Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Synonyms: PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency |
| fr | Maladie hémorragique par déficit en phospholipase-A2 alpha cytosolique | Anomalie plaquettaire associée à PLA2G4A |
| de | Blutungskrankheit mit assoziiertem Mangel der zytosolischen Phospholipase-A2 alpha | PLA2G4A-abhängige Plättchendysfunktion · Plättchendysfunktion durch zytosolischen Phospholipase-A2 alpha-Mangel |
| es | Trastorno de sangrado asociado a una deficiencia de fosfolipasa A2 alfa citosólica | Disfunción plaquetaria asociada al gen PLA2G4A · Disfunción plaquetaria por deficiencia de fosfolipasa-A2 alfa citosólica |
| it | Malattia emorragica associata al deficit di fosfolipasi A2 alfa citosolica | |
| nl | Bloedingsziekte geassocieerd met deficiëntie van cytosolisch fosfolipase-A2-alfa | Bloedplaatjesdisfunctie door deficiëntie van cytosolisch fosfolipase-A2-alfa · PLA2G4A-gerelateerde bloedplaatjesdisfunctie |
| pt | Alteração hemorrágica associada a défice de fosfolipase-A2 alfa citosólica | |
| pl | Zaburzenia krzepnięcia związane z niedoborem cytozolowej fosfolipazy A2 alfa | Dysfunkcja płytek spowodowana niedoborem cytozolowej fosfolipazy A2 alfa · Dysfunkcja płytek związana z plA2G4A |
| cs | Deficit cytosolické fosfolipázy A2 alfa spojený s krvácivostí | PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency · Dysfunkce destiček související s PLA2G4A · Dysfunkce krevních destiček způsobená deficitem cytosolické fosfolipázy-A2 alfa |
| uk | Дефіцит цитозольної фосфоліпази-А2 альфа, асоційований з кровотечею | Дисфункція тромбоцитів, повязана з PLA2G4A · Дисфункція тромбоцитів внаслідок дефіциту цитозольної фосфоліпази-А2 альфа |
| zh | 胞质磷脂酶-A2α缺乏相关的出血性疾病 | PLAG4A相关的血小板功能障碍 |
| tr | Sitozolik fosfolipaz-A2 alfa eksikliği -ilişkili kanama bozukluğu | Sitosolik fosfolipaz-A2 alfa eksikliğine bağlı trombosit disfonksiyonu · PLA2G4A-ilişkili trombosit disfonksiyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618372 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.00 | NTBT | attributed | validated |
| MONDO | 0018794 | E | validated | |
| UMLS | C5567651 | 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 (3):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLA2G4A | Disease-causing germline mutation(s) in | Assessed | HGNC:9035 | ENSG00000116711 | 600522 | 1q31.1 | phospholipase A2 group IVA | 25102815[PMID]_18451993[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25102815[PMID]_18451993[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25102815[PMID]_18451993[PMID] |
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/477787
- This record as JSON: /data/d/477787.json