SCD
MCID: SCK005
MIFTS: 62

Sickle Cell Disease (SCD) malady

Genetic diseases (common), Immune diseases, Blood diseases categories
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Summaries for Sickle Cell Disease

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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 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.

Wikipedia:65 Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or sometimes 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 19 20 21 44
Sickling Disorder Due to Hemoglobin S 21 62
Sickle Cell Disorders 21 62
Hbs Disease 21 62
 
Haemoglobin S Disease 62
Hemoglobin S Disease 21
Anemia, Sickle Cell 62
Scd 21


Classifications:

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


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ICD1025 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 217)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinopathy31.4HBS1L
2beta thalassemia31.2HBB, EPO
3sickle cell anemia31.0HBS1L, HBD, HBG2, HBB
4pyruvate kinase deficiency31.0G6PD
5alpha thalassemia30.7UGT1A1, HBG1, HBB, G6PD
6malaria30.5G6PD, HBB, GYPE
7iron deficiency anemia30.5G6PD, EPO, HBG2
8hereditary spherocytosis30.4UGT1A1, G6PD
9plasmodium falciparum malaria30.4G6PD, HBB
10thrombocytosis30.0EPO, EPOR
11neutropenia30.0UGT1A1, EPOR, EPO
12chronic myeloid leukemia29.9EPO, G6PD, EPOR
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
18thalassemia10.8
19splenic sequestration10.8
20priapism10.7
21hypertension10.7
22endotheliitis10.6
23avascular necrosis of the femoral head10.6
24pulmonary hypertension10.6
25cerebritis10.6
26retinitis10.6
27asthma10.5
28cholelithiasis10.5
29pneumonia10.5
30retinal artery occlusion10.5
31lysinuric protein intolerance10.4G6PD
32hepatitis10.4
335q- syndrome10.4EPO
34gilbert syndrome10.4UGT1A1
35hereditary persistence of fetal hemoglobin10.4HBB, KLF1
36fetal hemoglobin quantitative trait locus 110.4HBG2, HBG1
37central retinal artery occlusion10.4
38bone marrow necrosis10.4
39hypoxia10.4
40bacteremia10.4
41histiocytosis-lymphadenopathy plus syndrome10.4HBB, G6PD
42methemoglobinemia10.4HBG2, G6PD
43arthritis10.3
44hematopoietic stem cell transplantation10.3
45hypersplenism10.3
46splenomegaly10.3
47blindness10.3
48phenylketonuria10.3HBB, G6PD
49glomerulonephritis10.3
50hemoglobin c 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-RT40:

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 Disease20 HBB

Anatomical Context for Sickle Cell Disease

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MalaCards organs/tissues related to Sickle Cell Disease:

32
Bone, Endothelial, Lung, Bone marrow, Neutrophil, Liver, Placenta, Testes, Kidney, Brain, Heart, Monocytes, Spleen, 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:

36
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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Articles related to Sickle Cell Disease:

(show top 50)    (show all 1059)
idTitleAuthorsYear
1
Attitudes toward patients with sickle cell disease in a multicenter sample of emergency department providers. (25356894)
2014
2
Erythropoietin levels in patients with sickle cell disease do not correlate with known inducers of erythropoietin. (25405915)
2014
3
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
4
Ectodermal dysplasia associated with sickle cell disease. (25343049)
2014
5
Potential role for statins in sickle cell disease. (23281161)
2013
6
Morbidity among child travellers with sickle-cell disease visiting tropical areas: an observational study in a French tertiary care centre. (23661574)
2013
7
Natural antiband 3 antibodies in patients with sickle cell disease. (23643401)
2013
8
Morphine is associated with acute chest syndrome in children hospitalized with sickle cell disease. (24340416)
2013
9
Acute, bilateral, concurrent central retinal artery occlusion in sickle cell disease after use of tadalafil (Cialis). (24052082)
2013
10
Regulatory B-cell compartment in transfused alloimmunized and non-alloimmunized patients with sickle cell disease. (23720018)
2013
11
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way? (23827693)
2013
12
Interplay between coagulation and vascular inflammation in sickle cell disease. (23593937)
2013
13
Airways obstruction and pulmonary capillary blood volume in children with sickle cell disease. (24214657)
2013
14
PedsQLa8c sickle cell disease module: feasibility, reliability, and validity. (23441057)
2013
15
Pattern of chronic lung lesions in adults with sickle cell disease in Lagos, Nigeria. (24294468)
2013
16
Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies. (24319205)
2013
17
Expression of regulatory platelet microRNAs in patients with sickle cell disease. (23593351)
2013
18
I^-globin gene transfer to human bone marrow for sickle cell disease. (23863630)
2013
19
The effect of hydroxcarbamide therapy on survival of children with sickle cell disease. (23590693)
2013
20
Oxidative stress in sickle cell disease: An overview of erythrocyte redox metabolism and current antioxidant therapeutic strategies. (24002011)
2013
21
Anomalous insertion of the papillary muscle in a patient with sickle cell disease: a normal variant with no left ventricular outflow obstruction. (22989742)
2012
22
Reproductive attitudes and behaviors in people with sickle cell disease or sickle cell trait: a qualitative interpretive meta-synthesis. (23078010)
2012
23
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
24
Polymorphisms associated with sickle cell disease in Southern Iran. (22988776)
2012
25
Status of vitamin D in children with sickle cell disease living in Madrid, Spain. (22949161)
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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Expression for genes affiliated with Sickle Cell Disease

