MCID: HMZ002
MIFTS: 21

Homozygous Hereditary Elliptocytosis malady

Rare diseases category

Summaries for Homozygous Hereditary Elliptocytosis

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MalaCards based summary: Homozygous Hereditary Elliptocytosis is related to pyropoikilocytosis and hereditary elliptocytosis. An important gene associated with Homozygous Hereditary Elliptocytosis is SPTB (spectrin, beta, erythrocytic), and among its related pathways are L1CAM interactions and NCAM signaling for neurite out-growth. Related mouse phenotypes are liver/biliary system and renal/urinary system.

Aliases & Classifications for Homozygous Hereditary Elliptocytosis

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Sources:
48Orphanet, 27ICD10 via Orphanet
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Homozygous Hereditary Elliptocytosis, Aliases & Descriptions:

Name: Homozygous Hereditary Elliptocytosis 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

ICD10 via Orphanet27 D58.1

Related Diseases for Homozygous Hereditary Elliptocytosis

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

idRelated DiseaseScoreTop Affiliating Genes
1pyropoikilocytosis30.5SPTA1
2hereditary elliptocytosis30.4SPTB, SPTA1, EPB41
3hemolytic anemia10.3
4hereditary spherocytosis9.8SPTB, SPTA1
5deficiency anemia9.5EPB41, SPTB, SPTA1

Graphical network of diseases related to Homozygous Hereditary Elliptocytosis:



Diseases related to homozygous hereditary elliptocytosis

Symptoms for Homozygous Hereditary Elliptocytosis

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Drugs & Therapeutics for Homozygous Hereditary Elliptocytosis

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Drug clinical trials:

Search ClinicalTrials for Homozygous Hereditary Elliptocytosis

Search NIH Clinical Center for Homozygous Hereditary Elliptocytosis

Genetic Tests for Homozygous Hereditary Elliptocytosis

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Anatomical Context for Homozygous Hereditary Elliptocytosis

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Animal Models for Homozygous Hereditary Elliptocytosis or affiliated genes

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MGI Mouse Phenotypes related to Homozygous Hereditary Elliptocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6SPTB, SPTA1, EPB41
2MP:00053678.5SPTB, SPTA1, EPB41
3MP:00053768.5SPTB, SPTA1, EPB41
4MP:00053978.4EPB41, SPTA1, SPTB
5MP:00053878.2SPTB, SPTA1, EPB41

Publications for Homozygous Hereditary Elliptocytosis

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Articles related to Homozygous Hereditary Elliptocytosis:

idTitleAuthorsYear
1
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
2
Homozygous hereditary elliptocytosis with hemolytic anemia. (6719166)
1984
3
Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis. (6849840)
1983
4
Homozygous hereditary elliptocytosis: implications for the function of membrane protein band 4.1. (7156170)
1982
5
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)
1981
6
Homozygous hereditary elliptocytosis as the cause of haemolytic anemia in infancy. (5731934)
1968

Variations for Homozygous Hereditary Elliptocytosis

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Expression for genes affiliated with Homozygous Hereditary Elliptocytosis

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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

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Pathways related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SPTA1, SPTB
2
Show member pathways
9.0SPTA1, SPTB
39.0SPTA1, SPTB
4
Show member pathways
8.5EPB41, SPTA1, SPTB

Compounds for genes affiliated with Homozygous Hereditary Elliptocytosis

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GO Terms for genes affiliated with Homozygous Hereditary Elliptocytosis

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Cellular components related to Homozygous Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.3EPB41, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:0312358.9SPTB, SPTA1
3actin cytoskeletonGO:0156298.7SPTB, SPTA1
4spectrin-associated cytoskeletonGO:0147318.6EPB41, SPTA1, SPTB
5spectrinGO:0080918.5EPB41, SPTA1, SPTB

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

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound biosynthetic processGO:0067799.1SPTA1, SPTB
2plasma membrane organizationGO:0070099.1SPTA1, SPTB
3actin filament cappingGO:0516939.0SPTA1, SPTB
4positive regulation of protein bindingGO:0320929.0EPB41, SPTA1
5axon guidanceGO:0074119.0SPTB, SPTA1
6hemopoiesisGO:0300978.7SPTB, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.0SPTA1, SPTB
2actin bindingGO:0037799.0EPB41, SPTB
3actin filament bindingGO:0510158.9SPTA1, SPTB
4structural constituent of cytoskeletonGO:0052008.5EPB41, SPTA1, SPTB

Products for genes affiliated with Homozygous Hereditary Elliptocytosis

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  • Antibodies
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Sources for Homozygous Hereditary Elliptocytosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet