MCID: SCK005
MIFTS: 61

Sickle Cell Disease malady

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

Summaries for Sickle Cell Disease

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Genetics Home Reference:23 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 thalassemia 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:65 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

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Sickle Cell Disease, Aliases & Descriptions:

Name: Sickle Cell Disease 21 22 23 45 4
Sickling Disorder Due to Hemoglobin S 23 62
Sickle Cell Disorders 23 62
Hbs Disease 23 62
 
Haemoglobin S Disease 62
Hemoglobin S Disease 23
Anemia, Sickle Cell 62
Scd 23


Classifications:

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


External Ids:

ICD1027 D57

Related Diseases for Sickle Cell Disease

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

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia31.1UGT1A1, HBG1, HBS1L, KLF1, HBD, HBG2
2glucose-6-phosphate dehydrogenase deficiency30.8HBG2, G6PD, UGT1A1
3hemoglobinopathy30.8HBS1L
4sickle cell anemia30.6HBS1L, HBD, HBG2, HBB
5malaria30.6G6PD, HBB, GYPE
6pyruvate kinase deficiency30.4G6PD
7paroxysmal nocturnal hemoglobinuria30.3SELL, G6PD
8iron deficiency anemia30.3G6PD, EPO, HBG2
9breast cancer30.2EPOR, SELL, G6PD, HBB, UGT1A1
10leukemia30.2HBB, EPOR, EPO, ALAS2, SELL, KLF1
11deficiency anemia30.1KLF1, ALAS2, EPO, EPOR, G6PD, HBB
12hereditary spherocytosis30.1UGT1A1, G6PD
13plasmodium falciparum malaria30.1G6PD, HBB
14thrombocytosis30.1EPO, EPOR
15neutropenia30.0UGT1A1, EPOR, EPO
16hemolytic anemia30.0HBG2, HBB, G6PD, EPO, UGT1A1
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
29hepatitis10.4
30hypoxia10.4
31bacteremia10.4
32central retinal artery occlusion10.4
33bone marrow necrosis10.4
34arthritis10.3
35hematopoietic stem cell transplantation10.3
36ischemia10.3
37splenomegaly10.3
38blindness10.3
39glomerulonephritis10.3
40intrahepatic cholestasis10.3
41hemoglobin c disease10.3
42splenic infarction10.3
43splenic abscess10.3
44bronchitis10.3
45hypersplenism10.3
46cholestasis10.3
47neuropathy10.3
48sickle beta thalassemia10.3
49chronic pain10.3
50hereditary persistence of fetal hemoglobin - sickle cell disease10.3

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



Diseases related to sickle cell disease

Symptoms for Sickle Cell Disease

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Drugs & Therapeutics for Sickle Cell Disease

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Drug clinical trials:

Search ClinicalTrials for Sickle Cell Disease

Search NIH Clinical Center for Sickle Cell Disease

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Sickle Cell Disease

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Genetic tests related to Sickle Cell Disease:

id Genetic test Affiliating Genes
1 Sickle Cell Disease22 HBB

Anatomical Context for Sickle Cell Disease

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MalaCards organs/tissues related to Sickle Cell Disease:

33
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

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MGI Mouse Phenotypes related to Sickle Cell Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4KLF1, ALAS2, EPO, SELL, HBB
2MP:00053708.2HBB, SELL, EPOR, EPO, KLF1
3MP:00053808.1KLF1, ALAS2, EPO, EPOR, G6PD, HBB
4MP:00053857.8HBB, SELL, G6PD, EPOR, EPO, BCAM
5MP:00053977.5HBB, SELL, G6PD, EPOR, EPO, ALAS2
6MP:00053767.1HBB, SELL, G6PD, EPOR, EPO, ALAS2

Publications for Sickle Cell Disease

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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

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Expression for genes affiliated with Sickle Cell Disease

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Search GEO for disease gene expression data for Sickle Cell Disease.

