Disorder "Behcet's Disease"
Found 5 records
Disorder information
Disorder name:
Behcet's Disease
Disoder ID:
OMIM entry:
Synonyms:
Behcet syndrome, Adamantiades-Behcet disease, triple symptom complex, Behet's syndrome
Definition:
A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Modifier statisitcs
Record:
5
Gene:
2
Variant:
4
Reference:
2
Effect type:
Expressivity(3)
,Pleiotropy(2)
Modifier effect:
Risk factor(3)
,Presence of papulopustular lesion(1)
,Vascular involvement(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SUMO4 | SUMO4:c.438C>T | Pleiotropy | Presence of papulopustular lesion | P=0.006 | The C438T polymorphism in the SUMO4 gene is associated with significantly increased risk of papulopustular skin lesions in HLA-B51-positive patients.more | more |
| SUMO4:c.438C>T | Pleiotropy | Vascular involvement | P=0.045 | The C438T polymorphism in the SUMO4 gene is associated with significantly increased risk of papulopustular skin lesions in HLA-B51-positive patients.more | more | |
| MEFV | MEFV:c.2080A>T(p.Met694Leu) | Expressivity | Risk factor | Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) | The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.more | more |
| MEFV:c.2177T>C(p.Val726Ala) | Expressivity | Risk factor | Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) | The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.more | more | |
| MEFV:c.442G>C(p.Glu148Gln) | Expressivity | Risk factor | Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) | The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.more | more |
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