Disorder "Pseudoxanthoma Elasticum"
Found 25 records
Disorder information
Disorder name:
Pseudoxanthoma Elasticum
Disoder ID:
OMIM entry:
Synonyms:
Gronblad-Strandberg syndrome
Definition:
A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Modifier statisitcs
Record:
25
Gene:
11
Variant:
20
Reference:
4
Effect type:
Expressivity(22)
,Penetrance(3)
Modifier effect:
Risk factor(15)
,Altered incidence(3)
,Altered onset time(3)
,Higher organ involvement(3)
,Altered serum XT activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| XYLT2 | XYLT2:c.1569C>T | Expressivity | Higher organ involvement | P=0.01 | c.166G>A, c.1569C>T, and c.2402C>G in the XYLT-II gene were found to be more frequent in patients with higher organ involvement (P=0.04, P=0.01, and P=0.02, respectively).more | more |
| XYLT2:c.166G>A | Expressivity | Higher organ involvement | P=0.04 | c.166G>A, c.1569C>T, and c.2402C>G in the XYLT-II gene were found to be more frequent in patients with higher organ involvement (P=0.04, P=0.01, and P=0.02, respectively).more | more | |
| XYLT2:rs6504649 | Expressivity | Higher organ involvement | P=0.02 | c.166G>A, c.1569C>T, and c.2402C>G in the XYLT-II gene were found to be more frequent in patients with higher organ involvement (P=0.04, P=0.01, and P=0.02, respectively).more | more | |
| XYLT2:rs6504649 | Expressivity | Risk factor | P=0.04 | The amino acid substitution p.T801R (XT-II; c.2402C>G) occurs with significantly higher frequency in patients under 30 years of age at diagnosis (43% v 26%; P=0.04); all PXE patients with this variation suffer from skin lesionsmore | more | |
| XYLT1 | XYLT1:rs61758388 | Expressivity | Altered serum XT activity | P=0.005 | The missense variation p.A115S (XT-I) is associated with higher serum XT activity (P=0.005).more | more |
| VEGFA | VEGFA:c.-460C>T | Expressivity | Risk factor | From review article | VEGFA gene polymorphisms might prove useful as a prognostic marker for development of PXE associated retinopathy leading to earlier therapeutic intervention in order to prevent loss of central vision.more | more |
| SPP1 | SPP1:c.155_156insG | Penetrance | Altered incidence | From review article | SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXEmore | more |
| SPP1:c.155_156insG | Expressivity | Risk factor | OR=2.41, 95% CI: (1.51-3.82), P<0.05 | Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.more | more | |
| SPP1:c.-1748A>G | Expressivity | Risk factor | OR=2.16, 95% CI: (1.34-3.48), P<0.05 | Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.more | more | |
| SPP1:c.-1748A>G | Penetrance | Altered incidence | From review article | SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXEmore | more |