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 |
|---|---|---|---|---|---|---|
| IL1B | IL1B:c.+3954C>T(p.Phe105Phe) | Expressivity | Risk factor | P=0.01 | 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 |
| IGF1R | IGF1R:c.3723-797G>T | Pleiotropy | Bacteremia-prone phenotype | P=0.0321 | 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 |
| IGF1R:c.-5832G>T | Pleiotropy | Bacteremia-prone phenotype | P=0.0133 | 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 | |
| IGF1R:c.640+30497C>G | Pleiotropy | Bacteremia-prone phenotype | P=0.05 | 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 | |
| IGF1R:c.640+46329T>C | Pleiotropy | Bacteremia-prone phenotype | P=0.0059 | 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 | |
| HLA | HLA:B35/Cw4 | Expressivity | Altered immune response | Assessment of genotype–phenotype associations | Genetic factors or an HLA-related altered immune response may contribute to the development of leg ulcers in sickle cell anemia.more | more |
| HBS1L | HBS1L:c.-380A>C | Expressivity | Altered severity | P=4×10(-7) | HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more | more |
| HBS1L:c.-380A>C | Expressivity | Altered levels of fetalhemoglobin and pain crisis | P=4×10(-7) | Increased levels of fetal hemoglobin, decreased rate of pain crisismore | more | |
| HBS1L:n.135418633_135418635del | Expressivity | Risk factor | Frequently observed mutations | The 4 markers (rs6545816, rs1427407, rs66650371, and rs7482144) each independently contributing HbF-boosting allelesmore | more | |
| HBS1L:n.135418633_135418635del | Expressivity | Altered HbF levels | P=0.002 | Common variants for BCL11A and HBS1L-MYB were strongly associated with HbF levels.more | more |