MCID: ELL007
MIFTS: 22

Elliptocytosis-1 malady

Blood category

Summaries for Elliptocytosis-1

Sources:
47OMIM, 33MalaCards
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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:47 166910, 166900, 611804, 130600, 235370 179650, 225450 more

Aliases & Classifications for Elliptocytosis-1

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

elliptocytosis-1 47
common hereditary elliptocytosis 49 47


External Ids:

ICD10 via Orphanet26 D58.1

Related Diseases for Elliptocytosis-1

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

elliptocytosis 3 elliptocytosis 2

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

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

Graphical network of diseases related to Elliptocytosis-1:



Diseases related to elliptocytosis-1

Clinical Features for Elliptocytosis-1

Sources:
47OMIM
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Clinical features from OMIM:

166910,166900,611804,130600,235370,179650,225450

Clinical synopsis from OMIM:

166900

Drugs & Therapeutics for Elliptocytosis-1

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

Search CenterWatch for Elliptocytosis-1

Drug clinical trials:

Search ClinicalTrials for Elliptocytosis-1

Search NIH Clinical Center for Elliptocytosis-1

Search CenterWatch for Elliptocytosis-1

Genetic Tests for Elliptocytosis-1

Anatomical Context for Elliptocytosis-1

Animal Models for Elliptocytosis-1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Elliptocytosis-1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SPTA1, SPTB, EPB41

Publications for Elliptocytosis-1

Genetic Variations for Elliptocytosis-1

Expression for genes affiliated with Elliptocytosis-1

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

Sources:
54Reactome, 52QIAGEN
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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

GO Terms for genes affiliated with Elliptocytosis-1

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Elliptocytosis-1

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