MCID: HMZ002
MIFTS: 20

Homozygous Hereditary Elliptocytosis malady

Rare diseases category
Download this MalaCard

Summaries for Homozygous Hereditary Elliptocytosis

About this section


Fully expand this MalaCard
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

About this section
Sources:
48Orphanet, 26ICD10 via Orphanet
See all sources

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 Orphanet26 D58.1

Related Diseases for Homozygous Hereditary Elliptocytosis

About this section

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

About this section

Drugs & Therapeutics for Homozygous Hereditary Elliptocytosis

About this section

Drug clinical trials:

Search ClinicalTrials for Homozygous Hereditary Elliptocytosis

Search NIH Clinical Center for Homozygous Hereditary Elliptocytosis

Genetic Tests for Homozygous Hereditary Elliptocytosis

About this section

Anatomical Context for Homozygous Hereditary Elliptocytosis

About this section

Animal Models for Homozygous Hereditary Elliptocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Homozygous Hereditary Elliptocytosis:

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

Publications for Homozygous Hereditary Elliptocytosis

About this section

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

About this section

Expression for genes affiliated with Homozygous Hereditary Elliptocytosis

About this section
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

About this section

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

About this section

GO Terms for genes affiliated with Homozygous Hereditary Elliptocytosis

About this section

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:0156298.7SPTA1, SPTB
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:0320929.0SPTA1, EPB41
5axon guidanceGO:0074119.0SPTA1, SPTB
6hemopoiesisGO:0300978.7SPTA1, SPTB

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Homozygous Hereditary Elliptocytosis

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet