ORPHA:325
Congenital factor II deficiency
Synonyms: Dysprothrombinemia · Hypoprothrombinemia · Prothrombin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor II deficiency | Dysprothrombinemia · Hypoprothrombinemia · Prothrombin deficiency |
| fr | Déficit congénital en facteur II | Dysprothrombinémie · Déficit en prothrombine · Hypoprothrombinémie |
| de | Faktor II-Mangel, kongenitaler | Dysprothrombinämie · Hypoprothrombinämie · Prothrombin-Mangel |
| es | Deficiencia congénita del factor II | |
| it | Deficit congenito del fattore II | Deficit di protrombina · Disprotrombinemia · Ipoprotrombinemia |
| nl | Congenitale factor II-deficiëntie | Congenitale factor 2-deficiëntie · Dysprotrombinemie · Hypoprotrombinemie · Protrombinedeficiëntie |
| pt | Deficiência de fator II congénita | Deficiência de protrombina · Disprotrombinemia · Hipoprotrombinemia |
| pl | Wrodzony Niedobór czynnika II | Dysprotrombinemia · Hipoprothrombinemia · Niedobór protrombiny |
| cs | Vrozený deficit faktoru II | Dysprotrombinémie · Hypoprotrombinémie · Deficit protrombinu |
| uk | Вроджений дефіцит фактора II | Диспротромбінемія · Гіпопротромбінемія · Дефіцит протромбіну |
| zh | 先天性II因子缺乏症 | 凝血酶原缺乏 |
| tr | Doğumsal faktör II eksikliği | Disprotrombinemi · Hipoprotrombinemi · Protrombin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613679 | E | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | index | validated |
| MONDO | 0013361 | E | validated | |
| UMLS | C0272317 | E | validated | |
| GARD | 2926 | E | validated | |
| MedDRA | 10016076 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:169826Congenital vitamin K-dependent coagulation factors deficiency
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3535 | ENSG00000180210 | 176930 | 11p11.2 | coagulation factor II, thrombin | 25242243[PMID]_23852823[PMID]_20301327[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | 10595621[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.
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HPO phenotypes
21 annotations · validated 2019-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0040250 | Reduced prothrombin antigen | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000421 | Epistaxis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0005261 | Joint hemorrhage | |
| Occasional (29-5%) | ||
| HP:0011884 | Abnormal umbilical stump bleeding | |
| HP:0001903 | Anemia | |
| HP:0012541 | Cephalohematoma | |
| HP:0030138 | Excessive bleeding from superficial cuts | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0000132 | Menorrhagia | |
| HP:0002907 | Microscopic hematuria | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| HP:0011890 | Prolonged bleeding following procedure | |
| Excluded (0%) | ||
| HP:0004420 | Arterial thrombosis | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28222949[PMID]_23190616[PMID]_19412729[PMID]_28762299[PMID]_7740448[PMID]_14489469[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/325
- This record as JSON: /data/d/325.json