MCID: ELL007
MIFTS: 21

Elliptocytosis-1 malady

Summaries for Elliptocytosis-1

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46OMIM, 32MalaCards
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MalaCards: Elliptocytosis-1, also known as common hereditary elliptocytosis, is related to hereditary elliptocytosis and pyropoikilocytosis. An important gene associated with Elliptocytosis-1 is EPB41 (erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)), and among its related pathways are Interaction between L1 and Ankyrins and NCAM signaling for neurite out-growth. Related mouse phenotype liver/biliary system.

Description from OMIM:46 611804,130600

Aliases & Classifications for Elliptocytosis-1

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

elliptocytosis-1 46
common hereditary elliptocytosis 48


External Ids:

ICD10 via Orphanet26 D58.1

Related Diseases for Elliptocytosis-1

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17GeneCards, 18GeneDecks
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Diseases in the Elliptocytosis 2 family:

Elliptocytosis 3 elliptocytosis-1

Diseases related to Elliptocytosis-1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.4EPB41, SPTB, SPTA1
2pyropoikilocytosis10.0SPTA1
3alpha thalassemia10.0SPTB
4malaria10.0EPB41
5hereditary spherocytosis10.0SPTB, SPTA1

Graphical network of diseases related to Elliptocytosis-1:



Diseases related to elliptocytosis-1

Clinical Features for Elliptocytosis-1

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46OMIM
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Clinical features from OMIM:

611804,130600

Drugs & Therapeutics for Elliptocytosis-1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Elliptocytosis-1

Search CenterWatch for Elliptocytosis-1

Genetic Tests for Elliptocytosis-1

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Anatomical Context for Elliptocytosis-1

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Animal Models for Elliptocytosis-1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Elliptocytosis-1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SPTA1, SPTB, EPB41

Publications for Elliptocytosis-1

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Genetic Variations for Elliptocytosis-1

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Expression for genes affiliated with Elliptocytosis-1

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

Search GEO for disease gene expression data for Elliptocytosis-1.

Pathways for genes affiliated with Elliptocytosis-1

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53Reactome, 51QIAGEN
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Pathways related to Elliptocytosis-1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SPTA1, SPTB
29.5SPTA1, SPTB
3
Hide members
9.1SPTA1, SPTB, EPB41

Compounds for genes affiliated with Elliptocytosis-1

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GO Terms for genes affiliated with Elliptocytosis-1

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16Gene Ontology
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Cellular components related to Elliptocytosis-1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.5SPTB, EPB41
2intrinsic to internal side of plasma membraneGO:0312359.5SPTA1, SPTB
3spectrin-associated cytoskeletonGO:0147319.2SPTA1, SPTB, EPB41
4actin cytoskeletonGO:0156299.2SPTA1, SPTB
5spectrinGO:0080919.2EPB41, SPTB, SPTA1
6cytoskeletonGO:0058568.4EPB41L4B, EPB41L5, EPB41L4A
7extrinsic to membraneGO:0198988.2EPB41L4A, EPB41, EPB41L5, EPB41L4B

Biological processes related to Elliptocytosis-1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound biosynthetic processGO:0067799.6SPTA1, SPTB
2plasma membrane organizationGO:0070099.5SPTB, SPTA1
3hemopoiesisGO:0300979.5SPTA1, SPTB
4actin filament cappingGO:0516939.2SPTA1, SPTB
5positive regulation of protein bindingGO:0320929.1SPTA1, EPB41, EPB41L5
6actomyosin structure organizationGO:0310328.9EPB41L5, EPB41L4B

Molecular functions related to Elliptocytosis-1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:0510159.5SPTA1, SPTB
2cytoskeletal protein bindingGO:0080928.2EPB41L4A, EPB41L5, EPB41L4B
3structural constituent of cytoskeletonGO:0052008.2SPTA1, SPTB, EPB41, EPB41L4B

Products for genes affiliated with Elliptocytosis-1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Elliptocytosis-1

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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