SCD
MCID: SCK005
MIFTS: 51

Sickle Cell Disease (SCD) malady

Categories: Immune diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Sickle Cell Disease

Aliases & Descriptions for Sickle Cell Disease:

Name: Sickle Cell Disease 23 24 25 52 3
Sickling Disorder Due to Hemoglobin S 25
Sickle Cell Disorders 25
Hemoglobin S Disease 25
Anemia, Sickle Cell 69
Hbs Disease 25
Scd 25

Classifications:



External Ids:

ICD10 33 D57

Summaries for Sickle Cell Disease

Genetics Home Reference : 25 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 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome and sickle cell disease associated with an other hemoglobin anomaly, and has symptoms including abdominal pain, angina pectoris and chest pain. An important gene associated with Sickle Cell Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. The drugs Iron and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and endothelial, and related phenotype is Increased shRNA abundance.

Wikipedia : 71 Sickle-cell disease (SCD) is a group of blood disorders typically inherited from a person\'s parents.... more...

GeneReviews: NBK1377

Related Diseases for Sickle Cell Disease

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

(show top 50) (show all 211)
id Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 12.0
2 sickle cell disease associated with an other hemoglobin anomaly 11.9
3 sickle cell anemia 11.7
4 acute chest syndrome 11.4
5 superior semicircular canal dehiscence syndrome 11.4
6 corneal dystrophy, schnyder type 11.4
7 hemoglobinopathy 11.3
8 sickle beta thalassemia 11.3
9 malaria 11.2
10 obesity 11.1
11 abdominal obesity-metabolic syndrome 1 11.1
12 reye syndrome 11.0
13 diabetes mellitus, noninsulin-dependent 11.0
14 spondylocheirodysplasia, ehlers-danlos syndrome-like 10.9
15 moyamoya disease 10.8
16 thalassemia 10.3
17 priapism 10.3
18 chronic laryngitis 10.3 BCAM HBB
19 splenic sequestration 10.3
20 oxyphilic adenoma 10.3 HBB HBS1L
21 michelin tire baby syndrome 10.2 HBA2 HBB
22 surfactant metabolism dysfunction, pulmonary, 3 10.2 HBA2 HBB
23 acute liver failure 10.2 EPO HBB HBG1
24 disseminated intravascular coagulation 10.2 EPO HBA2
25 cutaneous pseudolymphoma 10.2 G6PD HBG2
26 tmem216-related meckel syndrome 10.2 EPO HBA2 HBB
27 tendinopathy 10.2 G6PD HBG2
28 pulmonary hypertension 10.2
29 sepsis in premature infants 10.2 HBB HBG1 HBG2
30 cardiomyopathy, dilated, 1w 10.2 G6PD HBA2 HBB
31 endotheliitis 10.1
32 tmem231-related joubert syndrome 10.1 HBA2 HBB
33 renal artery disease 10.1 G6PD UGT1A1
34 avascular necrosis of the femoral head 10.1
35 setariasis 10.1 G6PD HBB HBG2
36 cat-scratch disease 10.1 EPO G6PD HBA2
37 cerebritis 10.1
38 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.1 HBB HBD
39 middle ear adenoma 10.1 HBB HBD
40 isolated atp synthase deficiency 10.1 BCL11A HBB HBG1 HBG2
41 cholelithiasis 10.1
42 asthma 10.1
43 retinitis 10.1
44 hepatic infarction 10.0 HBB HBD
45 vagus nerve neoplasm 10.0 G6PD HBB HBG1 UGT1A1
46 hepatitis b 10.0 EPO G6PD HBA2 HBB
47 extrahepatic bile duct papillary adenoma 10.0 HBB HBD
48 tmem237-related joubert syndrome 10.0 EPO HBA2 HBB UGT1A1
49 endometrial adenocarcinoma 10.0 HBB HBD
50 neuronal ceroid-lipofuscinoses 10.0 EPO G6PD HBB HBG2

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



Diseases related to Sickle Cell Disease

Symptoms & Phenotypes for Sickle Cell Disease

UMLS symptoms related to Sickle Cell Disease:


abdominal pain, angina pectoris, chest pain, edema

GenomeRNAi Phenotypes related to Sickle Cell Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBD HBG2

Drugs & Therapeutics for Sickle Cell Disease

Drugs for Sickle Cell Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 391)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
3
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
4
Ribavirin Approved Phase 4 36791-04-5 37542
5
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
6
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
7
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
8
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
9
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
10
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
11
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
12
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
13
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
15
Guaifenesin Approved, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
16
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
17
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
18
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
19
Desogestrel Approved Phase 4 54024-22-5 40973
20
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
21
Heroin Approved, Illicit Phase 4 561-27-3 5462328
22
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
23 interferons Phase 4
24 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
25 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
28 Vaccines Phase 4,Phase 3,Phase 2
29 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Interferon-alpha Phase 4
32 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
33 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
34 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
35 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
37 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
39 Sildenafil Citrate Phase 4,Phase 2,Phase 1 171599-83-0
40 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 1,Phase 2
41 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 2,Phase 1
42 Narcotics Phase 4,Phase 3,Phase 1,Phase 2
43 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Contraceptive Agents Phase 4
45 Cyclooxygenase Inhibitors Phase 4,Phase 1,Phase 2
46 Heptavalent Pneumococcal Conjugate Vaccine Phase 4,Phase 3,Phase 2
47 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
48 Analgesics, Opioid Phase 4,Phase 3,Phase 1,Phase 2
49 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 588)
id Name Status NCT ID Phase
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
2 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4
3 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4
4 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4
5 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4
6 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
7 Low-dose Ketamine vs Morphine for Vaso-occlusive Crisis in Sicklers Completed NCT02434939 Phase 4
8 Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food Completed NCT00845871 Phase 4
9 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4
10 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4
11 Effectiveness of Ultrasound Guided Platelet Rich Plasma Injections in the Sacroiliac Joint Recruiting NCT03122119 Phase 4
12 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4
13 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4
14 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4
15 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4
16 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Not yet recruiting NCT03178643 Phase 4
17 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
18 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4
19 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4
20 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4
21 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
22 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4
23 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4
24 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease (TAPS) Unknown status NCT00512577 Phase 3
25 Long-Term Effects of Hydroxyurea in Children With Sickle Cell Anemia (The BABY HUG Follow-up Study) Unknown status NCT00890396 Phase 3
26 Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload Unknown status NCT01511848 Phase 2, Phase 3
27 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
28 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3
29 L-Arginine and Sickle Cell Disease Completed NCT01142219 Phase 3
30 Hypnosis to Manage Pain and Symptoms in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
31 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3
32 Steroid Treatment for Sickle Cell Pain Crisis Completed NCT00263562 Phase 3
33 A Phase III Safety and Efficacy Study of L-Glutamine to Treat Sickle Cell Disease or Sickle βo-thalassemia Completed NCT01179217 Phase 3
34 Evaluation of Repeat Administration of Purified Poloxamer 188 Completed NCT02449616 Phase 3
35 Study Evaluating 13-valent Pneumococcal Conjugate Vaccine (13vPnC) in Children With Sickle Cell Disease Completed NCT00918580 Phase 3
36 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3
37 Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prevention in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3
38 Ameliorating Attention Problems in Children With Sickle Cell Disease (SCD) Completed NCT01411280 Phase 3
39 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3
40 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3
41 Hydroxyurea to Prevent Organ Damage in Children With Sickle Cell Anemia Completed NCT00006400 Phase 3
42 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3
43 Effect of Inhaled Nitric Oxide in Acute Chest Syndrome (INOSTA Study) Completed NCT00748423 Phase 2, Phase 3
44 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
45 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
46 Mobilization and Handling of Stem Cells for Transplant From Healthy Volunteers With Sickle Cell Trait Completed NCT00005782 Phase 3
47 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
48 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3
49 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3
50 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3

Search NIH Clinical Center for Sickle Cell Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Sickle Cell Disease

Genetic tests related to Sickle Cell Disease:

id Genetic test Affiliating Genes
1 Sickle Cell Disease 24 HBB

Anatomical Context for Sickle Cell Disease

MalaCards organs/tissues related to Sickle Cell Disease:

39
Bone, Lung, Endothelial, Bone Marrow, Neutrophil, Kidney, Testes

Publications for Sickle Cell Disease

Articles related to Sickle Cell Disease:

