SCD
MCID: SCK005
MIFTS: 58

Sickle Cell Disease (SCD) malady

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

Summaries for Sickle Cell Disease

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66Wikipedia, 20GeneReviews, 34MalaCards
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Wikipedia:66 Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood... more...

MalaCards: Sickle Cell Disease, also known as sickling disorder due to hemoglobin s, is related to hemoglobinopathy and beta thalassemia. 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.

GeneReviews summary for sickle

Aliases & Classifications for Sickle Cell Disease

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22Genetics Home Reference, 63UMLS, 20GeneReviews, 21GeneTests, 46Novoseek, 26ICD10
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Classifications:

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


Aliases & Descriptions:

sickle cell disease 20 21 22 46
sickling disorder due to hemoglobin s 22
sickle cell disorders 22
hemoglobin s disease 22
anemia, sickle cell 63
shwachman syndrome 63
hbs disease 22
scd 22


External Ids:

ICD1026 D57

Related Diseases for Sickle Cell Disease

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18GeneCards, 19GeneDecks
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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 213)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinopathy30.8HBS1L
2beta thalassemia30.7HBB, EPO
3sickle cell anemia30.7HBB, G6PD, HBG1
4alpha thalassemia30.6UGT1A1, HBG1, HBB, G6PD
5malaria30.5G6PD, HBB, GYPE
6pyruvate kinase deficiency30.4G6PD
7paroxysmal nocturnal hemoglobinuria30.3SELL, G6PD
8iron deficiency anemia30.3G6PD, EPO, HBG2
9hereditary spherocytosis30.1UGT1A1, G6PD
10plasmodium falciparum malaria30.1G6PD, HBB
11breast cancer30.1EPOR, SELL, G6PD, HBB, UGT1A1
12thrombocytosis30.0EPO, EPOR
13neutropenia30.0UGT1A1, EPOR, EPO
14chronic myeloid leukemia30.0EPO, G6PD, EPOR
15hemolytic anemia30.0HBG2, HBB, G6PD, EPO, UGT1A1
16deficiency anemia30.0KLF1, ALAS2, EPO, EPOR, G6PD, HBB
17leukemia29.8HBB, EPOR, EPO, ALAS2, SELL, KLF1
18acute chest syndrome11.1
19thalassemia10.8
20splenic sequestration10.7
21priapism10.7
22hypertension10.6
23endotheliitis10.6
24avascular necrosis of the femoral head10.6
25cerebritis10.6
26asthma10.5
27retinitis10.5
28cholelithiasis10.5
29pneumonia10.4
30hepatitis10.4
31retinal artery occlusion10.4
32hypoxia10.4
33bacteremia10.4
34hypersplenism10.3
35central retinal artery occlusion10.3
36arthritis10.3
37ischemia10.3
38bone marrow necrosis10.3
39splenomegaly10.3
40blindness10.3
41hematopoietic stem cell transplantation10.3
42hemoglobin c disease10.3
43splenic abscess10.3
44bronchitis10.3
45glomerulonephritis10.3
46neuropathy10.3
47hemoglobin ss10.3
48chronic pain10.3
49thromboembolism10.3
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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Sickle Cell Disease

Drug clinical trials:

Search ClinicalTrials for Sickle Cell Disease

Search NIH Clinical Center for Sickle Cell Disease

Search CenterWatch for Sickle Cell Disease

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Sickle Cell Disease

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21GeneTests
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Genetic tests related to Sickle Cell Disease:

id Genetic test Affiliating Genes
1 Sickle Cell Disease21 HBB

Anatomical Context for Sickle Cell Disease

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34MalaCards
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MalaCards organs/tissues related to Sickle Cell Disease:

34
Bone, Endothelial, Lung, Bone marrow, Testes, Liver, Kidney, Placenta, Spleen, Brain, Heart, Monocytes, Tonsil, Breast, Pituitary, Myeloid, B cells, Whole blood, Retina, Salivary gland, Spinal cord, Colon

