body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Findings
No curated finding names body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012570), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal vaginal bleedingHPOHP:0034263
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EndocarditisHPOHP:0100584
- 1 of 1 reported patient
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 1 reported patient
- Fragmented elastic fibers in the dermisHPOHP:0025167
Show the remaining 23
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Peau d'orangeHPOHP:0025533
- 4 of 4 reported patients
- Peripheral pulmonary artery stenosisHPOHP:0004969
- 1 of 1 reported patient
- Prolonged partial thromboplastin timeHPOHP:0003645
- 1 of 1 reported patient
- Prolonged prothrombin timeHPOHP:0008151
- 5 of 5 reported patients
- Reduced factor IX activityHPOHP:0011858
- 5 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GGCXHGNC:4247
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Also called
- pseudoxanthoma elasticum-like syndromePXE-like syndrome