(show top 50) (show all 1257)
id Title Authors Year
1
Risk Factors for 30-day Readmission in Adults with Sickle-Cell Disease. ( 28065771 )
2017
2
A Comment on Pattern of Opioid Use in Sickle Cell Disease. ( 28052380 )
2017
3
Current Results and Future Research Priorities in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Children with Sickle Cell Disease and Thalassemia: a Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 28065838 )
2017
4
Guidelines on red cell transfusion in sickle cell disease. Part I: principles and laboratory aspects. ( 28092109 )
2017
5
The role of rs1984112_G at CD36 gene in increasing reticulocyte level among sickle cell disease patients. ( 27869039 )
2017
6
Regulation of Active ICAM-4 on Normal and Sickle Cell Disease RBCs via AKAPs Is Revealed by AFM. ( 28076805 )
2017
7
Hydroxyurea treatment effect on children with sickle cell disease and obstructive sleep apnea. ( 28078488 )
2017
8
Acute Pain in Adolescents and Young Adults with Sickle Cell Disease: Delayed and Increased Opioid Dosing Following Transition to Adult Care. ( 28066934 )
2017
9
AAPT Diagnostic Criteria for Chronic Sickle Cell Disease Pain. ( 28065813 )
2017
10
Perceived Racial Bias and Health-Related Stigma Among Youth with Sickle Cell Disease. ( 28059954 )
2017
11
Acute vaso-occlusive crisis in patients with sickle cell disease. ( 28027139 )
2017
12
Enhanced Long-Term Brain MRI Evaluation of Children with Sickle Cell Disease Following Hematopoietic Cell Transplantation. ( 28089760 )
2017
13
GSTT1 (rs4025935) null genotype is associated with increased risk of sickle cell disease in the populations of Tabuk-Northwestern region of Saudi Arabia. ( 27885941 )
2017
14
Expression pattern of CD55 and CD59 on red blood cells in sickle cell disease. ( 27667587 )
2017
15
Hemoglobin-Based Blood Substitutes and the Treatment of Sickle Cell Disease: More Harm than Help? ( 28054978 )
2017
16
Hot Off the Press: Which Febrile Children With Sickle Cell Disease Need a Chest X-Ray? ( 28008687 )
2016
17
Blood transfusions for treating acute chest syndrome in people with sickle cell disease. ( 27574910 )
2016
18
Effect of Hereditary Hemochromatosis Gene (HFE) H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients. ( 27095682 )
2016
19
CT abdominal imaging findings in patients with sickle cell disease: acute vaso-occlusive crisis, complications, and chronic sequelae. ( 27600384 )
2016
20
Anaesthetic challenges in a child with sickle-cell disease and congenital heart block. ( 27141119 )
2016
21
Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease. ( 26476208 )
2016
22
Spleen histology in children with sickle cell disease and hereditary spherocytosis: Hints on the disease pathophysiology. ( 27771375 )
2016
23
Hydroxyurea and Pain History in Relation to Patient-Reported Outcomes Using PROMIS Measures and the Frequency of Assessments in Sickle Cell Disease Patients. ( 27187560 )
2016
24
Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors. ( 27177398 )
2016
25
Cranial epidural hematomas: A case series and literature review of this rare complication associated with sickle cell disease. ( 27618802 )
2016
26
Sickle cell disease severity: an introduction. ( 27190296 )
2016
27
Hemophagocytosis in a patient with sickle cell disease. ( 27195332 )
2016
28
Hematopoietic stem cell transplantation for people with sickle cell disease. ( 27194464 )
2016
29
Original Research: Acute chest syndrome in sickle cell disease: Effect of genotype and asthma. ( 26936083 )
2016
30
Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease. ( 27354937 )
2016
31
Alloimmunisation rates of sickle cell disease patients in the United States differ from those in other geographical regions. ( 27197689 )
2016
32
Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease. ( 27673392 )
2016
33
Score Predicting Acute Chest Syndrome During Vaso-occlusive Crises in Adult Sickle-cell Disease Patients. ( 27412264 )
2016
34
Impact of a Clinical Pharmacy Service on the Management of Patients in a Sickle Cell Disease Outpatient Center. ( 27639254 )
2016
35
The global burden of pulmonary hypertension in sickle cell disease: a systematic review and meta-analysis. ( 27181705 )
2016
36
Clinically-oriented proteomic investigation of sickle cell disease: Opportunities and challenges. ( 27193514 )
2016
37
Are We Missing the Mark? Fever, Respiratory Symptoms, Chest Radiographs and Acute Chest Syndrome in Sickle Cell Disease. ( 27153121 )
2016
38
Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/I^-thalassemia patients. ( 26895070 )
2016
39
Coping with Pain in the Face of Healthcare Injustice in Patients with Sickle Cell Disease. ( 27215766 )
2016
40
A case of delayed hemolytic transfusion reaction in sickle cell disease patient. ( 27605854 )
2016
41
High Percentage of Evanescent Red Cell Antibodies in Patients with Sickle Cell Disease Highlights Need for a National Antibody Database. ( 27598370 )
2016
42
Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease. ( 27198469 )
2016
43
Plasma levels of TGF-I^1 in homeostasis of the inflammation in sickle cell disease. ( 26928604 )
2016
44
Health Resources and Services Administration's Efforts to Improve Sickle Cell Disease Care. ( 27598371 )
2016
45
UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children. ( 27981643 )
2016
46
Renal Failure in Sickle Cell Disease: Prevalence, Predictors of Disease, Mortality and Effect on Length of Hospital Stay. ( 27643740 )
2016
47
Efficient CRISPR/Cas9-based gene correction in induced pluripotent stem cells established from fibroblasts of patients with sickle cell disease. ( 28066780 )
2016
48
Immunogenicity and Safety Of 10-Valent Pneumococcal Non-Typeable Haemophilus influenzae Protein D Conjugate Vaccine (PHiD-CV) Administered to Children with Sickle Cell Disease Between 8 Weeks and 2 Years of Age: A Phase III, Open, Controlled Study. ( 28030521 )
2016
49
Normal Non-HDL Cholesterol, Low Total Cholesterol, and HDL Cholesterol Levels in Sickle Cell Disease Patients in the Steady State: A Case-Control Study of Tema Metropolis. ( 28078142 )
2016
50
A BMT CTN phase II trial of unrelated donor marrow transplantation for children with severe sickle cell disease. ( 27625358 )
2016

