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 |
|---|---|---|---|---|---|---|
| ABCC6 | ABCC6:c.3421C>T(p.Arg1141*) | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more |
| ABCC6:c.3736-334A>C | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more | |
| ABCC6:c.3803G>A(p.Arg1268Gln) | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more | |
| ABCC6:rs32756904 | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more | |
| ABCC6:rs32756904 | Expressivity | Risk factor | From review article | ABCC6 mutations on a single allele might determine a mild PXE phenotypemore | more |