Congenital factor XII deficiency
Synonyms: Congenital Hageman factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor XII deficiency | Congenital Hageman factor deficiency |
| fr | Déficit congénital en facteur XII | Déficit congénital en facteur Hageman |
| de | Faktor XII-Mangel, kongenitaler | Hageman-Faktor-Mangel, kongenitaler · Hageman-Syndrom |
| es | Deficiencia congénita de factor XII | Deficiencia congénita de factor Hageman |
| it | Deficit congenito del fattore XII | Deficit congenito del fattore di Hageman |
| nl | Congenitale factor XII-deficiëntie | Congenitale Hageman-factordeficiëntie · Congenitale factor 12-deficiëntie |
| pt | Deficiência de fator XII congénita | Deficiência de fator de Hagemann |
| pl | Wrodzony Niedobór czynnika XII | Wrodzony Niedobór czynnika Hagemana |
| cs | Vrozený deficit faktoru XII | Vrozený deficit Hagemanova faktoru |
| uk | Вроджений дефіцит фактора XII | Вроджений дефіцит фактора Хагемана |
| zh | 先天性XII因子缺乏症 | 先天性Hageman因子缺乏症 |
| tr | Doğumsal faktör XII eksikliği | Doğumsal Hageman faktör eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234000 | E | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B15 | NTBT | index | validated |
| MONDO | 0009315 | E | validated | |
| MeSH | D005175 | E | validated | |
| UMLS | C0015526 | E | validated | |
| GARD | 6558 | E | validated | |
| MedDRA | 10051806 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F12 | Disease-causing germline mutation(s) in | Assessed | HGNC:3530 | ENSG00000131187 | 610619 | 5q35.3 | coagulation factor XII | 20386432[PMID]_22043782[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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 2021-07-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0004841 | Reduced factor XII activity | |
| Occasional (29-5%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0200067 | Recurrent spontaneous abortion | |
| HP:0007985 | Retinal arteriolar occlusion | |
| HP:0012636 | Retinal vein occlusion | |
| HP:0001907 | Thromboembolism | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001026 | Penetrating foot ulcers | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15013868[PMID]_24597288[PMID]_1905067[PMID]_23492916[PMID]_22043782[PMID]_26709783[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/330
- This record as JSON: /data/d/330.json