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 |
|---|---|---|---|---|---|---|
| HBBP1 | HBBP1:n.*1931T>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 |
| HBB | HBB:c.265_266del(p.Leu89Glufs*2) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Risk factormore | more |
| HBB:c.-79A>G | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Risk factormore | more | |
| HBB:c.92+6T>C | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Risk factormore | more | |
| HBB:p.Asp73Asn | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu121Gln | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu121Lys | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Lys | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Val | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more | |
| HBB:p.Glu6Val/Ile | Expressivity | Altered hemoglobin level | From review article | Modify HbF productionmore | more |