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 11 - 20 of 69 in total
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
1727 CYB5R3 cytochrome b5 reductase 3
2215 FCGR3B Fc gamma receptor IIIb
2224 FDPS farnesyl diphosphate synthase
2271 FH fumarate hydratase
2519 FUCA2 alpha-L-fucosidase 2
2523 FUT1 fucosyltransferase 1 (H blood group)
2539 G6PD glucose-6-phosphate dehydrogenase
2571 GAD1 glutamate decarboxylase 1
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
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