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
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 21 in total
Gene ID Gene Symbol Description Source
3098 HK1 hexokinase 1
3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
4846 NOS3 nitric oxide synthase 3
4879 NPPB natriuretic peptide B
5175 PECAM1 platelet and endothelial cell adhesion molecule 1
5228 PGF placental growth factor
5444 PON1 paraoxonase 1
6708 SPTA1 spectrin alpha, erythrocytic 1
7040 TGFB1 transforming growth factor beta 1
7124 TNF tumor necrosis factor
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
12266 C3 complement component 3
12491 Cd36 CD36 molecule
13095 Cyp2c29 cytochrome P450, family 2, subfamily c, polypeptide 29
14061 F2 coagulation factor II
14066 F3 coagulation factor III
14775 Gpx1 glutathione peroxidase 1
14961 H2-Ab1 histocompatibility 2, class II antigen A, beta 1
14962 Cfb complement factor B
15275 Hk1 hexokinase 1
18127 Nos3 nitric oxide synthase 3, endothelial cell
Displaying all 10 entries
Gene ID Gene Symbol Description Source
24232 C3 complement C3
24600 Nos3 nitric oxide synthase 3
24835 Tnf tumor necrosis factor
25058 Hk1 hexokinase 1
29583 Pecam1 platelet and endothelial cell adhesion molecule 1
54225 Apob apolipoprotein B
59086 Tgfb1 transforming growth factor, beta 1
84024 Pon1 paraoxonase 1
84349 Cd40lg CD40 ligand
94203 Pgf placental growth factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
38868 Snmp2 Sensory neuron membrane protein 2
43191 Hex-t2 Hexokinase testis 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
447803 pon1 paraoxonase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
397778 tgfb1.L transforming growth factor beta 1 L homeolog Xenopus laevis (African clawed frog)
448598 pon2 paraoxonase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 6 entries
Gene ID Gene Symbol Description Source
171999 poml-2 Arylesterase
176673 scav-3 Sensory neuron membrane protein 2
176787 scav-2 SCAVenger receptor (CD36 family) related
181178 gpx-5 Glutathione peroxidase
182513 gpx-3 Glutathione peroxidase 3
187297 poml-1 PON (paraoxonase) and MEC-6 Like
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850614 HXK1 hexokinase 1
852639 HXK2 hexokinase 2

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Last updated: December 9, 2024