sickle cell anemia

Summary
Synonym
  • 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
  • haemoglobin SC disease
  • hemoglobin SC disease
  • sickle cell anaemia
Definition
A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Super Class
autosomal recessive disease blood protein disease
External Links
Disease Ontology
DOID:10923
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 69 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
240 ALOX5 arachidonate 5-lipoxygenase
308 ANXA5 annexin A5
847 CAT catalase
929 CD14 CD14 molecule
952 CD38 CD38 molecule
1118 CHIT1 chitinase 1
1312 COMT catechol-O-methyltransferase
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1604 CD55 CD55 molecule (Cromer blood group)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
15275 Hk1 hexokinase 1
18654 Pgf placental growth factor
21926 Tnf tumor necrosis factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25058 Hk1 hexokinase 1
94203 Pgf placental growth factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
43191 Hex-t2 Hexokinase testis 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850614 HXK1 hexokinase 1
852639 HXK2 hexokinase 2

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Last updated: August 19, 2024