Variations for Sickle Cell Disease

ClinVar genetic disease variations for Sickle Cell Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232

Expression for Sickle Cell Disease

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

Pathways for Sickle Cell Disease

Pathways related to Sickle Cell Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.02 G6PD HBB HBG1 UGT1A1
2 11.65 HBB HBD HBG1 HBG2
3 10.68 HBA2 HBB VCAM1
4 10.61 HBA2 HBB SELP VCAM1

GO Terms for Sickle Cell Disease

Cellular components related to Sickle Cell Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.46 HBA2 HBB HBD HBG2
2 endocytic vesicle lumen GO:0071682 9.26 HBA2 HBB
3 hemoglobin complex GO:0005833 9.02 HBA2 HBB HBD HBG1 HBG2
4 haptoglobin-hemoglobin complex GO:0031838 8.96 HBA2 HBB

Biological processes related to Sickle Cell Disease according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.7 EPO PGF VCAM1
2 response to ethanol GO:0045471 9.63 G6PD UGT1A1 VCAM1
3 leukocyte cell-cell adhesion GO:0007159 9.51 SELP VCAM1
4 hydrogen peroxide catabolic process GO:0042744 9.48 HBA2 HBB
5 response to lipopolysaccharide GO:0032496 9.46 EPO SELP UGT1A1 VCAM1
6 calcium-mediated signaling using intracellular calcium source GO:0035584 9.43 SELP VCAM1
7 response to nutrient GO:0007584 9.43 EPO UGT1A1 VCAM1
8 leukocyte tethering or rolling GO:0050901 9.4 SELP VCAM1
9 erythrocyte maturation GO:0043249 9.37 EPO G6PD
10 cell volume homeostasis GO:0006884 9.32 KCNN4 SLC12A4
11 blood coagulation GO:0007596 9.26 HBB HBD HBG1 HBG2
12 oxygen transport GO:0015671 9.02 HBA2 HBB HBD HBG1 HBG2
13 transport GO:0006810 10.04 HBA2 HBB HBD HBG1 HBG2 KCNN4

Molecular functions related to Sickle Cell Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.65 HBA2 HBB HBD HBG1 HBG2
2 heme binding GO:0020037 9.55 HBA2 HBB HBD HBG1 HBG2
3 peroxidase activity GO:0004601 9.37 HBA2 HBB
4 oxygen binding GO:0019825 9.35 HBA2 HBB HBD HBG1 HBG2
5 haptoglobin binding GO:0031720 9.32 HBA2 HBB
6 oxygen transporter activity GO:0005344 9.02 HBA2 HBB HBD HBG1 HBG2

Sources for Sickle Cell Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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