Pathways for genes affiliated with Sickle Cell Disease

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Pathways related to Sickle Cell Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9HBB, HBD
29.6HBB, HBG2, HBD
3
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.6ALAS2, UGT1A1
49.3EPO, EPOR
5
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b738
a4b1 and a4b7 Integrin signaling38
9.3EPO, EPOR
6
Show member pathways
9.1HBD, HBG2, HBB, SELL

Compounds for genes affiliated with Sickle Cell Disease

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Compounds related to Sickle Cell Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1de-oxy4510.3HBG2, HBB
2s-nitrosocysteine4510.3HBB, HBG2
38-aminoquinoline4510.2HBG2, G6PD
4phenazopyridine51 45 1312.2G6PD, HBG2
5phenazine methosulfate4510.2HBG2, G6PD
6no-dimethylhydroxylamine4510.2HBG2, G6PD
7sodium nitrite45 5111.1G6PD, HBG2
8dimethyl sulfate4510.1HBG1, HBB
9phenylhydrazine4510.0HBG2, EPO
10primaquine45 51 1312.0G6PD, HBG2
11iron dextran45 1311.0HBB, EPO
125-aminolevulinic acid45 2611.0ALAS2, HBG1, HBB
13aclacinomycin459.9EPOR, HBG1
14succinylacetone459.9EPO, HBB
15hemophan459.8EPO, SELL
16porphobilinogen45 26 1311.8EPOR, HBG1, HBB
17neomycin459.8EPO, HBG1, HBB
18erex459.7EPOR, EPO
19nesp459.7EPO, EPOR
20an 69459.7EPO, SELL
21pp 100459.7EPO, EPOR
22acetaminophen45 3 51 26 1313.6G6PD, HBG2, UGT1A1
23malondialdehyde459.6EPO, HBG2, G6PD
24pimonidazole459.6EPO, EPOR
25zinc protoporphyrin459.6EPO, G6PD
26lamotrigine45 51 1311.6UGT1A1, EPO
27lenalidomide45 1310.6EPO, EPOR
28glucose 6-phosphate45 2610.5UGT1A1, G6PD, HBB, HBG2
29azathioprine45 3 51 1312.5G6PD, HBG1, HBB, EPO
30methylcellulose459.4EPOR, HBG1, EPO
31benzidine459.4HBG1, HBB, UGT1A1, EPO
32periodate459.4SELL, GYPE
33butyrate459.4HBG1, HBB, EPO, ALAS2
34heme30 26 1311.4ALAS2, HBG2, HBG1, HBD, HBB
35phenol45 2610.2UGT1A1, G6PD, GYPE
36lactose45 1310.1G6PD, SELL, GYPE
37lactate458.9EPO, G6PD, SELL, HBG2, HBB
38aspartate458.9ALAS2, EPO, HBB, UGT1A1, G6PD
39phosphatidylserine45 30 1310.9HBG2, SELL, G6PD, GYPE
40creatinine458.8EPO, G6PD, SELL, HBG2
41sialic acid458.7EPO, SELL, GYPE
4223-diphosphoglycerate458.7G6PD, GYPE, EPO, HBG2, HBB
43hydroxyurea45 51 1310.6HBB, HBG2, SELL, EPO, HBG1, UGT1A1
44thymidine45 269.5UGT1A1, HBB, EPO, EPOR
45alanine458.4UGT1A1, EPOR, SELL, HBB, HBG2, ALAS2
46cisplatin45 51 61 1311.2UGT1A1, G6PD, EPOR, EPO
47arginine458.1EPOR, HBB, HBG2, GYPE, ALAS2, UGT1A1
48serine457.8HBB, SELL, GYPE, G6PD, EPOR, KLF1
49iron45 268.7HBB, ALAS2, EPOR, EPO, HBG1, HBG2
50oxygen45 267.5EPO, EPOR, G6PD, HBD, SELL, HBB

GO Terms for genes affiliated with Sickle Cell Disease

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Cellular components related to Sickle Cell Disease according to GeneCards/GeneDecks:

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/GeneDecks:

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

Molecular functions related to Sickle Cell Disease according to GeneCards/GeneDecks:

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

Products for genes affiliated with Sickle Cell Disease

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Sources for Sickle Cell Disease

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet