MCID: SCK005
MIFTS: 54

Sickle Cell Disease malady

Genetic diseases (common), Immune diseases, Blood diseases categories

Summaries for Sickle Cell Disease

About this section


Genetics Home Reference:21 Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

MalaCards based summary: Sickle Cell Disease, also known as sickling disorder due to hemoglobin s, is related to hemoglobinopathy and glucose-6-phosphate dehydrogenase deficiency. An important gene associated with Sickle Cell Disease is HBB (hemoglobin, beta), and among its related pathways are O2/CO2 exchange in erythrocytes and Factors involved in megakaryocyte development and platelet production. The drug sodium phenylbutyrate and the compounds de-oxy and s-nitrosocysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and lung, and related mouse phenotypes are integument and liver/biliary system.

Wikipedia:63 Sickle-cell disease (SCD), also known as sickle-cell anaemia (SCA) and drepanocytosis, is a hereditary... more...

GeneReviews summary for sickle

Aliases & Classifications for Sickle Cell Disease

About this section

Sickle Cell Disease, Aliases & Descriptions:

Name: Sickle Cell Disease 19 20 21 43 3
Sickling Disorder Due to Hemoglobin S 21
Sickle Cell Disorders 21
Hemoglobin S Disease 21
 
Anemia, Sickle Cell 60
Hbs Disease 21
Scd 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases, Blood diseases


External Ids:

ICD1025 D57

Related Diseases for Sickle Cell Disease

About this section

Diseases related to Sickle Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 212)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinopathy31.5HBS1L
2glucose-6-phosphate dehydrogenase deficiency31.0HBG2, G6PD, UGT1A1
3pyruvate kinase deficiency31.0G6PD
4sickle cell anemia30.9HBB, G6PD, HBG1
5malaria30.6G6PD, HBB, GYPE
6paroxysmal nocturnal hemoglobinuria30.6SELL, G6PD
7iron deficiency anemia30.5G6PD, EPO, HBG2
8hereditary spherocytosis30.4UGT1A1, G6PD
9plasmodium falciparum malaria30.4G6PD, HBB
10thalassemia30.2UGT1A1, HBG1, HBS1L, KLF1, HBD, HBG2
11thrombocytosis30.0EPO, EPOR
12neutropenia30.0UGT1A1, EPOR, EPO
13hemolytic anemia29.8HBG2, HBB, G6PD, EPO, UGT1A1
14breast cancer29.5EPOR, SELL, G6PD, HBB, UGT1A1
15leukemia29.5HBB, EPOR, EPO, ALAS2, SELL, KLF1
16deficiency anemia29.0KLF1, ALAS2, EPO, EPOR, G6PD, HBB
17acute chest syndrome11.1
18priapism10.8
19splenic sequestration10.8
20endotheliitis10.6
21pulmonary hypertension10.6
22avascular necrosis of the femoral head10.6
23cerebritis10.6
24retinitis10.6
25asthma10.5
26cholelithiasis10.5
27pneumonia10.5
28retinal artery occlusion10.5
29lysinuric protein intolerance10.4G6PD
30hepatitis10.4
31hypoxia10.4
32macrocytic anemia, refractory, due to 5q deletion, somatic10.4EPO
33gilbert syndrome10.4UGT1A1
34bacteremia10.4
35central retinal artery occlusion10.4
36bone marrow necrosis10.4
37fetal hemoglobin quantitative trait locus 110.4HBG2, HBG1
38methemoglobinemia10.4HBG2, G6PD
39arthritis10.3
40hematopoietic stem cell transplantation10.3
41ischemia10.3
42splenomegaly10.3
43blindness10.3
44hereditary persistence of fetal hemoglobin - sickle cell disease10.3
45phenylketonuria10.3HBB, G6PD
46thalassemia, hispanic gamma-delta-beta10.3HBB, EPO
47glomerulonephritis10.3
48intrahepatic cholestasis10.3
49hemoglobin c disease10.3
50splenic infarction10.3

Graphical network of the top 20 diseases related to Sickle Cell Disease:



Diseases related to sickle cell disease

Symptoms for Sickle Cell Disease

About this section

Drugs & Therapeutics for Sickle Cell Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Sickle Cell Disease

Search NIH Clinical Center for Sickle Cell Disease

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Sickle Cell Disease

About this section

Genetic tests related to Sickle Cell Disease:

id Genetic test Affiliating Genes
1 Sickle Cell Disease20 HBB

Anatomical Context for Sickle Cell Disease

About this section

MalaCards organs/tissues related to Sickle Cell Disease:

31
Bone, Endothelial, Lung, Bone marrow, Neutrophil, Placenta, Kidney, Liver, Testes, Spleen, Brain, Heart, Monocytes, Breast, Tonsil, Pituitary, Whole blood, Retina, Spinal cord, Colon, Salivary gland, Myeloid, B cells

Animal Models for Sickle Cell Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Sickle Cell Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4KLF1, ALAS2, EPO, SELL, HBB
2MP:00053708.2KLF1, EPO, EPOR, SELL, HBB
3MP:00053808.1ALAS2, EPO, EPOR, G6PD, HBB, KLF1
4MP:00053857.8BCAM, EPO, EPOR, G6PD, SELL, HBB
5MP:00053977.5G6PD, EPOR, EPO, ALAS2, SELL, HBB
6MP:00053767.1KLF1, ALAS2, EPO, EPOR, G6PD, SELL

Publications for Sickle Cell Disease

About this section

Articles related to Sickle Cell Disease:

(show top 50)    (show all 1091)
idTitleAuthorsYear
1
Estimated pulmonary artery systolic pressure and sickle cell disease: a meta-analysis and systematic review. (25854714)
2015
2
Attitudes toward patients with sickle cell disease in a multicenter sample of emergency department providers. (25356894)
2014
3
Erythropoietin levels in patients with sickle cell disease do not correlate with known inducers of erythropoietin. (25405915)
2014
4
Peripheral Red Blood Cell Split Chimerism as a Consequence of Intramedullary Selective Apoptosis of Recipient Red Blood Cells in a Case of Sickle Cell Disease. (25408852)
2014
5
Ectodermal dysplasia associated with sickle cell disease. (25343049)
2014
6
Potential role for statins in sickle cell disease. (23281161)
2013
7
Morbidity among child travellers with sickle-cell disease visiting tropical areas: an observational study in a French tertiary care centre. (23661574)
2013
8
Natural antiband 3 antibodies in patients with sickle cell disease. (23643401)
2013
9
Morphine is associated with acute chest syndrome in children hospitalized with sickle cell disease. (24340416)
2013
10
Acute, bilateral, concurrent central retinal artery occlusion in sickle cell disease after use of tadalafil (Cialis). (24052082)
2013
11
Regulatory B-cell compartment in transfused alloimmunized and non-alloimmunized patients with sickle cell disease. (23720018)
2013
12
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way? (23827693)
2013
13
Interplay between coagulation and vascular inflammation in sickle cell disease. (23593937)
2013
14
Airways obstruction and pulmonary capillary blood volume in children with sickle cell disease. (24214657)
2013
15
PedsQLa8c sickle cell disease module: feasibility, reliability, and validity. (23441057)
2013
16
Pattern of chronic lung lesions in adults with sickle cell disease in Lagos, Nigeria. (24294468)
2013
17
Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies. (24319205)
2013
18
Expression of regulatory platelet microRNAs in patients with sickle cell disease. (23593351)
2013
19
I^-globin gene transfer to human bone marrow for sickle cell disease. (23863630)
2013
20
The effect of hydroxcarbamide therapy on survival of children with sickle cell disease. (23590693)
2013
21
Oxidative stress in sickle cell disease: An overview of erythrocyte redox metabolism and current antioxidant therapeutic strategies. (24002011)
2013
22
Anomalous insertion of the papillary muscle in a patient with sickle cell disease: a normal variant with no left ventricular outflow obstruction. (22989742)
2012
23
Reproductive attitudes and behaviors in people with sickle cell disease or sickle cell trait: a qualitative interpretive meta-synthesis. (23078010)
2012
24
The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease. (22925497)
2012
25
Polymorphisms associated with sickle cell disease in Southern Iran. (22988776)
2012
26
Status of vitamin D in children with sickle cell disease living in Madrid, Spain. (22949161)
2012
27
Mutation -538 T/C in bone morphogenetic protein 4 do not increase the risk in sickle-cell disease with orthopedic complications but strongly associated with increased LDH and uric acid level in Indian patients from Chhattisgarh and Jharkhand states. (20144598)
2010
28
The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease. (19357842)
2009
29
Pulmonary hypertension and cor pulmonale during severe acute chest syndrome in sickle cell disease. (18174543)
2008
30
Alcohol abuse in sickle cell disease: the Pisces Project. (17882609)
2007
31
Erythroid-specific expression of beta-globin by the sleeping beauty transposon for Sickle cell disease. (17508724)
2007
32
Antibiotics for treating acute chest syndrome in people with sickle cell disease. (17443613)
2007
33
Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain. (16987799)
2006
34
Platelet P-selectin and platelet mass, volume and component in sickle cell disease: relationship to genotype. (16051315)
2006
35
High frequency of partial DIIIa and DAR alleles found in sickle cell disease patients suggests increased risk of alloimmunization to RhD. (15713129)
2005
36
Acute chest syndrome in adult sickle cell disease in eastern Saudi Arabia. (15822496)
2005
37
Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. (14687036)
2004
38
Induced sputum versus bronchoalveolar lavage during acute chest syndrome in sickle cell disease. (12969866)
2003
39
Pain management and symptoms of substance dependence among patients with sickle cell disease. (12948577)
2003
40
Strategy linking several analytical methods of neonatal screening for sickle cell disease. (11373853)
2001
41
The acute chest syndrome of sickle cell disease. (10861328)
2000
42
Elevated serum and bronchoalveolar lavage fluid levels of interleukin 8 and granulocyte colony-stimulating factor associated with the acute chest syndrome in patients with sickle cell disease. (11122088)
2000
43
Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. (10861320)
2000
44
Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo. (9694250)
1998
45
Increased erythrocyte phosphatidylserine exposure in sickle cell disease: flow-cytometric measurement and clinical associations. (8781447)
1996
46
Determinants of haemoglobin level in steady-state homozygous sickle cell disease. (8562387)
1996
47
The significance of recurrent tonsillitis in sickle cell disease. (7923845)
1994
48
Sickle cell disease pathophysiology. (8353318)
1993
49
The clinical significance of serum transferrin receptor levels in sickle cell disease. (8398834)
1993
50
A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test. (4743350)
1973

Variations for Sickle Cell Disease

About this section

Expression for genes affiliated with Sickle Cell Disease

About this section
Search GEO for disease gene expression data for Sickle Cell Disease.

Pathways for genes affiliated with Sickle Cell Disease

About this section

Pathways related to Sickle Cell Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9HBD, HBB
29.6HBD, HBG2, HBB
3
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
9.6ALAS2, UGT1A1
49.3EPOR, EPO
5
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b736
a4b1 and a4b7 Integrin signaling36
9.3EPOR, EPO
6
Show member pathways
9.1SELL, HBB, HBD, HBG2

