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 |
|---|---|---|---|---|---|---|
| MTHFR | MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Risk factor | P=0.015 | Comparisons between the groups were made using the χ(2) test. The 677 CT and TT genotypes showed a significant risk of vascular complications (p=0.015).more | more |
| MPO | MPO:c.G-463A | Expressivity | Altered susceptibility | P=0.0112 | Here we present evidence to suggest that a polymorphism (G-463A MPO) in the gene encoding the myeloperoxidase (MPO) enzyme, important for the host defense system, may significantly increase susceptibility to infection in SCA.more | more |
| MET | MET:c.1393-910C>T | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more |
| MET:c.-14-1476G>A | Expressivity | Risk factor | Bayesian approach | 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of strokemore | more | |
| MBL2 | MBL2:c.-290C>G | Expressivity | Altered serum levels | P=0.0188, OR=3.15, 95% CI: 1.19-8.50 | In children with SCA, the frequency of the genotypes of MBL2 of intermediate/low expression for MBL was associated with FVOC >or=1 (p=0.0188 OR=3.15 CI=1.19-8.50).more | more |
| MBL2:exon10/A | Expressivity | Altered serum levels | Assessment of genotype–phenotype associations | MBL2 polymorphism at promoter and first exon of MBL2 associated with low serum levels and structural alterations of MBL could modify the phenotype of the child with SCA related to VOC.more | more | |
| MAP7 | MAP7:c.133+8909A>G | Expressivity | Altered baseline HbF level | P<0.05 | The polymorphisms may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.more | more |
| MAP7:c.817+196G>T | Expressivity | Altered baseline HbF level | P<0.05 | The polymorphisms may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.more | more | |
| MAP7:c.967-1853T>C | Expressivity | Altered baseline HbF level | P<0.05 | The polymorphisms may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.more | more | |
| MAP7:n.19098871C>T | Expressivity | Altered baseline HbF level | P<0.05 | The polymorphisms may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.more | more |