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 |
|---|---|---|---|---|---|---|
| ENPP1 | ENPP1:c.517A>C(p.Lys173Gln) | Penetrance | Altered incidence | P=7.1×10(-5) | These functional mutations may lead to protection from stroke in the context of SCA.more | more |
| EFTUD2 | EFTUD2:c.*2206T>C | Expressivity | Altered HbF production | P=6.95×10(-6) | Possible molecular determinants of HbF productionmore | more |
| EFTUD2:c.*4710A>G | Expressivity | Altered HbF production | P=6.17×10(-6) | Possible molecular determinants of HbF productionmore | more | |
| EFTUD2:c.*588A>G | Expressivity | Altered HbF production | P=6.17×10(-6) | Possible molecular determinants of HbF productionmore | more | |
| EDN1 | EDN1:c.T8002 | Expressivity | Risk factor | P=0.016, OR=5.6, 95% CI: (1.3-25.5) | This retrospective study reveals that ET-1 T8002 and ecNOS C-786 alleles are associated with, respectively, an increased and a decreased risk of acute chest syndrome.more | more |
| ECE1 | ECE1:c.494-1393C>T | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more |
| ECE1:c.616-329A>G | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| CYP4B1 | CYP4B1:c.989A>C(p.Tyr330Ser) | Expressivity | Altered glomerular filtration rate | P=0.0223 | AGGF1, CYP4B1, CUBN, TOR2A,PKD1L2, and CD163 variants affecting the glomerular filtration ratemore | more |
| CUBN | CUBN:c.9565A>G(p.Ile3189Val) | Expressivity | Altered glomerular filtration rate | P=0.0469 | DARC rs2814778 that confers the Duffy antigen positive (Fy+) phenotype was associated with a small protective effect against albuminuria.more | more |
| CSF2 | CSF2:c.350T>C(p.Ile117Thr) | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more |