MCID: HMZ002
MIFTS: 20

Homozygous Hereditary Elliptocytosis malady

Blood category

Summaries for Homozygous Hereditary Elliptocytosis

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33MalaCards
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MalaCards: Homozygous Hereditary Elliptocytosis is related to hereditary elliptocytosis and pyropoikilocytosis. An important gene associated with Homozygous Hereditary Elliptocytosis is EPB41 (erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)), and among its related pathways are NCAM signaling for neurite out-growth and Interaction between L1 and Ankyrins. Related mouse phenotypes are liver/biliary system and immune system.

Aliases & Classifications for Homozygous Hereditary Elliptocytosis

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49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

homozygous hereditary elliptocytosis 49


External Ids:

ICD10 via Orphanet26 D58.1

Related Diseases for Homozygous Hereditary Elliptocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Homozygous Hereditary Elliptocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.9EPB41, SPTB, SPTA1
2pyropoikilocytosis30.3SPTA1
3protein s deficiency10.2
4pyropoikilocytosis hereditary10.2
5malaria10.0EPB41
6thalassemia10.0SPTB
7hereditary spherocytosis10.0SPTB, SPTA1
8deficiency anemia10.0SPTA1, SPTB, EPB41

Graphical network of diseases related to Homozygous Hereditary Elliptocytosis:



Diseases related to homozygous hereditary elliptocytosis

Clinical Features for Homozygous Hereditary Elliptocytosis

Drugs & Therapeutics for Homozygous Hereditary Elliptocytosis

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

Search CenterWatch for Homozygous Hereditary Elliptocytosis

Drug clinical trials:

Search ClinicalTrials for Homozygous Hereditary Elliptocytosis

Search NIH Clinical Center for Homozygous Hereditary Elliptocytosis

Search CenterWatch for Homozygous Hereditary Elliptocytosis

Genetic Tests for Homozygous Hereditary Elliptocytosis

Anatomical Context for Homozygous Hereditary Elliptocytosis

Animal Models for Homozygous Hereditary Elliptocytosis or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SPTA1, SPTB, EPB41
2MP:00053878.5SPTA1, SPTB, EPB41
3MP:00053678.4SPTA1, SPTB, EPB41
4MP:00053978.2EPB41, SPTB, SPTA1

Publications for Homozygous Hereditary Elliptocytosis

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51PubMed
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Articles related to Homozygous Hereditary Elliptocytosis:

idTitleAuthorsYear
1
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis. (21839655)
2011
2
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (9746802)
1998
3
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. (1430200)
1992
4
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
5
Red cell membrane sialoglycoprotein beta in homozygous and heterozygous 4.1(-) hereditary elliptocytosis. (2408666)
1985
6
Homozygous hereditary elliptocytosis with hemolytic anemia. (6719166)
1984
7
Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis. (6849840)
1983
8
Homozygous hereditary elliptocytosis: implications for the function of membrane protein band 4.1. (7156170)
1982
9
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)
1981
10
Homozygous hereditary elliptocytosis as the cause of haemolytic anemia in infancy. (5731934)
1968

Genetic Variations for Homozygous Hereditary Elliptocytosis

Expression for genes affiliated with Homozygous Hereditary Elliptocytosis

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

Search GEO for disease gene expression data for Homozygous Hereditary Elliptocytosis.

Pathways for genes affiliated with Homozygous Hereditary Elliptocytosis

Sources:
54Reactome, 52QIAGEN
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Pathways related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SPTA1, SPTB
29.1SPTA1, SPTB
3
Hide members
8.5SPTA1, SPTB, EPB41

Compounds for genes affiliated with Homozygous Hereditary Elliptocytosis

GO Terms for genes affiliated with Homozygous Hereditary Elliptocytosis

Sources:
16Gene Ontology
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Cellular components related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.0SPTB, EPB41
2intrinsic to internal side of plasma membraneGO:0312359.0SPTB, SPTA1
3actin cytoskeletonGO:0156298.8SPTA1, SPTB
4spectrin-associated cytoskeletonGO:0147318.6SPTA1, SPTB, EPB41
5spectrinGO:0080918.5SPTA1, SPTB, EPB41

Biological processes related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound biosynthetic processGO:0067799.2SPTA1, SPTB
2positive regulation of protein bindingGO:0320929.2EPB41, SPTA1
3plasma membrane organizationGO:0070099.2SPTA1, SPTB
4actin filament cappingGO:0516939.1SPTA1, SPTB
5axon guidanceGO:0074119.1SPTA1, SPTB
6hemopoiesisGO:0300978.8SPTA1, SPTB

Molecular functions related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.1SPTA1, SPTB
2actin filament bindingGO:0510159.0SPTA1, SPTB
3actin bindingGO:0037798.7SPTB, EPB41
4structural constituent of cytoskeletonGO:0052008.5SPTA1, SPTB, EPB41

Products for genes affiliated with Homozygous Hereditary Elliptocytosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Homozygous Hereditary Elliptocytosis

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