Hereditary thrombophilia due to congenital antithrombin deficiency
Synonyms: Hereditary thrombophilia due to congenital antithrombin 3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary thrombophilia due to congenital antithrombin deficiency | Hereditary thrombophilia due to congenital antithrombin 3 deficiency |
| fr | Thrombophilie héréditaire due au déficit congénital en antithrombine | Thrombophilie héréditaire due au déficit congénital en antithrombine 3 |
| de | Hereditäre Thrombophilie durch kongenitalen Antithrombin-Mangel | Hereditäre Thrombophilie durch kongenitalen Antithrombin 3-Mangel |
| es | Trombofilia hereditaria por deficiencia congénita de antitrombina | Trombofilia hereditaria por deficiencia congénita de antitrombina 3 |
| it | Trombofilia ereditaria da deficit congenito di antitrombina | Trombofilia ereditaria da deficit congenito di antitrombina 3 |
| nl | Erfelijke trombofilie als gevolg van congenitale antitrombinedeficiëntie | Erfelijke trombofilie als gevolg van congenitale antitrombine 3-deficiëntie |
| pt | Trombofilia hereditária por deficiência de antitrombina congénita | |
| pl | Dziedziczna małopłytkowość z powodu wrodzonego niedoboru antytrombiny | Dziedziczna trombofilia spowodowana wrodzonym niedoborem antytrombiny 3 |
| cs | Hereditární trombofilie způsobená vrozeným nedostatkem antithrombinu | Hereditární trombofilie způsobená vrozeným nedostatkem antithrombinu III |
| uk | Спадкова тромбофілія внаслідок вродженого дефіциту антитромбіну | Спадкова тромбофілія внаслідок вродженого дефіциту антитромбіну 3 |
| zh | 遗传性抗凝血酶缺乏所致遗传性易栓症 | 遗传性抗凝血酶缺乏所致遗传性易栓症 |
| tr | Doğumsal antitrombin eksikliğine bağlı kalıtsal trombofili | Doğumsal antitrombin 3 eksikliğine bağlı kalıtsal trombofili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613118 | E | validated | |
| ICD-10 | D68.5 | NTBT | inclusion | validated |
| ICD-11 | 3B61.0Y | NTBT | index | validated |
| MONDO | 0013144 | E | validated | |
| MONDO | 13144 | E | validated | |
| UMLS | C2586031 | E | validated | |
| GARD | 6148 | 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 (2):
- ORPHA:217454Rare hereditary thrombophilia
rare genetic diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare bone diseases - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:775 | ENSG00000117601 | 107300 | 1q25.1 | serpin family C member 1 | 24684277[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | 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
15 annotations · validated 2019-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0040246 | Reduced antithrombin antigen | |
| Frequent (79-30%) | ||
| HP:0002625 | Deep venous thrombosis | |
| HP:0031437 | Pregnancy exposure | |
| HP:0002204 | Pulmonary embolism | |
| HP:0004831 | Recurrent thromboembolism | |
| HP:0002638 | Superficial thrombophlebitis | |
| Occasional (29-5%) | ||
| HP:0004420 | Arterial thrombosis | |
| HP:0030243 | Hepatic vein thrombosis | |
| HP:0030248 | Mesenteric venous thrombosis | |
| HP:0030242 | Portal vein thrombosis | |
| HP:0200067 | Recurrent spontaneous abortion | |
| HP:0012636 | Retinal vein occlusion | |
| HP:0005268 | Spontaneous abortion | |
| Very rare (<4-1%) | ||
| HP:0005305 | Cerebral venous thrombosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24684277[PMID]_31175794[PMID]_29784539[PMID]_19141163[PMID]_10377836[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/82
- This record as JSON: /data/d/82.json