Congenital factor XI deficiency
Synonyms: Hemophilia C · PTA deficiency · Plasma thromboplastin antecedent deficiency · Rosenthal factor deficiency · Rosenthal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor XI deficiency | Hemophilia C · PTA deficiency · Plasma thromboplastin antecedent deficiency · Rosenthal factor deficiency · Rosenthal syndrome |
| fr | Déficit congénital en facteur XI | Déficit en PTA · Déficit en facteur Rosenthal · Déficit en précurseur de la thromboplastine plasmatique · Hémophilie C · Syndrome de Rosenthal |
| de | Faktor XI-Mangel, kongenitaler | Hämophilie C · Plasma-Thromboplasmin-Antecedent (PTA)-Mangel · Rosenthal-Faktor-Mangel · Rosenthal-Syndrom |
| es | Deficiencia congénita del factor XI | Deficiencia del antecedente de la tromboplastina plasmática (PTA) · Deficiencia del factor Rosenthal · Hemofilia C · Síndrome de Rosenthal |
| it | Deficit congenito del fattore XI | Deficit del fattore di Rosenthal · Deficit dell'antecedente plasmatico della tromboplastina (PTA) · Emofilia C · Sindrome di Rosenthal |
| nl | Congenitale factor XI-deficiëntie | Congenitale factor 11-deficiëntie · Hemofilie C · PTA-deficiëntie · Plasmatromboplastine-antecedentdeficiëntie · Rosenthalfactordeficiëntie · Rosenthalsyndroom |
| pt | Deficiência de fator XI congénita | |
| pl | Wrodzony Niedobór czynnika XI | Hemofilia C · Niedobór czynnika przeciwhemofilowego C · Niedobór czynnika Rosenthala · Niedobór PTA · Zespół Rosenthala |
| cs | Vrozený nedostatek faktoru XI | Hemofilie C · PTA deficit |
| uk | Вроджений дефіцит фактора XI | Гемофілія С · Попередній дефіцит тромбопластину плазми · Дефіцит PTA · Дефіцит фактора Розенталя · Синдром Розенталя |
| zh | 先天性XI因子缺乏 | 血浆促凝血酶原激酶前体缺失症 |
| tr | Doğumsal faktör XI eksikliği | Hemofili C · PTA eksikliği · Rosenthal sendromu · Rosenthal faktör eksikliği · Plazma tromboplastin antesedan eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612416 | E | validated | |
| ICD-10 | D68.1 | E | specific | validated |
| ICD-11 | 3B13 | E | specific | validated |
| MONDO | 0012897 | E | validated | |
| MeSH | D005173 | E | validated | |
| UMLS | C0015523 | E | validated | |
| GARD | 9670 | E | validated | |
| MedDRA | 10016082 | 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:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F11 | Disease-causing germline mutation(s) in | Assessed | HGNC:3529 | ENSG00000088926 | 264900 | 4q35.2 | coagulation factor XI | 18312365[PMID]_22159456[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Not yet 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
9 annotations · validated 2017-06-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0010989 | Abnormality of the intrinsic pathway | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0001929 | Reduced factor XI activity | |
| Frequent (79-30%) | ||
| HP:0000421 | Epistaxis | |
| HP:0000132 | Menorrhagia | |
| Very rare (<4-1%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0005261 | Joint hemorrhage | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 27216469[PMID]_1952475[PMID]_27710856[PMID]_19141157[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329
- This record as JSON: /data/d/329.json