Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Synonyms
- PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Unknown inheritance (Orphanet)
Summary
Available tests
Clinical tests (30 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormal bleeding
Abnormal bleeding
- MedGen UID: 264316
- Concept ID: C1458140
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Prolonged prothrombin time
Prolonged prothrombin time
- MedGen UID: 208879
- Concept ID: C0853225
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reduced factor IX activity
Reduced factor IX activity
- MedGen UID: 868754
- Concept ID: C4023159
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reduced factor VII activity
Reduced factor VII activity
- MedGen UID: 892851
- Concept ID: C4024722
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reduced factor X activity
Reduced factor X activity
- MedGen UID: 892449
- Concept ID: C4024702
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Abnormal bleeding
- Abnormality of the cardiovascular system
- Atherosclerosis
Atherosclerosis
- MedGen UID: 13948
- Concept ID: C0004153
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atherosclerosis
- Abnormality of the eye
- Angioid streaks
Angioid streaks
- MedGen UID: 1541
- Concept ID: C0002982
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal peau d'orange
Retinal peau d'orange
- MedGen UID: 1713761
- Concept ID: C5398025
- Finding: Finding
Abnormality of the eye
- Angioid streaks
- Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Yellow papule
Yellow papule
- MedGen UID: 1373750
- Concept ID: C2033396
- Finding: Finding
Abnormality of the integument
- Cutis laxa
- Uitto et al., 2012Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting
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