Animal Models for Sickle Cell Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sickle Cell Disease:

38
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

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53PubMed
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Articles related to Sickle Cell Disease:

(show top 50)    (show all 1018)
idTitleAuthorsYear
1
Prospective evaluation for respiratory pathogens in children with sickle cell disease and acute respiratory illness. (24123899)
2014
2
Potential role for statins in sickle cell disease. (23281161)
2013
3
Morbidity among child travellers with sickle-cell disease visiting tropical areas: an observational study in a French tertiary care centre. (23661574)
2013
4
Natural antiband 3 antibodies in patients with sickle cell disease. (23643401)
2013
5
Morphine is associated with acute chest syndrome in children hospitalized with sickle cell disease. (24340416)
2013
6
Acute, bilateral, concurrent central retinal artery occlusion in sickle cell disease after use of tadalafil (Cialis). (24052082)
2013
7
Regulatory B-cell compartment in transfused alloimmunized and non-alloimmunized patients with sickle cell disease. (23720018)
2013
8
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way? (23827693)
2013
9
Interplay between coagulation and vascular inflammation in sickle cell disease. (23593937)
2013
10
Airways obstruction and pulmonary capillary blood volume in children with sickle cell disease. (24214657)
2013
11
PedsQLa8c sickle cell disease module: feasibility, reliability, and validity. (23441057)
2013
12
Pattern of chronic lung lesions in adults with sickle cell disease in Lagos, Nigeria. (24294468)
2013
13
Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies. (24319205)
2013
14
Expression of regulatory platelet microRNAs in patients with sickle cell disease. (23593351)
2013
15
I^-globin gene transfer to human bone marrow for sickle cell disease. (23863630)
2013
16
The effect of hydroxcarbamide therapy on survival of children with sickle cell disease. (23590693)
2013
17
Oxidative stress in sickle cell disease: An overview of erythrocyte redox metabolism and current antioxidant therapeutic strategies. (24002011)
2013
18
Hematopoietic stem-cell transplantation for sickle cell disease: current evidence and opinions. (24082994)
2013
19
Acute pulmonary complications of sickle cell disease. (24275567)
2013
20
Anomalous insertion of the papillary muscle in a patient with sickle cell disease: a normal variant with no left ventricular outflow obstruction. (22989742)
2012
21
Reproductive attitudes and behaviors in people with sickle cell disease or sickle cell trait: a qualitative interpretive meta-synthesis. (23078010)
2012
22
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
23
Polymorphisms associated with sickle cell disease in Southern Iran. (22988776)
2012
24
Status of vitamin D in children with sickle cell disease living in Madrid, Spain. (22949161)
2012
25
A novel approach to pain management in persons with sickle cell disease. (23243787)
2012
26
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
27
The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease. (19357842)
2009
28
Pulmonary hypertension and cor pulmonale during severe acute chest syndrome in sickle cell disease. (18174543)
2008
29
Alcohol abuse in sickle cell disease: the Pisces Project. (17882609)
2007
30
Erythroid-specific expression of beta-globin by the sleeping beauty transposon for Sickle cell disease. (17508724)
2007
31
Antibiotics for treating acute chest syndrome in people with sickle cell disease. (17443613)
2007
32
Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain. (16987799)
2006
33
Platelet P-selectin and platelet mass, volume and component in sickle cell disease: relationship to genotype. (16051315)
2006
34
High frequency of partial DIIIa and DAR alleles found in sickle cell disease patients suggests increased risk of alloimmunization to RhD. (15713129)
2005
35
Acute chest syndrome in adult sickle cell disease in eastern Saudi Arabia. (15822496)
2005
36
Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. (14687036)
2004
37
Induced sputum versus bronchoalveolar lavage during acute chest syndrome in sickle cell disease. (12969866)
2003
38
Pain management and symptoms of substance dependence among patients with sickle cell disease. (12948577)
2003
39
Strategy linking several analytical methods of neonatal screening for sickle cell disease. (11373853)
2001
40
The acute chest syndrome of sickle cell disease. (10861328)
2000
41
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
42
Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. (10861320)
2000
43
Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo. (9694250)
1998
44
Increased erythrocyte phosphatidylserine exposure in sickle cell disease: flow-cytometric measurement and clinical associations. (8781447)
1996
45
Determinants of haemoglobin level in steady-state homozygous sickle cell disease. (8562387)
1996
46
The significance of recurrent tonsillitis in sickle cell disease. (7923845)
1994
47
Sickle cell disease pathophysiology. (8353318)
1993
48
The clinical significance of serum transferrin receptor levels in sickle cell disease. (8398834)
1993
49
Avascular necrosis of the femoral head in sickle-cell disease. A series from the Guinea Savannah of Nigeria. (3968138)
1985
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sickle Cell Disease:

1 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
2HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
3HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
4HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
5HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
6HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
7HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
8HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
9HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenic, otherrs334GRCh37Chr 11, 5248232: 5248232
10SBDSNM_016038.2(SBDS): c.119delG (p.Ser41Alafs)deletionPathogenicrs113993990GRCh37Chr 7, 66460286: 66460286
11SBDSNM_016038.2(SBDS): c.258+1G> Csingle nucleotide variantPathogenicrs113993992GRCh37Chr 7, 66459198: 66459198
12SBDSNM_016038.2(SBDS): c.377G> C (p.Arg126Thr)single nucleotide variantPathogenicrs113993995GRCh37Chr 7, 66458286: 66458286
13SBDSNM_016038.2(SBDS): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs113993996GRCh37Chr 7, 66456243: 66456243
14SBDSNM_016038.2(SBDS): c.624+1G> Csingle nucleotide variantPathogenicrs113993997GRCh37Chr 7, 66456123: 66456123
15SBDSNM_016038.2(SBDS): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicrs113993998GRCh37Chr 7, 66453459: 66453459
16SBDSNM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter)indelPathogenicrs113993991GRCh37Chr 7, 66459274: 66459274
17SBDSNM_016038.2(SBDS): c.258+2T> Csingle nucleotide variantPathogenic, risk factorrs113993993GRCh37Chr 7, 66459197: 66459197
18SBDSNM_016038.2(SBDS): c.24C> A (p.Asn8Lys)single nucleotide variantPathogenicrs28942099GRCh37Chr 7, 66460381: 66460381

Expression for genes affiliated with Sickle Cell Disease

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sickle Cell Disease

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

Pathways for genes affiliated with Sickle Cell Disease

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters
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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
9.9HBD, HBB
29.6HBD, HBG2, HBB
3
Show member pathways
tetrapyrrole biosynthesis39
heme degradation39
Heme Biosynthesis39
heme biosynthesis39
heme biosynthesis from uroporphyrinogen-III I39
9.6ALAS2, UGT1A1
49.3EPOR, EPO
5
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b739
a4b1 and a4b7 Integrin signaling39
9.3EPOR, EPO
6
Show member pathways
9.1SELL, HBB, HBD, HBG2

