SCD
MCID: SCK005
MIFTS: 58

Sickle Cell Disease (SCD) malady

Immune, Blood, Endocrine categories

Summaries for Sickle Cell Disease

Sources:
21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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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 shwachman syndrome, is related to acute chest syndrome and thalassemia. 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 marrow, whole blood and spleen, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

Wikipedia:64 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

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 45Novoseek, 61UMLS, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

sickle cell disease 19 20 21 45
shwachman syndrome 19 61
pancreatic insufficiencybone marrow dysfunction 19
sickling disorder due to hemoglobin s 21
shwachman-bodian-diamond syndrome 19
sickle cell disorders 21
hemoglobin s disease 21
anemia, sickle cell 61
hbs disease 21
scd 21


External Ids:

ICD1025 D57

Related Diseases for Sickle Cell Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 266)
idRelated DiseaseScoreTop Affiliating Genes
1acute chest syndrome31.7PLA2G10
2thalassemia31.2G6PD, UGT1A1, EPO, HBD, HBG1, HBB
3sickle cell anemia30.9HP, HBB, HBG1, G6PD
4vascular disease30.9G6PD, PPBP, HBG2, HP, SELP
5asthma30.8SELL, HBG2, PPBP
6beta thalassemia30.8HBB, EPO
7cholelithiasis30.7UGT1A1
8alpha thalassemia30.6G6PD, UGT1A1, HBG1, HBB
9arthritis30.5HBB, HP, PGF
10splenomegaly30.5HP, EPO
11thromboembolism30.4G6PD, SELP
12deficiency anemia30.3G6PD, PPBP, RHD, EPO, HBD, HBG1
13iron deficiency anemia30.3G6PD, EPO, HBG2
14paroxysmal nocturnal hemoglobinuria30.3G6PD, HP, SELL
15hemoglobinuria30.3HP, G6PD
16pyruvate kinase deficiency30.3G6PD
17adenocarcinoma30.2SELL, UGT1A1
18atherosclerosis30.1G6PD, PPBP, HP, PGF, PLA2G10, SELL
19coronary artery disease,30.1PPBP, UGT1A1, HP, PGF, PLA2G10, SELP
20thrombocytosis30.1PPBP, EPO, HP, SELP
21hereditary spherocytosis30.1RHD, UGT1A1, G6PD
22plasmodium falciparum malaria30.1HP, HBB, G6PD
23hemochromatosis30.1HP, HBB
24chronic myeloid leukemia30.1SELP, EPO, PPBP, G6PD
25cystic fibrosis30.1HBB, HP
26autoimmune hemolytic anemia30.1HP, G6PD
27bod syndrome10.9
28hemoglobin d disease10.8
29hemoglobin c disease10.8
30sickle cell - hemoglobin d disease10.8
31sickle cell - hemoglobin c disease10.8
32splenic disease10.8
33splenic sequestration10.8
34priapism10.7
35hemoglobin e disease10.6
36sickle cell - hemoglobin e disease10.6
37adult syndrome10.6
38n syndrome10.6
39sickle cell - beta-thalassemia disease10.5
40t cell deficiency10.5
41arc syndrome10.4
42b cell deficiency10.4
43hypoxia10.4
44bacteremia10.4
45central retinal artery occlusion10.4
46hypersplenism10.4
47vein disease10.4
48bone marrow necrosis10.4
49lip disease10.4
50shwachman-diamond syndrome10.3

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



Diseases related to sickle cell disease

Clinical Features for Sickle Cell Disease

Drugs & Therapeutics for Sickle Cell Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Sickle Cell Disease

Sources:
20GeneTests
See all sources

Genetic tests related to Sickle Cell Disease:

id Genetic test Affiliating Genes
1 Sickle Cell Disease20 HBB

Anatomical Context for Sickle Cell Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Sickle Cell Disease:

33
Bone marrow, Whole blood, Spleen, Brain, Retina, Spinal cord, Heart, Colon, Kidney, Liver, Lung, Salivary gland, Adrenal gland, Breast, Placenta, Tonsil, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Pituitary

Animal Models for Sickle Cell Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Sickle Cell Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Sickle Cell Disease:

(show top 50)    (show all 1133)
idTitleAuthorsYear
1
Prospective evaluation for respiratory pathogens in children with sickle cell disease and acute respiratory illness. (24123899)
2014
2
Maternal and Perinatal Outcome of Women With Sickle Cell Disease of a Tribal Population in Central India. (24417305)
2014
3
Haematopoietic stem cell transplantation for severe sickle cell disease in childhood: a single centre experience of 50 patients. (24433465)
2014
4
iACT - An interactive mHealth monitoring system to enhance psychotherapy for adolescents with sickle cell disease. (24110179)
2013
5
A pilot study: the effect of healing touch on anxiety, stress, pain, pain medication usage, and physiological measures in hospitalized sickle cell disease adults experiencing a vaso-occlusive pain episode. (23817144)
2013
6
Relevance of blood groups in transfusion of sickle cell disease patients. (23643398)
2013
7
Dental infections increase the likelihood of hospital admissions among adult patients with sickle cell disease. (24151791)
2013
8
Determining glomerular filtration rate in homozygous sickle cell disease: utility of serum creatinine based estimating equations. (23894560)
2013
9
Invasive Pneumococcal Disease among Children with and without Sickle Cell Disease in the United States, 1998-2009. (23811745)
2013
10
Surgical procedures and outcomes among children with sickle cell disease. (24108258)
2013
11
Multiple drilling compared with standard core decompression for avascular necrosis of the femoral head in sickle cell disease patients. (23494112)
2013
12
Toward a stroke-free childhood in sickle cell disease: the 2013 Sherman Lecture. (24008577)
2013
13
Lactate dehydrogenase and hemolysis in sickle cell disease. (23929841)
2013
14
Current sickle cell disease management practices in Nigeria. (24114193)
2013
15
Parental and other factors associated with hydroxyurea use for pediatric sickle cell disease. (23129068)
2013
16
Managing misaligned paternity findings in research including sickle cell disease screening in Kenya: 'consulting communities' to inform policy. (24034967)
2013
17
A Retrospective Study to Assess the Utility of Frequent Laboratory Monitoring of Pediatric Patients With Sickle Cell Disease on Hydroxyurea. (24072249)
2013
18
Cystatin C, Beta2 Microglobulin, N-Acetyl-beta-D-glucosaminidase, Retinol-Binding Protein, and Endothelin 1 Levels in the Evaluation of Sickle Cell Disease Nephropathy. (23987825)
2013
19
Prolongation of QTc intervals and risk of death among patients with sickle cell disease. (23621844)
2013
20
Intellectual function evaluation of first generation immigrant children with sickle cell disease: the role of language and sociodemographic factors. (23735165)
2013
21
Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease. (22786487)
2012
22
HLA-haploidentical bone marrow transplantation with posttransplant cyclophosphamide expands the donor pool for patients with sickle cell disease. (22955919)
2012
23
Potential risks of chronic sildenafil use for priapism in sickle cell disease. (21883942)
2011
24
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
25
microRNA miR-144 modulates oxidative stress tolerance and associates with anemia severity in sickle cell disease. (20709907)
2010
26
Partial splenectomy prevents splenic sequestration crises in sickle cell disease. (19944213)
2009
27
Labyrinthitis ossificans in a child with sickle cell disease: CT and MRI findings. (19415252)
2009
28
Acute chest syndrome during pregnancy as initial presentation of sickle cell disease: a case report. (18756432)
2008
29
Postpartum acute splenic sequestration in sickle cell disease. (18604687)
2008
30
Erythroid adhesion molecules in sickle cell disease: effect of hydroxyurea. (18515167)
2008
31
Avascular necrosis of the femoral head in sickle cell disease in Nigeria: a retrospective study. (17767206)
2007
32
Hypersusceptibility to invasive pneumococcal infection in experimental sickle cell disease involves platelet-activating factor receptor. (17230418)
2007
33
Primary hyperparathyroidism mimicking vaso-occlusive crises in sickle cell disease. (16882790)
2006
34
Hemolysis-associated priapism in sickle cell disease. (15985542)
2005
35
Safety of purified poloxamer 188 in sickle cell disease: phase I study of a non-ionic surfactant in the management of acute chest syndrome. (15182051)
2004
36
Induced sputum versus bronchoalveolar lavage during acute chest syndrome in sickle cell disease. (12969866)
2003
37
Acute chest syndrome, transfusion, and neurologic events in children with sickle cell disease. (12900356)
2003
38
Avascular necrosis of the femoral head in adult Kuwaiti sickle cell disease patients. (12975550)
2003
39
Eicosanoids in sickle cell disease: potential relevance of neutrophil leukotriene B4 to disease pathophysiology. (11919546)
2002
40
Cholelithiasis in sickle cell disease in India. (12521086)
1997
41
Determinants of haemoglobin level in steady-state homozygous sickle cell disease. (8562387)
1996
42
Disturbance of plasma and platelet thrombospondin levels in sickle cell disease. (8602630)
1996
43
Butyrate in the treatment of sickle cell disease and beta-thalassemia. (9371980)
1995
44
Acute splenic sequestration together with aplastic crisis caused by human parvovirus B19 in patients with sickle cell disease. (8463907)
1993
45
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. (1351002)
1992
46
Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis. (2004456)
1991
47
Blood pressure and other cardiovascular disease risk factors in black adults with sickle cell trait or glucose-6-phosphate dehydrogenase deficiency. (2369999)
1990
48
Measurement of glomerular filtration rate in homozygous sickle cell disease: a comparison of 51Cr-EDTA clearance, creatinine clearance, serum creatinine and beta 2 microglobulin. (2115049)
1990
49
Acute splenic sequestration in siblings with sickle cell disease. (2456724)
1988
50
The radiological features of avascular necrosis of the femoral head in homozygous sickle cell disease. (7214838)
1981

Genetic Variations for Sickle Cell Disease

Expression for genes affiliated with Sickle Cell Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1oxygen45 2412.5PPBP, RHD, EPO, HBG1, HBB, HBG2
2aspartate4511.3HP, ALAS2, RHD, G6PD, UGT1A1, EPO
3lactate4511.3EPO, G6PD, PPBP, HBB, HBG2, HP
4creatinine4511.3SELL, PGF, HP, HBG2, EPO, PPBP
5tyrosine4511.3HBB, EPO, HP, PGF, SELL, SELP
6hydroxyurea45 50 1113.3UGT1A1, SELL, EPO, PPBP, HBG1, HBB
7iron45 2412.2ALAS2, EPO, RHD, HBB, HBG2, HP
8phosphatidylserine45 29 1113.2G6PD, HBG2, RHD, SELP, SELL, PLA2G10
9nitric oxide45 11 2413.2HBG1, HP, PGF, HBG2, HBB, PPBP
10alanine4511.2ALAS2, SELL, HP, HBG2, HBB, PPBP
11epinephrine45 11 2413.2G6PD, HP, SELL, SELP, HBG2, PPBP
1223-diphosphoglycerate4511.2HBB, EPO, HBG2, HP, G6PD
13benzidine4511.2HP, UGT1A1, HBB, HBG1, EPO
14malondialdehyde4511.1G6PD, HBG2, EPO, PPBP, HP
15glucose 6-phosphate45 2412.1G6PD, HP, UGT1A1, HBB, HBG2
16heme29 11 2413.1HBD, HBG2, ALAS2, HBB, HBG1
17dmso4511.1PPBP, HBB, SELL, SELP, G6PD
18atp45 2912.1HBB, KCNN4, HP, G6PD, ALAS2, RHD
19aspirin45 50 29 2414.1SELP, SELL, HP, PPBP, G6PD
20h2o24511.1HP, HBG2, G6PD, RHD, SELL, HBB
21polysulfone4511.1SELP, SELL, EPO, PPBP
22aprotinin45 1112.1EPO, SELP, SELL, PPBP
23azathioprine45 50 2 1114.0G6PD, EPO, HBG1, HBB
24phenylhydrazine4511.0RHD, EPO, HBG2
25hemophan4511.0EPO, PPBP, SELL
26zinc protoporphyrin4511.0EPO, G6PD, HP
27atorvastatin45 50 29 11 2415.0UGT1A1, SELP, SELL, PGF
28protoporphyrin ix45 11 2413.0EPO, HP, ALAS2
29ristocetin4511.0PPBP, EPO, SELP
30sialic acid4511.0EPO, SELP, SELL, HP
31cuprophan4511.0EPO, SELL, SELP
325-aminolevulinic acid45 2412.0ALAS2, HBG1, HBB
33tocopherol4511.0G6PD, HBG2, HP
34citrate4511.0G6PD, SELP, HP, PPBP
35arachidonic acid45 29 11 2414.0PPBP, UGT1A1, PLA2G10, HP, SELP
368-aminoquinoline4510.9HBG2, G6PD
37desmopressin45 60 29 1113.9EPO, PPBP, SELP
38dexamethasone45 50 29 1113.9UGT1A1, SELL, PPBP, HBG1
39deferoxamine45 1111.9HP, HBG2, EPO
40phenazine methosulfate4510.9HBG2, G6PD
41fmlp4510.9SELP, SELL, PLA2G10, PPBP
42prostacyclin4510.8HBG2, PGF, SELP, PPBP
43no-dimethylhydroxylamine4510.8HBG2, G6PD
44txb24510.8SELP, PPBP, PLA2G10
45mycophenolate mofetil45 50 1112.7UGT1A1, EPO, SELP
46dipyridamole45 60 29 1113.7SELP, SELL, PPBP
47de-oxy4510.6HBG2, HBB
48pge24510.5PLA2G10
49protamine4510.5SELL, HBB, SELP
50vegf4510.5SELL, PGF, HP, EPO, PPBP, SELP

GO Terms for genes affiliated with Sickle Cell Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sickle Cell Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet