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 |
|---|---|---|---|---|---|---|
| SPP1 | SPP1:c.244_245insTG | Penetrance | Altered incidence | From review article | SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXEmore | more |
| SPP1:c.244_245insTG | Expressivity | Risk factor | OR=1.97, 95% CI: (1.23-3.15), P<0.05 | Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.more | more | |
| SOD2 | SOD2:c.47T>C(p.Ala16Val) | Expressivity | Altered onset time | From review article | CAT,SOD2,GPX1 mutated alleles, indicating a cumulative effect on the time of PXE onsetmore | more |
| GPX1 | GPX1:c.593C>T(p.Pro200Leu) | Expressivity | Altered onset time | From review article | CAT,SOD2,GPX1 mutated alleles, indicating a cumulative effect on the time of PXE onsetmore | more |
| ENPP1 | ENPP1:c.313+9G>T | Expressivity | Risk factor | P=0.0024 | The ENPP1 gene (c.313+9G>T, rs7773477) remained significantly associated with PXE with significantly higher MAF values in the patient cohort (MAF: 0.04 vs. 0.00; P=0.0024) and a high association with PXE susceptibility (OR 27.96).more | more |
| CAT | CAT:c.262C>T | Expressivity | Altered onset time | From review article | CAT,SOD2,GPX1 mutated alleles, indicating a cumulative effect on the time of PXE onsetmore | more |
| ANKH | ANKH:c.294C>T(p.Ala98Ala) | Expressivity | Risk factor | P=0.0012 | PXE was highly associated with ANKH p.A98A genotype TTmore | more |
| ALPL | ALPL:c.1190-65C>A | Expressivity | Risk factor | P=0.01 | The SNV c.1190-65C>A (rs1780329) in the ALP gene was significantly more frequent in PXE patients.more | more |
| ABCC6 | ABCC6:c.1866G>A | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more |
| ABCC6:c.2996_4208del | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more |