Familial thrombomodulin anomalies
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial thrombomodulin anomalies | |
| fr | Anomalies de la thrombomoduline | |
| de | Thrombomodulin-Anomalie, genetisch bedingte | Thrombomodulin-Anomalie, familiäre |
| es | Anomalías familiares de la trombomodulina | |
| it | Anomalie familiari della trombomodulina | |
| nl | Familiale trombomoduline-anomalieën | |
| pt | Anomalias da trombomodulina familiares | |
| pl | Rodzinne defekty trombomoduliny | |
| cs | Familiární anomálie v trombomodulinu | |
| uk | Сімейні аномалії тромбомодуліну | |
| zh | 家族性血栓调节蛋白异常 | |
| tr | ailesel trombomodülin anomalileri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B61.0Y | NTBT | index | validated |
| MONDO | 0018047 | E | validated | |
| MeSH | C536900 | E | validated | |
| UMLS | C2931365 | E | validated | |
| GARD | 5195 | 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:248361Rare thrombotic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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/3324
- This record as JSON: /data/d/3324.json