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Expression patterns in normal tissues for genes affiliated with Sickle Cell Disease

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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 biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
9.6ALAS2, UGT1A1
49.3EPO, EPOR
5
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
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-oxy4410.3HBG2, HBB
2s-nitrosocysteine4410.3HBB, HBG2
38-aminoquinoline4410.2HBG2, G6PD
4phenazopyridine50 44 1112.2G6PD, HBG2
5phenazine methosulfate4410.2HBG2, G6PD
6no-dimethylhydroxylamine4410.2HBG2, G6PD
7sodium nitrite44 5011.1G6PD, HBG2
8dimethyl sulfate4410.1HBG1, HBB
9phenylhydrazine4410.0HBG2, EPO
10primaquine44 50 1112.0G6PD, HBG2
11iron dextran44 1111.0HBB, EPO
125-aminolevulinic acid44 2411.0ALAS2, HBG1, HBB
13aclacinomycin449.9EPOR, HBG1
14succinylacetone449.9EPO, HBB
15hemophan449.8EPO, SELL
16porphobilinogen44 24 1111.8EPOR, HBG1, HBB
17neomycin449.8EPO, HBG1, HBB
18erex449.7EPOR, EPO
19nesp449.7EPO, EPOR
20an 69449.7EPO, SELL
21pp 100449.7EPO, EPOR
22acetaminophen44 2 50 24 1113.6G6PD, HBG2, UGT1A1
23malondialdehyde449.6EPO, HBG2, G6PD
24pimonidazole449.6EPO, EPOR
25zinc protoporphyrin449.6EPO, G6PD
26lamotrigine44 50 1111.6UGT1A1, EPO
27lenalidomide44 1110.6EPO, EPOR
28glucose 6-phosphate44 2410.5UGT1A1, G6PD, HBB, HBG2
29azathioprine44 2 50 1112.5G6PD, HBG1, HBB, EPO
30methylcellulose449.4EPOR, HBG1, EPO
31benzidine449.4HBG1, HBB, UGT1A1, EPO
32periodate449.4SELL, GYPE
33butyrate449.4HBG1, HBB, EPO, ALAS2
34heme28 24 1111.4ALAS2, HBG2, HBG1, HBD, HBB
35phenol44 2410.2UGT1A1, G6PD, GYPE
36lactose44 1110.1G6PD, SELL, GYPE
37lactate448.9EPO, G6PD, SELL, HBG2, HBB
38aspartate448.9ALAS2, EPO, HBB, UGT1A1, G6PD
39phosphatidylserine44 28 1110.9HBG2, SELL, G6PD, GYPE
40creatinine448.8EPO, G6PD, SELL, HBG2
41sialic acid448.7EPO, SELL, GYPE
4223-diphosphoglycerate448.7G6PD, GYPE, EPO, HBG2, HBB
43hydroxyurea44 50 1110.6HBB, HBG2, SELL, EPO, HBG1, UGT1A1
44thymidine44 249.5UGT1A1, HBB, EPO, EPOR
45alanine448.4UGT1A1, EPOR, SELL, HBB, HBG2, ALAS2
46cisplatin44 50 61 1111.2UGT1A1, G6PD, EPOR, EPO
47arginine448.1EPOR, HBB, HBG2, GYPE, ALAS2, UGT1A1
48serine447.8HBB, SELL, GYPE, G6PD, EPOR, KLF1
49iron44 248.7HBB, ALAS2, EPOR, EPO, HBG1, HBG2
50oxygen44 247.5EPO, 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:0725629.3HBD, HBG2, HBB
2hemoglobin complexGO:0058339.2HBB, HBG2, HBD, HBG1
3integral component of plasma membraneGO:0058877.8BCAM, GYPE, EPOR, SELL, UGT1A1

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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Sources for Sickle Cell Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet