Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
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.
Features include always present findings: Reduced factor IX activity, Prolonged prothrombin time, Reduced factor X activity, and Reduced factor VII activity and others; and sometimes findings: Cerebral hemorrhage, Reduced protein C activity, Ecchymosis, and Joint hemorrhage. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Abnormal bleeding tendency (abnormal bleeding) |
Brain and nerves | 1 | Cerebral hemorrhage |
Bones and joints | 1 | Joint hemorrhage |
Arms and legs | 1 | Short distal phalanx of finger |
Digestive system | 1 | Elevated circulating hepatic transaminase concentration |
Lab test results | 1 | Elevated circulating hepatic transaminase concentration |
Age of onset: newborn period.
GGCX encodes gamma-glutamyl carboxylase (758 aa). Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant epoxidation of vitamin K hydroquinone to vitamin K epoxide. Highest expression in Cells Cultured fibroblasts (22.0 TPM) and Liver (21.7 TPM).
Vitamin K-dependent clotting factors, combined deficiency of, type 1 is caused by mutations in the GGCX gene on chromosome 2.
The GGCX protein participates in GGCX gamma-carboxylates BGLAP(24-100) (pro-osteocalcin), GGCX gamma-carboxylates F2(25-622) (pro-prothrombin), and GGCX gamma-carboxylates GAS6(31-691) (pro-GAS6) pathways.
GGCX is classified as a druggable target (Druggable Genome and Enzyme categories) with score 5.2.
Genetic testing for GGCX is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features.
No clinical trials have been registered for vitamin K-dependent clotting factors, combined deficiency of, type 1.
2 publications have been identified in PubMed for vitamin K-dependent clotting factors, combined deficiency of, type 1. Research spans Review / Meta-Analysis (100%).
Tourbih H (2025). [PMID: 40747195](https://pubmed.ncbi.nlm.nih.gov/40747195/). *Cureus*. [Review / Meta-Analysis]
Sadler RA (2024). [PMID: 39057059](https://pubmed.ncbi.nlm.nih.gov/39057059/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center