Disorder "Systemic Scleroderma"
Found 2 records
Disorder information
Disorder name:
Systemic Scleroderma
Disoder ID:
OMIM entry:
Synonyms:
PSS, systemic sclerosis, progressive systemic sclerosis, Scleroderma syndrome, Scleroderma
Definition:
Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
STAT4 | STAT4:rs7574865 | Expressivity | Risk factor | P=0.001, OR=1.29, 95% CI: 1.11-1.51 | Combination of the risk alleles at STAT4 SNP rs7574865 and IRF5 SNP rs2004640 leads to increased risk for ILD, highlighting that studies of genetic interactions may be relevant for diseasemore | more |
IRF5 | IRF5:c.-12+2G>T | Expressivity | Risk factor | P=8.92×10(-5), OR=1.31, 95% CI: 1.14–1.49 | Combination of the risk alleles at STAT4 SNP rs7574865 and IRF5 SNP rs2004640 leads to increased risk for ILD, highlighting that studies of genetic interactions may be relevant for diseasemore | more |
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