MCID: SCK049
MIFTS: 13

Sickle Cell Disease and Related Diseases

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Sickle Cell Disease and Related Diseases

MalaCards integrated aliases for Sickle Cell Disease and Related Diseases:

Name: Sickle Cell Disease and Related Diseases 58 6

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D57.0 D57.1 D57.2 more
Orphanet 58 ORPHA275752

Summaries for Sickle Cell Disease and Related Diseases

MalaCards based summary : Sickle Cell Disease and Related Diseases is related to hemoglobin d disease and hemoglobin e-beta-thalassemia syndrome. An important gene associated with Sickle Cell Disease and Related Diseases is HBB (Hemoglobin Subunit Beta).

Related Diseases for Sickle Cell Disease and Related Diseases

Diseases in the Sickle Cell Disease family:

Sickle Cell Disease and Related Diseases

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

(showing 27, show less)
# Related Disease Score Top Affiliating Genes
1 hemoglobin d disease 9.8 LOC107133510 HBB
2 hemoglobin e-beta-thalassemia syndrome 9.5 LOC107133510 LOC106099062 HBB
3 beta-thalassemia 9.5 LOC107133510 LOC106099062 HBB
4 thalassemia 9.5 LOC107133510 LOC106099062 HBB
5 sickle cell disease 9.5 LOC107133510 LOC106099062 HBB
6 hemoglobin zurich 9.5 LOC107133510 LOC106099062 HBB
7 beta-thalassemia intermedia 9.5 LOC107133510 LOC106099062 HBB
8 methemoglobinemia, beta type 9.5 LOC107133510 LOC106099062 HBB
9 methemoglobinemia 9.5 LOC107133510 LOC106099062 HBB
10 methemoglobinemia, beta-globin type 9.5 LOC107133510 LOC106099062 HBB
11 thalassemia minor 9.5 LOC107133510 LOC106099062 HBB
12 beta-thalassemia, dominant inclusion body type 9.5 LOC107133510 LOC106099062 HBB
13 splenic infarction 9.5 LOC107133510 LOC106099062 HBB
14 hemoglobin c disease 9.5 LOC107133510 LOC106099062 HBB
15 beta-thalassemia major 9.5 LOC107133510 LOC106099062 HBB
16 hemoglobin e disease 9.4 LOC107133510 LOC106099062 HBB
17 fetal hemoglobin quantitative trait locus 1 9.4 LOC107133510 LOC106099062 HBB
18 heinz body anemias 9.4 LOC107133510 LOC106099062 HBB
19 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 9.4 LOC107133510 LOC106099062 HBB
20 hemoglobinopathy 9.4 LOC107133510 LOC106099062 HBB
21 erythrocytosis, familial, 6 9.4 LOC107133510 LOC106099062 HBB
22 sickle cell anemia 9.4 LOC107133510 LOC106099062 HBB
23 alpha-thalassemia 9.4 LOC107133510 LOC106099062 HBB
24 hemoglobin se disease 9.4 LOC107133510 LOC106099062 HBB
25 hemolytic anemia 9.3 LOC107133510 LOC106099062 HBB
26 deficiency anemia 9.2 LOC107133510 LOC106099062 HBB
27 malaria 9.1 LOC107133510 LOC106099062 HBB

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



Diseases related to Sickle Cell Disease and Related Diseases

Symptoms & Phenotypes for Sickle Cell Disease and Related Diseases

Drugs & Therapeutics for Sickle Cell Disease and Related Diseases

Search Clinical Trials , NIH Clinical Center for Sickle Cell Disease and Related Diseases

Genetic Tests for Sickle Cell Disease and Related Diseases

Anatomical Context for Sickle Cell Disease and Related Diseases

Publications for Sickle Cell Disease and Related Diseases

Articles related to Sickle Cell Disease and Related Diseases:

(showing 2, show less)
# Title Authors PMID Year
1
Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia. 6
24493127 2014
2
Polymerization and solubility of recombinant hemoglobins alpha 2 beta 2 (6Val) (Hb S) and alpha 2 beta 2(6Leu) (Hb Leu). 6
1802884 1991

Variations for Sickle Cell Disease and Related Diseases

ClinVar genetic disease variations for Sickle Cell Disease and Related Diseases:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002

Expression for Sickle Cell Disease and Related Diseases

Search GEO for disease gene expression data for Sickle Cell Disease and Related Diseases.

Pathways for Sickle Cell Disease and Related Diseases

GO Terms for Sickle Cell Disease and Related Diseases

Sources for Sickle Cell Disease and Related Diseases

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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