Compounds for genes affiliated with Sickle Cell Disease

About this section

Compounds related to Sickle Cell Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1de-oxy4310.3HBG2, HBB
2s-nitrosocysteine4310.3HBB, HBG2
38-aminoquinoline4310.2HBG2, G6PD
4phenazopyridine49 43 1212.2G6PD, HBG2
5phenazine methosulfate4310.2HBG2, G6PD
6no-dimethylhydroxylamine4310.2HBG2, G6PD
7sodium nitrite43 4911.1G6PD, HBG2
8dimethyl sulfate4310.1HBG1, HBB
9phenylhydrazine4310.0HBG2, EPO
10primaquine43 49 1212.0G6PD, HBG2
11iron dextran43 1211.0HBB, EPO
125-aminolevulinic acid43 2411.0ALAS2, HBG1, HBB
13aclacinomycin439.9EPOR, HBG1
14succinylacetone439.9EPO, HBB
15hemophan439.8EPO, SELL
16porphobilinogen43 24 1211.8EPOR, HBG1, HBB
17neomycin439.8EPO, HBG1, HBB
18erex439.7EPOR, EPO
19nesp439.7EPO, EPOR
20an 69439.7EPO, SELL
21pp 100439.7EPO, EPOR
22acetaminophen43 2 49 24 1213.6G6PD, HBG2, UGT1A1
23malondialdehyde439.6EPO, HBG2, G6PD
24pimonidazole439.6EPO, EPOR
25zinc protoporphyrin439.6EPO, G6PD
26lamotrigine43 49 1211.6UGT1A1, EPO
27lenalidomide43 1210.6EPO, EPOR
28glucose 6-phosphate43 2410.5UGT1A1, G6PD, HBB, HBG2
29azathioprine43 2 49 1212.5G6PD, HBG1, HBB, EPO
30methylcellulose439.4EPOR, HBG1, EPO
31benzidine439.4HBG1, HBB, UGT1A1, EPO
32periodate439.4SELL, GYPE
33butyrate439.4HBG1, HBB, EPO, ALAS2
34heme28 24 1211.4ALAS2, HBG2, HBG1, HBD, HBB
35phenol43 2410.2UGT1A1, G6PD, GYPE
36lactose43 1210.1G6PD, SELL, GYPE
37lactate438.9EPO, G6PD, SELL, HBG2, HBB
38aspartate438.9ALAS2, EPO, HBB, UGT1A1, G6PD
39phosphatidylserine43 28 1210.9HBG2, SELL, G6PD, GYPE
40creatinine438.8EPO, G6PD, SELL, HBG2
41sialic acid438.7EPO, SELL, GYPE
4223-diphosphoglycerate438.7G6PD, GYPE, EPO, HBG2, HBB
43hydroxyurea43 49 1210.6HBB, HBG2, SELL, EPO, HBG1, UGT1A1
44thymidine43 249.5UGT1A1, HBB, EPO, EPOR
45alanine438.4UGT1A1, EPOR, SELL, HBB, HBG2, ALAS2
46cisplatin43 49 59 1211.2UGT1A1, G6PD, EPOR, EPO
47arginine438.1EPOR, HBB, HBG2, GYPE, ALAS2, UGT1A1
48serine437.8HBB, SELL, GYPE, G6PD, EPOR, KLF1
49iron43 248.7HBB, ALAS2, EPOR, EPO, HBG1, HBG2
50oxygen43 247.5EPO, EPOR, G6PD, HBD, SELL, HBB

GO Terms for genes affiliated with Sickle Cell Disease

About this section

Cellular components related to Sickle Cell Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.3HBD, HBG2, HBB
2hemoglobin complexGO:00058339.2HBB, HBG2, HBD, HBG1
3integral component of plasma membraneGO:00058877.8BCAM, GYPE, EPOR, SELL, UGT1A1

Biological processes related to Sickle Cell Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:00302189.7ALAS2, KLF1
2hemoglobin biosynthetic processGO:00425419.4EPO, ALAS2
3porphyrin-containing compound metabolic processGO:00067789.3ALAS2, UGT1A1
4erythrocyte maturationGO:00432499.3G6PD, EPO, KLF1
5blood coagulationGO:00075968.8HBG1, HBD, HBG2, HBB, SELL

Molecular functions related to Sickle Cell Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.3HBB, HBG2, HBD, HBG1
2iron ion bindingGO:00055069.3HBG1, HBD, HBG2, HBB
3oxygen bindingGO:00198259.2HBG1, HBD, HBG2, HBB
4heme bindingGO:00200379.0HBB, HBG2, HBD, HBG1

Products for genes affiliated with Sickle Cell Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sickle Cell Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet