Disorder "Sickle Cell Anemia"
Found 352 records
Disorder information
Disorder name:
Sickle Cell Anemia
Disoder ID:
OMIM entry:
Synonyms:
Hb SC disease,Hb-S/Hb-C disease,Hb-SS disease without crisis,Hemoglobin S disease without crisis,Sickle-cell/Hb-C disease without crisis,drepanocytosis,hemoglobin SC disease
Definition:
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Modifier statisitcs
Record:
352
Gene:
110
Variant:
291
Reference:
43
Effect type:
Expressivity(325)
,Pleiotropy(22)
,Penetrance(4)
,Dominance(1)
Modifier effect:
Risk factor(104)
,Altered HbF levels(76)
,Altered response to hydroxyurea(32)
,Altered HbF production(25)
,Altered severity(17)
,Bacteremia-prone phenotype(13)
,Altered white blood cell counts(11)
,Altered baseline HbF level(10)
,Altered hemoglobin level(9)
,Altered fetal hemoglobin (HbF) levels(8)
,Altered levels of fetalhemoglobin and pain crisis(8)
,Altered glomerular filtration rate(6)
,Altered stroke susceptibility(6)
,Altered anemia, leukocytosis, and thrombocytosis(4)
,Altered incidence(4)
,Altered level of Fetal hemoglobin(3)
,Altered levels of HbF(3)
,Altered susceptibility(2)
,Altered serum levels(2)
,Presence of albuminuria(2)
,Alter the occurrence of stroke(1)
,Altered HbF levele(1)
,Altered bilirubin level(1)
,Altered immune response(1)
,Altered level of fetal hemoglobin(1)
,Altered rate of hospitalization(1)
,Heterozygote susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| JAZF1 | JAZF1:c.116-6775C>T | Expressivity | Altered HbF production | P=1.68×10(-6) | Possible molecular determinants of HbF productionmore | more |
| ITGAV | ITGAV:c.317-8566A>G | Expressivity | Risk factor | P=0.00090 | Our data suggest that genes involved in the TGFbeta pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapismmore | more |
| ITGA2B | ITGA2B:c.2621T>G(p.Ile874Ser) | Expressivity | Risk factor | P=0.002; OR=2.94; 95% CI: 1.49-5.77 | The polymorphisms are associated with Vaso‐occlusive crisismore | more |
| ITGA2 | ITGA2:c.1600G>A(p.Glu534Lys) | Expressivity | Risk factor | P=0.002; OR=2.94; 95% CI: 1.49-5.77 | The polymorphisms are associated with Vaso‐occlusive crisismore | more |
| ITGA11 | ITGA11:rs2271725 | Expressivity | Altered white blood cell counts | P=0.00034 | Associated with WBC(white blood cell) and ANC(absolute neutrophil count).more | more |
| Intergenic | Intergenic:n.23218009C>T | Expressivity | Altered HbF production | P=3.34×10(-6) | Possible molecular determinants of HbF productionmore | more |
| Intergenic:n.42401652T>C | Expressivity | Altered HbF production | P=3.34×10(-6) | Possible molecular determinants of HbF productionmore | more | |
| IL6 | IL6:c.-174C>G | Expressivity | Risk factor | P=0.03 | IL-1β and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity.more | more |
| IL6:c.-597G>A | Expressivity | Risk factor | P=0.03 | IL-1β and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity.more | more | |
| IL4R | IL4R:c.1507T>C(p.Ser503Pro) | Pleiotropy | Altered stroke susceptibility | A 3-way interaction test in 2 (IL4R) × 2 (TNF) × 3 (stroke subgroups) log-linear model: log likelihood ratio statistic = 6.719; degrees of freedom = 2; P=0.035. | The IL4R 503P allelic variant was specifically associated with an increased stroke risk in the LV stroke subgroup.more | more |