SCD
MCID: SCK005
MIFTS: 62

Sickle Cell Disease (SCD) malady

Immune diseases, Blood diseases categories

Summaries for Sickle Cell Disease

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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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: Sickle Cell Disease, also known as sickling disorder due to hemoglobin s, is related to acute chest syndrome and hypertension. An important gene associated with Sickle Cell Disease is HBB (hemoglobin, beta), and among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. The drug sodium phenylbutyrate and the compounds oxygen and aspartate have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and endothelial, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

Wikipedia:63 Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood... more...

GeneReviews summary for sickle

Aliases & Classifications for Sickle Cell Disease

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 60UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

sickle cell disease 19 20 21 44
sickling disorder due to hemoglobin s 21
sickle cell disorders 21
hemoglobin s disease 21
anemia, sickle cell 60
shwachman syndrome 60
hbs disease 21
scd 21


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ICD1025 D57

Related Diseases for Sickle Cell Disease

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17GeneCards, 18GeneDecks
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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 279)
idRelated DiseaseScoreTop Affiliating Genes
1acute chest syndrome31.6PLA2G10
2hypertension30.9PGF, PPBP
3sickle cell anemia30.9HP, HBB, HBG1, G6PD
4vascular disease30.9G6PD, PPBP, HBG2, HP, SELP
5asthma30.7SELL, HBG2, PPBP
6beta thalassemia30.7HBB, EPO
7cholelithiasis30.7UGT1A1
8alpha thalassemia30.6G6PD, UGT1A1, HBG1, HBB
9hepatitis30.6UGT1A1, HP, SELL
10hemoglobinopathy30.5G6PD, EPO, HBG1, HBB, HP
11malaria30.5G6PD, RHD, HBB, HP
12ischemia30.5SELP, PGF, HP
13arthritis30.5HBB, HP, PGF
14cerebrovascular disease30.5SELP
15deficiency anemia30.2G6PD, PPBP, RHD, EPO, HBD, HBG1
16rheumatoid arthritis30.2KCNN4, PPBP, HP, PGF, PLA2G10, SELL
17breast cancer30.2G6PD, PPBP, UGT1A1, HBB, DLX4, PGF
18iron deficiency anemia30.2G6PD, EPO, HBG2
19hemoglobinuria30.2HP, G6PD
20proteinuria30.2PGF, HP
21diabetes mellitus30.1SELP, SELL, HP, RHD, G6PD
22adenocarcinoma30.1SELL, UGT1A1
23prostate cancer30.1HBG2
24leukemia30.0PPBP, RHD, EPO, HBB, HP, DLX4
25hemolytic anemia30.0G6PD, UGT1A1, RHD, EPO, HBB, HBG2
26atherosclerosis30.0G6PD, PPBP, HP, PGF, PLA2G10, SELL
27coronary artery disease30.0PPBP, UGT1A1, HP, PGF, PLA2G10, SELP
28thrombocytosis30.0PPBP, EPO, HP, SELP
29myocardial infarction30.0PPBP, PGF, SELL, SELP
30hereditary spherocytosis30.0RHD, UGT1A1, G6PD
31iron metabolism disease30.0G6PD, EPO, HBB
32plasmodium falciparum malaria30.0HP, HBB, G6PD
33hemochromatosis30.0HP, HBB
34chronic myeloid leukemia30.0SELP, EPO, PPBP, G6PD
35hepatitis c30.0HP
36cystic fibrosis30.0HBB, HP
37autoimmune hemolytic anemia30.0HP, G6PD
38peritonitis30.0SELP
39myeloid leukemia30.0HBG1
40pancreatitis30.0SELP
41splenic disease10.8
42thalassemia10.8
43splenic sequestration10.7
44priapism10.7
45cerebritis10.6
46adult syndrome10.5
47retinal disease10.5
48retinitis10.5
49pneumonia10.4
50kidney disease10.4

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



Diseases related to sickle cell disease

Clinical Features for Sickle Cell Disease

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Drugs & Therapeutics for Sickle Cell Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Sickle Cell Disease

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Sickle Cell Disease:

32
Bone, Lung, Endothelial, Bone marrow, Kidney, Liver, Testes, Placenta, Monocytes, Heart, Spleen, Brain, Tonsil, Breast, Pituitary, Salivary gland, Colon, Spinal cord, Myeloid, Retina, B cells, Whole blood

Animal Models for Sickle Cell Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sickle Cell Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.0HBB, EPO, RHD, G6PD, HP, PGF
2MP:000538510.9BCAM, KCNN4, G6PD, EPO, HBB, HP
3MP:000539710.7KCNN4, G6PD, RHD, EPO, HBB, HP

Publications for Sickle Cell Disease

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50PubMed
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Articles related to Sickle Cell Disease:

(show top 50)    (show all 1132)
idTitleAuthorsYear
1
Morphine is associated with acute chest syndrome in children hospitalized with sickle cell disease. (24340416)
2013
2
PedsQLa8c sickle cell disease module: feasibility, reliability, and validity. (23441057)
2013
3
Oxidative stress in sickle cell disease: An overview of erythrocyte redox metabolism and current antioxidant therapeutic strategies. (24002011)
2013
4
Hematopoietic stem cell transplantation for people with sickle cell disease. (23728664)
2013
5
Using photovoice to explore the unique life perspectives of youth with sickle cell disease: a pilot study. (23962960)
2013
6
Erythrocyte NADPH oxidase activity modulated by Rac GTPases, PKC, and plasma cytokines contributes to oxidative stress in sickle cell disease. (23349388)
2013
7
Benefits of delayed fetal hemoglobin (HbF) switching in sickle cell disease (SCD): a case report and review of the literature. (23588330)
2013
8
Not your typical frequent flyer: overcoming mythology in caring for sickle cell disease patients. (23514389)
2013
9
Chronic blood transfusion for primary and secondary stroke prevention in Nigerian children with sickle cell disease: a 5-year appraisal. (23956197)
2013
10
Management of sickle cell disease from childhood through adulthood. (24094945)
2013
11
Harnessing red cell membrane pathophysiology towards point-of-care diagnosis for sickle cell disease. (23504232)
2013
12
Safety and efficacy of 4 years of deferasirox treatment for sickle cell disease patients. (23215738)
2013
13
Endothelial Nitric Oxide Synthase (eNOS) Gene Polymorphism is Associated with Age Onset of Menarche in Sickle Cell Disease Females of India. (23795274)
2013
14
Sickle cell disease in pregnancy: trend and pregnancy outcomes at a tertiary hospital in Tanzania. (23418582)
2013
15
Dilemma in differentiating between acute osteomyelitis and bone infarction in children with sickle cell disease: the role of ultrasound. (23755165)
2013
16
National trends in incidence rates of hospitalization for stroke in children with sickle cell disease. (23151905)
2013
17
Kidney dysfunction and beta S-haplotypes in patients with sickle cell disease. (23904805)
2013
18
Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India. (23992124)
2013
19
Impact of sickle cell disease and thalassemias in infants on birth outcomes. (23859868)
2013
20
Busulfan, fludarabine, and alemtuzumab conditioning and unrelated cord blood transplantation in children with sickle cell disease. (23403308)
2013
21
Haemoglobinuria is associated with chronic kidney disease and its progression in patients with sickle cell anaemia. (24329963)
2013
22
Reversal of paracentral occlusive retinopathy in a case of sickle cell disease using exchange transfusion. (24044719)
2013
23
Comprehensive integrated care for patients with sickle cell disease in a remote aboriginal tribal population in southern India. (24347362)
2013
24
The prevalence of priapism in children and adolescents with sickle cell disease in Brazil. (22539365)
2012
25
Advanced sickle cell associated interstitial lung disease presenting with cor pulmonale in a Nigerian. (23271856)
2012
26
Therapeutic hemoglobin levels after gene transfer in I^-thalassemia mice and in hematopoietic cells of I^-thalassemia and sickle cells disease patients. (22479321)
2012
27
Oral considerations in the management of sickle cell disease: a case report. (22976572)
2012
28
Estimated incidence of sickle-cell disease in Aruba and St. Maarten suggests cost-effectiveness of a universal screening programme for St. Maarten. (20099768)
2009
29
Association between adenotonsillar hypertrophy, tonsillitis and painful crises in sickle cell disease. (19492171)
2009
30
Regulation of serum hepcidin levels in sickle cell disease. (19483160)
2009
31
Sickle cell disease in a carrier with pyruvate kinase deficiency. (19055867)
2008
32
Red cell and endothelial Lu/BCAM beyond sickle cell disease. (18948049)
2008
33
Evaluation of reticulated platelets in patients with sickle cell diseases. (17521711)
2007
34
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. (16708064)
2006
35
Prevalence and morbidity of G6PD deficiency in sickle cell disease in the homozygote]. (16295757)
2005
36
Follow-up of sickle cell disease patients with priapism treated by hydroxyurea. (15307105)
2004
37
B-CAM/LU expression and the role of B-CAM/LU activation in binding of low- and high-density red cells to laminin in sickle cell disease. (14755370)
2004
38
Gallbladder disease in young Congolese with sickle cell anemia: an ultrasound survey. (15088794)
2004
39
The placental-umbilical unit in sickle cell disease pregnancy: a model for studying in vivo functional adjustments to hypoxia in humans. (15668892)
2004
40
Placenta growth factor activates monocytes and correlates with sickle cell disease severity. (12714517)
2003
41
A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination. (14529320)
2003
42
Hypoxaemia in sickle cell disease: biomarker modulation and relevance to pathophysiology. (14602439)
2003
43
Red blood cells from patients with homozygous sickle cell disease provide a catalytic surface for factor Va inactivation by activated protein C. (11972526)
2002
44
Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell disease. (11835346)
2002
45
Priapism in sickle-cell disease; incidence, risk factors and complications - an international multicentre study. (12460353)
2002
46
Circulating growth hormone (GH), insulin-like growth factor-I (IGF-I) and free thyroxine, GH response to clonidine provocation and CT scanning of the hypothalamic-pituitary area in children with sickle cell disease. (8531260)
1995
47
Acute chest syndrome in adult Afro-Caribbean patients with sickle cell disease. Analysis of 81 episodes among 53 patients. (8122949)
1994
48
Sickle cell-hemoglobin E disease: clinical findings and implications. (1960615)
1991
49
Management of acute splenic sequestration crisis in sickle cell disease. (2136619)
1990
50
Clinical presentation of sickle cell-hemoglobin C disease. (3761071)
1986

Genetic Variations for Sickle Cell Disease

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Expression for genes affiliated with Sickle Cell Disease

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database
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Pathways related to Sickle Cell Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.7PPBP, HBD, HBG1, HBB, HBG2
210.7HBG2, HBB, HBG1, HBD
3
Hide members
10.6ALAS2, UGT1A1

Compounds for genes affiliated with Sickle Cell Disease

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Sickle Cell Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1oxygen44 2412.5PPBP, RHD, EPO, HBG1, HBB, HBG2
2aspartate4411.3HP, ALAS2, RHD, G6PD, UGT1A1, EPO
3lactate4411.3EPO, G6PD, PPBP, HBB, HBG2, HP
4creatinine4411.3SELL, PGF, HP, HBG2, EPO, PPBP
5tyrosine4411.3HBB, EPO, HP, PGF, SELL, SELP
6hydroxyurea44 49 1113.3UGT1A1, SELL, EPO, PPBP, HBG1, HBB
7iron44 2412.2ALAS2, EPO, RHD, HBB, HBG2, HP
8phosphatidylserine44 28 1113.2G6PD, HBG2, RHD, SELP, SELL, PLA2G10
9nitric oxide44 11 2413.2HBG1, HP, PGF, HBG2, HBB, PPBP
10alanine4411.2ALAS2, SELL, HP, HBG2, HBB, PPBP
11epinephrine44 11 2413.2G6PD, HP, SELL, SELP, HBG2, PPBP
1223-diphosphoglycerate4411.2HBB, EPO, HBG2, HP, G6PD
13benzidine4411.2HP, UGT1A1, HBB, HBG1, EPO
14malondialdehyde4411.1G6PD, HBG2, EPO, PPBP, HP
15glucose 6-phosphate44 2412.1G6PD, HP, UGT1A1, HBB, HBG2
16heme28 11 2413.1HBD, HBG2, ALAS2, HBB, HBG1
17dmso4411.1PPBP, HBB, SELL, SELP, G6PD
18atp44 2812.1HBB, KCNN4, HP, G6PD, ALAS2, RHD
19aspirin44 49 28 2414.1SELP, SELL, HP, PPBP, G6PD
20h2o24411.1HP, HBG2, G6PD, RHD, SELL, HBB
21polysulfone4411.1SELP, SELL, EPO, PPBP
22aprotinin44 1112.1EPO, SELP, SELL, PPBP
23azathioprine44 49 2 1114.0G6PD, EPO, HBG1, HBB
24phenylhydrazine4411.0RHD, EPO, HBG2
25hemophan4411.0EPO, PPBP, SELL
26zinc protoporphyrin4411.0EPO, G6PD, HP
27atorvastatin44 49 28 11 2415.0UGT1A1, SELP, SELL, PGF
28protoporphyrin ix44 11 2413.0EPO, HP, ALAS2
29ristocetin4411.0PPBP, EPO, SELP
30sialic acid4411.0EPO, SELP, SELL, HP
31cuprophan4411.0EPO, SELL, SELP
325-aminolevulinic acid44 2412.0ALAS2, HBG1, HBB
33tocopherol4411.0G6PD, HBG2, HP
34citrate4411.0G6PD, SELP, HP, PPBP
35arachidonic acid44 28 11 2414.0PPBP, UGT1A1, PLA2G10, HP, SELP
368-aminoquinoline4410.9HBG2, G6PD
37desmopressin44 59 28 1113.9EPO, PPBP, SELP
38dexamethasone44 49 28 1113.9UGT1A1, SELL, PPBP, HBG1
39deferoxamine44 1111.9HP, HBG2, EPO
40phenazine methosulfate4410.9HBG2, G6PD
41fmlp4410.9SELP, SELL, PLA2G10, PPBP
42prostacyclin4410.8HBG2, PGF, SELP, PPBP
43no-dimethylhydroxylamine4410.8HBG2, G6PD
44txb24410.8SELP, PPBP, PLA2G10
45mycophenolate mofetil44 49 1112.7UGT1A1, EPO, SELP
46dipyridamole44 59 28 1113.7SELP, SELL, PPBP
47de-oxy4410.6HBG2, HBB
48pge24410.5PLA2G10
49protamine4410.5SELL, HBB, SELP
50vegf4410.5SELL, PGF, HP, EPO, PPBP, SELP

GO Terms for genes affiliated with Sickle Cell Disease

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16Gene Ontology
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Cellular components related to Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00583310.7HBG2, HBB, HBG1, HBD
2endocytic vesicle lumenGO:07168210.6HP, HBB
3haptoglobin-hemoglobin complexGO:03183810.5HP, HBB
4integral to plasma membraneGO:00588710.5UGT1A1, RHD, SLC12A4, SELL, SELP, BCAM

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.9SELP, SELL, HBG2, HBB, HBG1, HBD
2response to lipopolysaccharideGO:03249610.6SELP, EPO, UGT1A1
3hemoglobin biosynthetic processGO:04254110.6EPO, ALAS2
4cell volume homeostasisGO:00688410.5SLC12A4, KCNN4
5erythrocyte maturationGO:04324910.3EPO, G6PD

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00534410.8HBG2, HBB, HBG1, HBD
2oxygen bindingGO:01982510.7HBD, HBG1, HBB, HBG2
3heme bindingGO:02003710.7HBD, HBG1, HBB, HBG2
4iron ion bindingGO:00550610.6HBD, HBG1, HBB, HBG2
5glycosphingolipid bindingGO:04320810.6SELP, SELL
6hemoglobin bindingGO:03049210.3HP, HBB

Products for genes affiliated with Sickle Cell Disease

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet