SCD
MCID: SCK005
MIFTS: 62

Sickle Cell Disease (SCD) malady

Immune diseases, Blood diseases categories

Summaries for Sickle Cell Disease

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
21Genetics Home Reference, 60UMLS, 19GeneReviews, 20GeneTests, 44Novoseek, 25ICD10
See all sources

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


External Ids:

ICD1025 D57

Related Diseases for Sickle Cell Disease

About this section
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 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

About this section

Drugs & Therapeutics for Sickle Cell Disease

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

Genetic Tests for Sickle Cell Disease

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Sickle Cell Disease:

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

Animal Models for Sickle Cell Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Sickle Cell Disease:

(show top 50)    (show all 1132)
idTitleAuthorsYear
1
Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany. (24398797)
2014
2
PedsQLa8c Multidimensional Fatigue Scale in sickle cell disease: feasibility, reliability, and validity. (24038960)
2014
3
Pattern of chronic lung lesions in adults with sickle cell disease in Lagos, Nigeria. (24294468)
2013
4
Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India. (24088668)
2013
5
Neurodevelopmental deficits among infants and toddlers with sickle cell disease. (23838585)
2013
6
Inhibitors of second messenger pathways and Ca(2+)-induced exposure of phosphatidylserine in red blood cells of patients with sickle cell disease. (24158429)
2013
7
Trends in blood transfusion among hospitalized children with sickle cell disease. (23775719)
2013
8
Consulting communities on feedback of genetic findings in international health research: sharing sickle cell disease and carrier information in coastal Kenya. (24125465)
2013
9
qMRI relaxometry of mandibular bone marrow: a monomodal distribution in sickle cell disease. (23086731)
2013
10
An unusual case of sarcoidosis in an adult patient with sickle cell disease: management with methotrexate and low dose of steroid. (23335434)
2013
11
Red blood cell alloimmunization in sickle cell disease-prevalence and trends: a single-center cross-sectional study from United Kingdom. (24320815)
2013
12
A case of recurrent psychosis during sickle cell disease crisis treated successfully with ziprasidone. (23302449)
2013
13
Unusual cutaneous lesions indicating fat embolism syndrome in homozygous sickle cell disease. (23733451)
2013
14
Sickle cell disease: taking a multidisciplinary approach. (24049937)
2013
15
Knowledge and attitude of secondary school students in Jos, Nigeria on sickle cell disease. (24255733)
2013
16
Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. (24309423)
2013
17
Comparison of Serial Serum Ferritin Measurements and Liver Iron Concentration Assessed by MRI in Adult Transfused Patients with Sickle Cell Disease. (24175986)
2013
18
Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management. (23899441)
2013
19
A double-blind, randomized, multicenter phase 2 study of prasugrel versus placebo in adult patients with sickle cell disease. (23414938)
2013
20
A dose-escalation phase IIa study of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease. (23828223)
2013
21
Trends in hospital admissions for sickle cell disease in England. (23386325)
2013
22
Hemodynamic predictors of mortality in adults with sickle cell disease. (23348978)
2013
23
Weight status of children with sickle cell disease. (23460681)
2013
24
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. (24058526)
2013
25
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. (22758217)
2012
26
Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro. (23049419)
2012
27
High reticulocyte count is an independent risk factor for cerebrovascular disease in children with sickle cell anemia. (20949593)
2011
28
Complete recovery following sudden sensorineural hearing loss in a patient with sickle cell disease. (21727771)
2011
29
Acute chest syndrome in sickle cell disease due to the new influenza A (H1N1) virus infection. (20169545)
2010
30
The impact of recurrent acute chest syndrome on the lung function of young adults with sickle cell disease. (20644948)
2010
31
The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease. (19357842)
2009
32
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. (19644138)
2009
33
Outcome of management of acute prolonged priapism in patients with homozygous sickle cell disease. (20425738)
2009
34
Comment on "Cholecystectomy in sickle cell disease patients: is there more acute chest syndrome after laparoscopy? A case controlled study". (18784001)
2008
35
Asymptomatic cholelithiasis in children with sickle cell disease: early or delayed cholecystectomy? (17197975)
2007
36
Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression. (17613866)
2007
37
Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain. (16987799)
2006
38
Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. (16690007)
2006
39
Effect of transfusion on cerebral oxygenation, flow velocity in a patient with sickle cell anemia and Moyamoya disease: a case report. (17607591)
2006
40
Upregulation and atypical expression of the CD1 molecules on monocytes in sickle cell disease. (15556687)
2004
41
Sickle cell-hemoglobin E disease in an Indian family. (12035368)
2001
42
Acute chest syndrome in sickle cell disease. Crucial considerations in adolescents and adults. (10649675)
2000
43
The methylenetetrahydrofolate reductase gene C677T polymorphism in patients with homozygous sickle cell disease and stroke. (10583261)
1999
44
The acute chest syndrome of sickle cell disease. (10518074)
1999
45
Sequential endoscopic/laparoscopic management of cholelithiasis and choledocholithiasis in children who have sickle cell disease. (9349762)
1997
46
Cholelithiasis in children with sickle cell disease. (24057785)
1996
47
Retroviral transfer of a human beta-globin/delta-globin hybrid gene linked to beta locus control region hypersensitive site 2 aimed at the gene therapy of sickle cell disease. (7708766)
1995
48
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. (1864818)
1991
49
Roentgenographic and clinical appraisal of sickle cell-hemoglobin C disease. (14491713)
1962
50
Erythrophagocytosis and Hemosiderosis in the Liver and Spleen in Sickle Cell Disease. (19970688)
1943

Genetic Variations for Sickle Cell Disease

About this section

Expression for genes affiliated with Sickle Cell Disease

About this section
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

About this section
Sources:
53Reactome, 37NCBI 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

About this section
Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
See all sources

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

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1oxygen44 2412.5G6PD, PPBP, RHD, EPO, HBD, HBG1
2aspartate4411.3G6PD, UGT1A1, RHD, EPO, HBB, HP
3lactate4411.3G6PD, PPBP, EPO, HBB, HBG2, HP
4creatinine4411.3G6PD, PPBP, EPO, HBG2, HP, PGF
5tyrosine4411.3PPBP, UGT1A1, RHD, EPO, HBB, HP
6hydroxyurea44 49 1113.3PPBP, UGT1A1, EPO, HBG1, HBB, HBG2
7iron44 2412.2RHD, EPO, HBG1, HBB, HBG2, HP
8phosphatidylserine44 28 1113.2G6PD, RHD, HBG2, PLA2G10, SELL, SELP
9nitric oxide44 11 2413.2PPBP, HBG1, HBB, HBG2, HP, PGF
10alanine4411.2PPBP, UGT1A1, HBB, HBG2, HP, SELL
11epinephrine44 11 2413.2G6PD, PPBP, HBG2, HP, SELL, SELP
1223-diphosphoglycerate4411.2HP, HBG2, HBB, EPO, G6PD
13benzidine4411.2UGT1A1, EPO, HBG1, HBB, HP
14malondialdehyde4411.1G6PD, PPBP, EPO, HBG2, HP
15glucose 6-phosphate44 2412.1G6PD, UGT1A1, HBB, HBG2, HP
16heme28 11 2413.1HBD, HBG1, HBB, HBG2, ALAS2
17dmso4411.1SELP, SELL, HBB, PPBP, G6PD
18atp44 2812.1KCNN4, G6PD, PPBP, RHD, HBB, HP
19aspirin44 49 28 2414.1G6PD, PPBP, HP, SELL, SELP
20h2o24411.1SELL, HP, HBG2, HBB, RHD, G6PD
21polysulfone4411.1PPBP, EPO, SELL, SELP
22aprotinin44 1112.1SELP, SELL, EPO, PPBP
23azathioprine44 49 2 1114.0G6PD, EPO, HBG1, HBB
24phenylhydrazine4411.0HBG2, EPO, RHD
25hemophan4411.0SELL, EPO, PPBP
26zinc protoporphyrin4411.0G6PD, EPO, HP
27atorvastatin44 49 28 11 2415.0SELP, SELL, PGF, UGT1A1
28protoporphyrin ix44 11 2413.0EPO, HP, ALAS2
29ristocetin4411.0SELP, EPO, PPBP
30sialic acid4411.0EPO, HP, SELL, SELP
31cuprophan4411.0EPO, SELL, SELP
325-aminolevulinic acid44 2412.0HBG1, HBB, ALAS2
33tocopherol4411.0HP, HBG2, G6PD
34citrate4411.0G6PD, PPBP, HP, SELP
35arachidonic acid44 28 11 2414.0PPBP, UGT1A1, HP, PLA2G10, SELP
368-aminoquinoline4410.9HBG2, G6PD
37desmopressin44 59 28 1113.9SELP, EPO, PPBP
38dexamethasone44 49 28 1113.9SELL, HBG1, UGT1A1, PPBP
39deferoxamine44 1111.9EPO, HBG2, HP
40phenazine methosulfate4410.9HBG2, G6PD
41fmlp4410.9PPBP, PLA2G10, SELL, SELP
42prostacyclin4410.8PPBP, HBG2, PGF, SELP
43no-dimethylhydroxylamine4410.8HBG2, G6PD
44mycophenolate mofetil44 49 1112.8UGT1A1, EPO, SELP
45txb24410.7PPBP, PLA2G10, SELP
46dipyridamole44 59 28 1113.7PPBP, SELL, SELP
47de-oxy4410.6HBG2, HBB
48pge24410.5PLA2G10
49protamine4410.5HBB, SELL, SELP
50vegf4410.5SELP, SELL, PGF, HP, EPO, PPBP

GO Terms for genes affiliated with Sickle Cell Disease

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sickle Cell Disease

About this section
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