Macrothrombocytopenia with mitral valve insufficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrothrombocytopenia with mitral valve insufficiency | |
| fr | Macrothrombocytopenie avec insuffisance mitrale | |
| de | Makrothrombozytopenie mit Mitralklappeninsuffizienz | |
| es | Macrotrombocitopenia con insuficiencia mitral | |
| it | Macrotrombocitopenia con insufficienza della valvola mitrale | |
| nl | Macrotrombocytopenie met mitralisklepinsufficiëntie | |
| pt | Macrotrombocitopenia com insuficiência da válvula mitral | |
| pl | Makrotrombocytopenia z niewydolnością zastawki mitralnej | |
| cs | Makrotrombocytopenie s mitrální insuficiencí | |
| uk | Макротромбоцитопенія при недостатності мітрального клапана | |
| zh | 巨血小板减少症伴二尖瓣关闭不全 | |
| tr | Mitral kapak yetmezliği ile birlikte makro trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B62.01 | NTBT | index | validated |
| MONDO | 0016360 | E | validated | |
| UMLS | C4749648 | 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:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 9482416[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9482416[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/220448
- This record as JSON: /data/d/220448.json