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 |
|---|---|---|---|---|---|---|
| NOS1 | NOS1:c.853-2109C>T | Expressivity | Altered response to hydroxyurea | Recessive model: P=0.045 | Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HUmore | more |
| NONE | NONE:c.*828G>A | Expressivity | Altered severity | Haplotypes (rs11036351,rs4320977,rs16912210,rs2855039,rs7482144) are associated with fetal haemoglobin | These SNP-defined βS-haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.more | more |
| NONE:c.-2499T>C | Expressivity | Altered severity | Haplotypes (rs11036351,rs4320977,rs16912210,rs2855039,rs7482144) are associated with fetal haemoglobin | These SNP-defined βS-haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.more | more | |
| NONE:n.135419018T>C | Expressivity | Altered severity | P=5×10(-11) | HbF-associated SNPs associate with pain crisis rate in SCD patients modifying the severity of a monogenic disease.more | more | |
| NONE:n.135419018T>C | Expressivity | Altered levels of fetalhemoglobin and pain crisis | P=5×10(-11) | Increased levels of fetalhemoglobin, decreasedrate of pain crisismore | more | |
| NONE:n.135419018T>C | Expressivity | Altered level of Fetal hemoglobin | When the cumulative numbers of minor alleles in the three contributing snps were assessed, hbf% and hemoglobin concentration increased with increasing number of minor alleles (p<0.0005 and 0.001, respectively), while serum lactic dehydrogenase, reticulocytes, leukocytes, transfusion, and pain frequencies decreased (p=0.003, 0.004, <0.0005, <0.0005, and 0.017, respectively). | SNPs in all three major HbF QTLs contribute significantly to HbF and clinical variability in Iraqi Kurds with SCDmore | more | |
| NONE:rs736839 | Expressivity | Risk factor | OR=1.95, 95% CI: (1.35 – 2.82), P= 0.0004 | The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions.more | more | |
| NES | NES:rs951781 | Expressivity | Altered white blood cell counts | P=0.000011 | Associated with WBC(white blood cell) and ANC(absolute neutrophil count).more | more |
| MYB | MYB:c.1991C>T(p.Ser664Leu) | Expressivity | Altered fetal hemoglobin (HbF) levels | P=0.005 | Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%.more | more |
| MTHFR | MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Risk factor | P=0.006 | The rmolabile MTHFR variant may be a contributing risk factor for AVN in some populations with sickle cell disease.more | more |