ORPHA:98434
Hereditary combined deficiency of vitamin K-dependent clotting factors
Synonyms: Hereditary combined deficiency of factors II, VII, IX and X
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Infancy, Neonatal
- Status
- active
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary combined deficiency of vitamin K-dependent clotting factors | Hereditary combined deficiency of factors II, VII, IX and X |
| fr | Déficit héréditaire combiné en facteurs de la coagulation dépendants de la vitamine K | Déficit héréditaire combiné en facteur II, VII, IX et X |
| de | Vitamin K-abhängige Gerinnungsfaktoren, hereditärer kombinierter Mangel | Faktoren II, VII, IX und X, hereditärer kombinierter Mangel |
| es | Deficiencia combinada de factores de la coagulación dependientes de la vitamina K, forma hereditaria | Deficiencia combinada hereditaria de factores II, VII, IX y X |
| it | Deficit combinato ereditario dei fattori della coagulazione dipedenti dalla vitamina K | Deficit combinato ereditario dei fattori II, VII, IX e X |
| nl | Hereditaire gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren | Erfelijke gecombineerde deficiëntie van factoren II, VII, IX en X |
| pt | Deficiência combinada hereditária dos fatores de coagulação vitamina K-dependente | |
| pl | Dziedziczny złożony niedobór czynników krzepnięcia zależnych od witaminy K | = en |
| cs | Dědičný kombinovaný deficit vitamin K-dependentních koagulačních faktorů | Dědičný kombinovaný deficit faktorů II, VII, IX a X |
| uk | Спадковий комбінований дефіцит вітамін К-залежних факторів згортання крові | Спадковий комбінований дефіцит факторів II, VII, IX і X |
| zh | 遗传性维生素K依赖性凝血因子复合缺乏症 | 遗传性II/VII/IX/X因子复合缺乏症 |
| tr | K vitaminine bağlı pıhtılaşma faktörlerinin kalıtsal kombine eksikliği | II, VII, IX ve X faktörlerinin kalıtsal kombine eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277450 | E | validated | |
| OMIM | 607473 | BTNT | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.2 | E | specific | validated |
| MONDO | 0015722 | E | validated | |
| MONDO | 15722 | E | validated | |
| UMLS | C4510617 | 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 (2):
- ORPHA:169826Congenital vitamin K-dependent coagulation factors deficiency
rare genetic diseases; rare hematological diseases - ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GGCX | Disease-causing germline mutation(s) in | Assessed | HGNC:4247 | ENSG00000115486 | 137167 | 2p11.2 | gamma-glutamyl carboxylase | 16720838[PMID] |
| VKORC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23663 | ENSG00000167397 | 608547 | 16p11.2 | vitamin K epoxide reductase complex subunit 1 | 14765194[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 272 cases | Worldwide | Case(s) | Validated | 39496305[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20630065[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
31 annotations · validated 2025-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000978 | Bruising susceptibility | |
| HP:0040226 | Decreased level of heparin co-factor II | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0011858 | Reduced factor IX activity | |
| HP:0008169 | Reduced factor VII activity | |
| HP:0008321 | Reduced factor X activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| Occasional (29-5%) | ||
| HP:0001102 | Angioid streaks of the fundus | |
| HP:0002621 | Atherosclerosis | |
| HP:0012541 | Cephalohematoma | |
| HP:0000973 | Cutis laxa | |
| HP:0031364 | Ecchymosis | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0000421 | Epistaxis | |
| HP:0004646 | Hypoplasia of the nasal bone | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0005261 | Joint hemorrhage | |
| HP:0000132 | Menorrhagia | |
| HP:0000939 | Osteoporosis | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| HP:0011890 | Prolonged bleeding following procedure | |
| HP:0006118 | Shortening of all distal phalanges of the fingers | |
| Very rare (<4-1%) | ||
| HP:0011884 | Abnormal umbilical stump bleeding | |
| HP:0001631 | Atrial septal defect | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001629 | Ventricular septal defect | |
Annotation source: 40541254[PMID]_39496305[PMID]_20630065[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98434
- This record as JSON: /data/d/98434.json