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 |
|---|---|---|---|---|---|---|
| LTA4H | LTA4H:c.1059+160T>C | Expressivity | Risk factor | P=0.018 | 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 |
| LTA4H:c.1380-1063A>T | Expressivity | Risk factor | P=0.022 | 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 | |
| LOC105378010 | LOC105378010:n.135426573A>G | Expressivity | Risk factor | Common in the west african population (p=0.00) | A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population.more | more |
| LOC105378010:n.135426573A>G | Expressivity | Altered severity | P=1×10(-7) | HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more | more | |
| LOC105378010:n.135426573A>G | Expressivity | Altered levels of fetalhemoglobin and pain crisis | P=1×10(-7) | Increased levels of fetal hemoglobin, decreased rate of pain crisismore | more | |
| LOC105378010:n.135426573A>G | Expressivity | Altered levels of HbF | P<0.001 | High levels of HbF were primarily influenced by alleles of BCL11A (rs4671393) and HMIP (rs4895441) loci, and to a lesser extent by rs748214 Gγ-globin (HBG2) gene promoter.more | more | |
| LOC105378010:n.135427159T>C | Expressivity | Altered anemia, leukocytosis, and thrombocytosis | P<0.0001 | Alleles at HbF modifier loci significantly reduce anemia, leukocytosis, and thrombocytosis in Tanzanian patients with SCD.more | more | |
| LDLR | LDLR:c.*1453A>G | Pleiotropy | Altered stroke susceptibility | Small-vessel stroke: or±se = 0.53 ± 0.139, P=0.002 | Variants in the VCAM1 (-1594) and LDLR NcoI genes were associated with SV stroke risk.more | more |
| LCAT | LCAT:c.1177C>T(p.Leu393Leu) | Expressivity | Risk factor | P=0.047 | 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 |
| LCAT:hcv2846928 | Expressivity | Risk factor | P=0.022 | 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 |