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body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

MONDO:0012570

Also known as:PXE-like syndromepseudoxanthoma elasticum-like syndromePXE-like disorder with multiple coagulation Factor deficiency

Overview

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

GeneticsAutosomal recessive · GGCX (chr 2)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Cutis laxa, Redundant skin, Blood clotting problems (abnormality of coagulation), and Papule; and common findings: Abnormal bleeding tendency (abnormal bleeding), Angioid streaks of the fundus, Yellow papule, and Atherosclerosis. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Yellow papule, Redundant skin, Papule

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is associated with 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.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GGCX is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency.

2 publications have been identified in PubMed for body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Gül F (2026). [PMID: 42057497](https://pubmed.ncbi.nlm.nih.gov/42057497/). *Balkan Med J*. [Case Report / Case Series]
Miyamoto S (2025). [PMID: 40036623](https://pubmed.ncbi.nlm.nih.gov/40036623/). *Br J Dermatol*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610842

Orphanet

European rare disease database

Orphanet:91135

GARD

Genetic and Rare Diseases Info Center

GARD:16796

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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