding disorder reported by Nurden et al. (1995), Hollopeter et al. (2001) identified a mutation in the P2RY12 gene (600515.0001).

In a patient with a congenital bleeding disorder, Cattaneo et al. (2003) ...