MCID: ELL005
MIFTS: 11

Elliptocytosis 2 malady

Summaries for Elliptocytosis 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Elliptocytosis 2, also known as elliptocytosis-2, is related to thalassemia and malaria. An important gene associated with Elliptocytosis 2 is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)). Related mouse phenotype renal/urinary system.

Description from OMIM:47 130600

Aliases & Classifications for Elliptocytosis 2

Sources:
20GeneTests, 22GTR, 61UMLS, 47OMIM
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Aliases & Descriptions:

elliptocytosis 2 20 22 61
elliptocytosis-2 47


Related Diseases for Elliptocytosis 2

Sources:
17GeneCards, 18GeneDecks
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Diseases in the elliptocytosis-1 family:

elliptocytosis 3 elliptocytosis 2

Diseases related to Elliptocytosis 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thalassemia10.0SLC4A1
2malaria10.0SLC4A1
3hereditary spherocytosis10.0SPTA1, SLC4A1
4hereditary elliptocytosis10.0SLC4A1, SPTA1
5deficiency anemia10.0SPTA1, SLC4A1

Graphical network of diseases related to Elliptocytosis 2:



Diseases related to elliptocytosis 2

Clinical Features for Elliptocytosis 2

Sources:
47OMIM
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Clinical features from OMIM:

130600

Clinical synopsis from OMIM:

130600

Drugs & Therapeutics for Elliptocytosis 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Elliptocytosis 2

Drug clinical trials:

Search ClinicalTrials for Elliptocytosis 2

Search NIH Clinical Center for Elliptocytosis 2

Search CenterWatch for Elliptocytosis 2

Genetic Tests for Elliptocytosis 2

Sources:
20GeneTests, 22GTR
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Genetic tests related to Elliptocytosis 2:

id Genetic test Affiliating Genes
1 Elliptocytosis 220 22 SPTA1

Anatomical Context for Elliptocytosis 2

Animal Models for Elliptocytosis 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Elliptocytosis 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1SPTA1, SLC4A1

Publications for Elliptocytosis 2

Genetic Variations for Elliptocytosis 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Elliptocytosis 2:

63 (show all 19)
id Symbol AA change Variation SNP ID
1SPTA1p.Ile24SerVAR_001324
2SPTA1p.Arg28HisVAR_001325rs28934004
3SPTA1p.Arg28LeuVAR_001326
4SPTA1p.Arg28SerVAR_001327rs28934005
5SPTA1p.Arg28CysVAR_001328
6SPTA1p.Val31AlaVAR_001329
7SPTA1p.Arg34TrpVAR_001330
8SPTA1p.Arg41TrpVAR_001331
9SPTA1p.Arg45SerVAR_001332
10SPTA1p.Arg45ThrVAR_001333
11SPTA1p.Gly46ValVAR_001334
12SPTA1p.Leu49PheVAR_001336
13SPTA1p.Gly151AspVAR_001337
14SPTA1p.Leu207ProVAR_001339rs121918643
15SPTA1p.Leu260ProVAR_001340
16SPTA1p.Ser261ProVAR_001341
17SPTA1p.His469ProVAR_001342
18SPTA1p.Gln471ProVAR_001344
19SPTA1p.Asp791GluVAR_001346rs7418956

Expression for genes affiliated with Elliptocytosis 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Elliptocytosis 2

Search GEO for disease gene expression data for Elliptocytosis 2.

Pathways for genes affiliated with Elliptocytosis 2

Compounds for genes affiliated with Elliptocytosis 2

GO Terms for genes affiliated with Elliptocytosis 2

Products for genes affiliated with Elliptocytosis 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Elliptocytosis 2

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