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 |
|---|---|---|---|---|---|---|
| SMAD3 | SMAD3:c.206+6924A>G | Pleiotropy | Bacteremia-prone phenotype | P=0.0114 | We suggest that both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a bacteremia-prone phenotype.more | more |
| SLC12A6 | SLC12A6:c.272-4334G>A | Expressivity | Risk factor | P=0.028 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more |
| SERPINC1 | SERPINC1:c.1219-856C>T | Expressivity | Risk factor | P=0.001 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more |
| SELP | SELP:c.1147+220G>A | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more |
| SELP:c.1147+440G>A | Expressivity | Risk factor | P=0.014 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more | |
| SELP:c.1705+2346T>A | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| SELP:c.-920A>G | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| SELP:c.992G>A(p.Ser331Asn) | Expressivity | Risk factor | P=0.019 | A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.more | more | |
| RRAD | RRAD:rs7198458 | Expressivity | Altered white blood cell counts | P=0.000033 | Associated with WBC(white blood cell) and ANC(absolute neutrophil count).more | more |
| PKD1L2 | PKD1L2:c.4972-1G>C | Expressivity | Altered glomerular filtration rate | P=0.0443 | AGGF1, CYP4B1, CUBN, TOR2A,PKD1L2, and CD163 variants affecting the glomerular filtration ratemore | more |