Bleeding disorder due to P2Y12 defect
Synonyms: Bleeding disorder due to ADP platelet receptor P2Y12 defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
P2Y12 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bleeding disorder due to P2Y12 defect | Bleeding disorder due to ADP platelet receptor P2Y12 defect |
| fr | Troubles hémorragiques par anomalie du récepteur P2Y12 | Troubles hémorragiques par anomalie du récepteur plaquettaire P2Y12 de l'ADP |
| de | Blutgerinnungsstörung durch P2Y12-Defekt | Blutgerinnungsstörung durch P2Y12-ADP-Rezeptor-Defekt |
| es | Trastorno de sangrado por un defecto de P2Y12 | Trastorno de sangrado por un defecto del receptor plaquetario de ADP P2Y12 |
| it | Deficit di P2Y12 | Deficit del recettore piastrinico di ADP P2Y12 |
| nl | Bloedingsstoornis door P2Y12-defect | Bloedingsstoornis door ADP-bloedplaatjesreceptor P2Y12-defect |
| pt | Doença hemorrágica por defeito de P2Y12 | Doença hemorrágica por defeito do recetor plaquetário do ADP P2Y12 |
| pl | Zaburzenie krzepnięcia wywołane uszkodzeniem P2Y12 | Niedobór ADP receptora płytkowego P2Y12 |
| cs | Defekt P2Y12 | Defekt destičkového receptoru P2Y12 pro ADP |
| uk | Порушення кровотворення через дефект P2Y12 | Порушення згортання крові через дефект P2Y12 рецептора тромбоцитів до АДФ |
| zh | P2Y12缺乏所致出血 | ADP血小板受体P2Y12缺陷所致出血性疾病 |
| tr | P2Y12 defektine bağlı kanama bozukluğu | ADP trombosit reseptörü P2Y12 defektine bağlı kanama bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609821 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0012354 | E | validated | |
| UMLS | C4510945 | E | validated | |
| GARD | 12478 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| P2RY12 | Disease-causing germline mutation(s) in | Assessed | HGNC:18124 | ENSG00000169313 | 600515 | 3q25.1 | purinergic receptor P2Y12 | 11196645[PMID]_12578987[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 15852220[PMID]_19229056[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36355
- This record as JSON: /data/d/36355.json