Compounds for genes affiliated with Sickle Cell Disease

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 3BitterDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Sickle Cell Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1de-oxy4610.3HBG2, HBB
2s-nitrosocysteine4610.3HBB, HBG2
38-aminoquinoline4610.2HBG2, G6PD
4phenazopyridine52 46 1212.2G6PD, HBG2
5phenazine methosulfate4610.2HBG2, G6PD
6no-dimethylhydroxylamine4610.2HBG2, G6PD
7sodium nitrite46 5211.1G6PD, HBG2
8dimethyl sulfate4610.1HBG1, HBB
9phenylhydrazine4610.0HBG2, EPO
10primaquine46 52 1212.0G6PD, HBG2
11iron dextran46 1211.0HBB, EPO
125-aminolevulinic acid46 2511.0ALAS2, HBG1, HBB
13aclacinomycin469.9EPOR, HBG1
14succinylacetone469.9EPO, HBB
15hemophan469.8EPO, SELL
16porphobilinogen46 25 1211.8EPOR, HBG1, HBB
17neomycin469.8EPO, HBG1, HBB
18erex469.7EPOR, EPO
19nesp469.7EPO, EPOR
20an 69469.7EPO, SELL
21pp 100469.7EPO, EPOR
22acetaminophen46 3 52 25 1213.6G6PD, HBG2, UGT1A1
23malondialdehyde469.6EPO, HBG2, G6PD
24pimonidazole469.6EPO, EPOR
25zinc protoporphyrin469.6EPO, G6PD
26lamotrigine46 52 1211.6UGT1A1, EPO
27lenalidomide46 1210.6EPO, EPOR
28glucose 6-phosphate46 2510.5UGT1A1, G6PD, HBB, HBG2
29azathioprine46 3 52 1212.5G6PD, HBG1, HBB, EPO
30methylcellulose469.4EPOR, HBG1, EPO
31benzidine469.4HBG1, HBB, UGT1A1, EPO
32periodate469.4SELL, GYPE
33butyrate469.4HBG1, HBB, EPO, ALAS2
34heme30 25 1211.4ALAS2, HBG2, HBG1, HBD, HBB
35phenol46 2510.2UGT1A1, G6PD, GYPE
36lactose46 1210.1G6PD, SELL, GYPE
37lactate468.9EPO, G6PD, SELL, HBG2, HBB
38aspartate468.9ALAS2, EPO, HBB, UGT1A1, G6PD
39phosphatidylserine46 30 1210.9HBG2, SELL, G6PD, GYPE
40creatinine468.8EPO, G6PD, SELL, HBG2
41sialic acid468.7EPO, SELL, GYPE
4223-diphosphoglycerate468.7G6PD, GYPE, EPO, HBG2, HBB
43hydroxyurea46 52 1210.6HBB, HBG2, SELL, EPO, HBG1, UGT1A1
44thymidine46 259.5UGT1A1, HBB, EPO, EPOR
45alanine468.4UGT1A1, EPOR, SELL, HBB, HBG2, ALAS2
46cisplatin46 52 62 1211.2UGT1A1, G6PD, EPOR, EPO
47arginine468.1EPOR, HBB, HBG2, GYPE, ALAS2, UGT1A1
48serine467.8HBB, SELL, GYPE, G6PD, EPOR, KLF1
49iron46 258.7HBB, ALAS2, EPOR, EPO, HBG1, HBG2
50oxygen46 257.5EPO, EPOR, G6PD, HBD, SELL, HBB

GO Terms for genes affiliated with Sickle Cell Disease

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Sources:
17Gene Ontology
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Cellular components related to Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.3HBG2, HBB, HBD
2hemoglobin complexGO:0058339.2HBB, HBG2, HBD, HBG1
3integral component of plasma membraneGO:0058877.8SELL, UGT1A1, GYPE, BCAM, EPOR

Biological processes related to Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:0302189.7KLF1, ALAS2
2hemoglobin biosynthetic processGO:0425419.4ALAS2, EPO
3porphyrin-containing compound metabolic processGO:0067789.3ALAS2, UGT1A1
4erythrocyte maturationGO:0432499.3KLF1, EPO, G6PD
5blood coagulationGO:0075968.8HBG1, HBD, HBG2, HBB, SELL

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053449.3HBB, HBG2, HBD, HBG1
2iron ion bindingGO:0055069.3HBB, HBG2, HBD, HBG1
3oxygen bindingGO:0198259.2HBG1, HBD, HBG2, HBB
4heme bindingGO:0200379.0HBG1, HBD, HBG2, HBB

Products for genes affiliated with Sickle Cell Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sickle Cell Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet