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 |
|---|---|---|---|---|---|---|
| TOR2A | TOR2A:c.793C>T(p.Arg265Trp) | Expressivity | Altered glomerular filtration rate | P=0.0475 | AGGF1, CYP4B1, CUBN, TOR2A,PKD1L2, and CD163 variants affecting the glomerular filtration ratemore | more |
| TNF | TNF:c.-308G>A | Expressivity | Risk factor | OR=3.27; 95% CI: 1.6, 6.9; p=0.006 | The TNF(-308) G/A promoter polymorphism is a clinically important risk factor for large vessel stroke in children with SCAmore | more |
| TNF:c.-238G>A | 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. | Specific polymorphisms in the IL4R 503, TNF (-308), and ADRB2 28 genes were independently associated with stroke susceptibility in the LV stroke subgroupmore | more | |
| TNF:c.-244G>A | 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. | Specific polymorphisms in the IL4R 503, TNF (-308), and ADRB2 28 genes were independently associated with stroke susceptibility in the LV stroke subgroupmore | more | |
| TNF:c.-308G>A | Pleiotropy | Altered stroke susceptibility | Large-vessel stroke: or±se = 0.52±0.17, P=0.048 | Specific polymorphisms in the IL4R 503, TNF (-308), and ADRB2 28 genes were independently associated with stroke susceptibility in the LV stroke subgroup. The combination of TNF (-308)GG homozygosity and the IL4R 503P variant carrier status was associated with a particularly strong predisposition to LV stroke.more | more | |
| TGFBR3 | TGFBR3:c.2167-75C>T | Expressivity | Risk factor | OR=2.04, 95% CI: (1.04 – 4.07), P=0.0387 | The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions.more | more |
| TGFBR3:c.2287+3512T>C | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| TGFBR3:c.2287+3512T>C | Expressivity | Risk factor | Bayesian approach | ANXA2 (rs11853426),TEK (rs489347), and TGFBR3 (rs284875) variants were associated with increased stroke riskmore | more | |
| TGFBR3:c.2330-1107G>A | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| TGFBR3:c.2330-956G>A | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more |