Congenital factor XIII deficiency
Synonyms: Fibrin-stabilizing factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
A rare inherited bleeding disorder due to reduced coagulation factor XIII (FXIII) activity level and characterized by hemorrhagic diathesis, frequently associated with spontaneous abortions and defective wound healing. The disease may manifest at any age, but the most severe and life-threatening symptoms such as post-birth umbilical cord bleeding, cephalohematoma, and intracranial hemorrhage, manifest during the neonatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital factor XIII deficiency | Fibrin-stabilizing factor deficiency |
| fr | Déficit congénital en facteur XIII | Déficit en facteur stabilisant de la fibrine |
| de | Faktor XIII-Mangel, kongenitaler | Fibrinstabilisierender Faktor-Mangel |
| es | Deficiencia congénita del factor XIII | |
| it | Deficit congenito del fattore XIII | Deficit del fattore stabilizzante la fibrina |
| nl | Congenitale factor XIII-deficiëntie | Congenitale factor 13-deficiëntie · Fibrinestabiliserende factordeficiëntie |
| pt | Deficiência de fator XIII congénita | Deficiência de fator estabilizador de fibrina |
| pl | Wrodzony Niedobór czynnika XIII | Niedobór czynnika stabilizującego włóknik |
| cs | Vrozený deficit koagulačního faktoru XIII | Deficit fibrin stabilizujícího faktoru |
| uk | Вроджений дефіцит фактора XIII | Дефіцит фібринстабілізуючого фактора |
| zh | 先天性XIII因子缺乏 | 纤维蛋白稳定因子缺乏 |
| tr | Doğumsal faktör XIII eksikliği | Fibrin stabilize edici faktör eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613225 | BTNT | validated | |
| OMIM | 613235 | BTNT | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.Z | NTBT | index | validated |
| MONDO | 0018029 | E | validated | |
| MeSH | D005177 | E | validated | |
| UMLS | C0015530 | E | validated | |
| GARD | 10766 | E | validated | |
| MedDRA | 10016083 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| F13A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3531 | ENSG00000124491 | 134570 | 6p25.1 | coagulation factor XIII A chain | 21738029[PMID] |
| F13B | Disease-causing germline mutation(s) in | Assessed | HGNC:3534 | ENSG00000143278 | 134580 | 1q31.3 | coagulation factor XIII B chain | 21738029[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
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
26 annotations · validated 2019-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011884 | Abnormal umbilical stump bleeding | |
| HP:0008357 | Reduced factor XIII activity | |
| HP:0030657 | Umbilical cord hematoma | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0005261 | Joint hemorrhage | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0007420 | Spontaneous hematomas | |
| HP:0001933 | Subcutaneous hemorrhage | |
| Occasional (29-5%) | ||
| HP:0011889 | Bleeding with minor or no trauma | |
| HP:0040232 | Delayed onset bleeding | |
| HP:0031364 | Ecchymosis | |
| HP:0000421 | Epistaxis | |
| HP:0000225 | Gingival bleeding | |
| HP:0000132 | Menorrhagia | |
| HP:0001934 | Persistent bleeding after trauma | |
| HP:0001058 | Poor wound healing | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| HP:0200067 | Recurrent spontaneous abortion | |
| Very rare (<4-1%) | ||
| HP:0001399 | Hepatic failure | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0012324 | Myeloid leukemia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27344554[PMID]_27405678[PMID]_27642336[PMID]_29027765[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/331
- This record as JSON: /data/d/331.json