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

General Information (adopted from Orphanet):

Synonyms, Signs: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
Pseudoxanthoma elasticum-like syndrome
PXE-like syndrome
Number of Symptoms 10
OrphanetNr: 91135
OMIM Id: 610842
ICD-10: D68.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis elastic tissue disorder
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0001102) Angioid streaks of the retina 4/10 [HPO:probinson] 11 / 7739
3
(HPO:0000973) Cutis laxa 43 / 7739
4
(HPO:0002621) Atherosclerosis 33 / 7739
5
(HPO:0008169) Reduced factor VII activity 17110937 IBIS 4 / 7739
6
(HPO:0012201) Reduced prothrombin activity 17110937 IBIS 4 / 7739
7
(HPO:0008321) Reduced factor X activity 17110937 IBIS 4 / 7739
8
(HPO:0011858) Reduced factor IX activity 17110937 IBIS 7 / 7739
9
(HPO:0001892) Abnormal bleeding 5/10 [HPO:probinson] 17110937 IBIS 85 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vanakker et al. (2007) described 6 patients with a disorder sharing features of pseudoxanthoma elasticum (PXE; 264800) and cutis laxa (see 219100) and associated with multiple coagulation factor deficiency (see 277450). Clinical overlap of PXE was obvious from ...
Genotype-Phenotype Correlations OMIM Vanakker et al. (2007) noted that the GGCX mutations they found resulting in the PXE-like disorder with multiple coagulation factor deficiency occurred in exons 8, 10, or 12. Mutations in these exons had not been described in patients ...
Molecular genetics OMIM In 6 patients with a PXE-like phenotype with multiple vitamin K-dependent clotting factors, Vanakker et al. (2007) found mutations in the GGCX gene (137167), which is also implicated in a form of multiple vitamin K-dependent coagulation factor deficiency ...