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Hereditary combined deficiency of vitamin K-dependent clotting factors
2 OMIM references -
2 associated genes
53 connected diseases
No signs/symptoms info
Disease Type of connection
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
X-linked dominant chondrodysplasia punctata
22q11.2 deletion syndrome
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Aicardi-Goutières syndrome
Alpha-1-antitrypsin deficiency
Amyotrophic lateral sclerosis
Apolipoprotein A-I deficiency
CADDS
Cerebroretinal vasculopathy
Chilblain lupus
Cholesterol-ester transfer protein deficiency
Common variable immunodeficiency
Congenital atransferrinemia
Congenital muscular dystrophy with intellectual disability and severe epilepsy
D,L-2-hydroxyglutaric aciduria
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial renal amyloidosis due to Apolipoprotein AI variant
Familial renal amyloidosis due to Apolipoprotein AII variant
Genetic hyperferritinemia without iron overload
HERNS syndrome
Hemochromatosis type 2
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hereditary hyperferritinemia with congenital cataracts
Hereditary vascular retinopathy
Immunodeficiency due to an early component of complement deficiency
Keratosis follicularis spinulosa decalvans
LIG4 syndrome
Neuroferritinopathy
Omenn syndrome
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Primary systemic amyloidosis
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Solitary fibrous tumor
X-linked Charcot-Marie-Tooth disease type 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability, Hedera type
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Congenital factor VII deficiency
Congenital factor X deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Mild hemophilia B
Moderately severe hemophilia B
Severe hemophilia B
Symptomatic form of hemophilia B in female carriers
Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GGCX P38435137167
VKORC1 Q9BQB6608547
No signs/symptoms info available.