MCID: HRD012
MIFTS: 41

Hereditary Elliptocytosis malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Hereditary Elliptocytosis

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Aliases & Descriptions for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 11 48 27 13
Elliptocytosis, Hereditary 39 68
Congenital Elliptocytosis 11
 
Elliptocytosis Hereditary 50
Ovalocytosis 11

Classifications:



External Ids:

Disease Ontology11 DOID:2373
ICD1030 D58.1
ICD9CM32 282.1
MeSH39 D004612

Summaries for Hereditary Elliptocytosis

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NIH Rare Diseases:48 Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage. Last updated: 5/20/2011

MalaCards based summary: Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis and hepatitis. An important gene associated with Hereditary Elliptocytosis is EPB41 (Erythrocyte Membrane Protein Band 4.1), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include spleen, and related mouse phenotypes are liver/biliary system and immune system.

Disease Ontology:11 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.

Wikipedia:71 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

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Graphical network of the top 20 diseases related to Hereditary Elliptocytosis:



Diseases related to hereditary elliptocytosis

Symptoms & Phenotypes for Hereditary Elliptocytosis

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MGI Mouse Phenotypes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ADD2, ANK1, EPB41, SPTA1, SPTB
2MP:00053878.7ADD2, ANK1, EPB41, SLC4A1, SPTA1, SPTB
3MP:00053858.5ADD2, ADD3, ANK1, SLC4A1, SPTA1, SPTB
4MP:00053678.0ADD2, ANK1, EPB41, SLC4A1, SPTA1, SPTB
5MP:00053768.0ADD1, ADD2, ANK1, EPB41, SLC4A1, SPTA1
6MP:00053977.4ADD1, ADD2, ADD3, ANK1, EPB41, SLC4A1

Drugs & Therapeutics for Hereditary Elliptocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Hereditary Elliptocytosis


Cochrane evidence based reviews: elliptocytosis, hereditary

Genetic Tests for Hereditary Elliptocytosis

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Genetic tests related to Hereditary Elliptocytosis:

id Genetic test Affiliating Genes
1 Hereditary Elliptocytosis27

Anatomical Context for Hereditary Elliptocytosis

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MalaCards organs/tissues related to Hereditary Elliptocytosis:

36
Spleen

Publications for Hereditary Elliptocytosis

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Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. (28060122)
2017
2
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. (27667160)
2016
3
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
4
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. (26557672)
2015
5
Variations in Both I+-Spectrin (SPTA1) and I^-Spectrin ( SPTB ) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis. (24193021)
2014
6
Erythrocyte deformability and hereditary elliptocytosis: A case report. (25261429)
2014
7
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. (25332561)
2014
8
Hereditary elliptocytosis. (23729040)
2013
9
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. (24003435)
2013
10
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. (23974198)
2013
11
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. (22807418)
2012
12
Transient aplastic crisis in hereditary elliptocytosis. (22294270)
2012
13
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. (21858981)
2011
14
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
15
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis. (20863723)
2010
16
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. (20339087)
2010
17
Malaria and hereditary elliptocytosis. (17696197)
2008
18
A case of hereditary elliptocytosis. (17984044)
2007
19
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. (15757247)
2004
20
Hereditary elliptocytosis: spectrin and protein 4.1R. (15071791)
2004
21
Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. (12947004)
2004
22
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. (16985305)
2003
23
Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family. (11918554)
2002
24
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. (17264559)
2001
25
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. (11154235)
2001
26
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. (10845937)
2000
27
Presumed hereditary elliptocytosis in a dog. (10590790)
1999
28
Hereditary elliptocytosis complicating pregnancy. (15512307)
1999
29
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (9746802)
1998
30
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. (9576854)
1998
31
Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. (9691144)
1998
32
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. (9882098)
1998
33
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (9322591)
1997
34
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. (9407765)
1997
35
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. (9163587)
1997
36
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. (9207403)
1997
37
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144)
1996
38
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. (8956043)
1996
39
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
40
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
41
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349)
1996
42
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207)
1996
43
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. (8857939)
1996
44
Hemolytic anemia precipitated by pregnancy in a patient with hereditary elliptocytosis. (8756106)
1996
45
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). (7868135)
1995
46
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(-) hereditary elliptocytosis. (7627190)
1995
47
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. (7803301)
1994
48
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. (8018926)
1994
49
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton. (8119389)
1994
50
Molecular heterogeneity of hereditary elliptocytosis in Italy. (7843625)
1994

Variations for Hereditary Elliptocytosis

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Clinvar genetic disease variations for Hereditary Elliptocytosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPB41NM_203342.2(EPB41): c.444_450delGAATCAG (p.Asn149Profs)deletionPathogenicrs869025285GRCh37Chr 1, 29344901: 29344907

Expression for genes affiliated with Hereditary Elliptocytosis

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Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for genes affiliated with Hereditary Elliptocytosis

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Pathways related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2ANK1, SPTA1, SPTB
29.2ANK1, SPTA1, SPTB
38.5ADD1, ADD2, ADD3

GO Terms for genes affiliated with Hereditary Elliptocytosis

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Cellular components related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of the cytoplasmic side of the plasma membraneGO:003123510.6SPTA1, SPTB
2F-actin capping protein complexGO:000829010.0ADD1, ADD2
3cortical cytoskeletonGO:00308639.8EPB41, GYPC, SLC4A1, SPTA1
4spectrinGO:00080919.7EPB41, SPTA1, SPTB
5cytoskeletonGO:00058569.3ADD1, ADD3, ANK1
6spectrin-associated cytoskeletonGO:00147318.9ANK1, EPB41, SPTA1, SPTB
7membraneGO:00160207.7ADD1, ADD2, ADD3, EPB41, GYPC, SLC4A1
8plasma membraneGO:00058867.1ADD1, ADD2, ADD3, ANK1, EPB41, GYPC

Biological processes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:005169310.5SPTA1, SPTB
2hemopoiesisGO:003009710.2ADD2, SPTA1
3ER to Golgi vesicle-mediated transportGO:00068889.9ANK1, SPTA1, SPTB
4actin filament bundle assemblyGO:00510179.8ADD1, ADD2
5barbed-end actin filament cappingGO:00510169.8ADD1, ADD2
6cytoskeleton organizationGO:00070109.7ADD3, ANK1, SPTB
7actin cytoskeleton organizationGO:00300369.1ADD1, ADD2, EPB41, SPTA1
8positive regulation of protein bindingGO:00320929.1ADD1, ADD2, EPB41, SPTA1
9transmembrane transportGO:00550858.5ADD1, ADD2, ADD3

Molecular functions related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:003050610.4SLC4A1, SPTB
2actin filament bindingGO:00510159.1ADD1, ADD2, SPTA1, SPTB
3spectrin bindingGO:00305078.9ADD1, ADD2, ANK1, EPB41
4structural constituent of cytoskeletonGO:00052008.9ADD3, ANK1, EPB41, SPTA1, SPTB
5calmodulin bindingGO:00055168.8ADD1, ADD2, ADD3, EPB41
6actin bindingGO:00037798.1ADD1, ADD2, ADD3, EPB41, SLC4A1, SPTB
7structural molecule activityGO:00051988.0ADD1, ADD2, ADD3, ANK1

Sources for Hereditary Elliptocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet