MCID: HRD012
MIFTS: 57

Hereditary Elliptocytosis malady

Immune diseases, Blood diseases categories

Summaries for Hereditary Elliptocytosis

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Hereditary Elliptocytosis, also known as ovalocytosis, is related to hereditary spherocytosis and hemolytic anemia. An important gene associated with Hereditary Elliptocytosis is SLC4A1 (solute carrier family 4 (anion exchanger), member 1), and among its related pathways are O2/CO2 exchange in erythrocytes and Bicarbonate transporters. The compounds amtb and naoh have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and eye, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Wikipedia:63 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Description from OMIM:46 130600,611804

Aliases & Classifications for Hereditary Elliptocytosis

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 10DISEASES, 48Orphanet, 46OMIM, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary elliptocytosis:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

hereditary elliptocytosis 8 42 22 10 48
ovalocytosis 8 46
elliptocytosis, hereditary 60
elliptocytosis hereditary 44
congenital elliptocytosis 8


External Ids:

Disease Ontology8 DOID:2373
MeSH34 D004612
ICD9CM27 282.1
SNOMED-CT via Orphanet57 191169008
UMLS via Orphanet61 C0013902
MESH via Orphanet35 D004612
ICD10 via Orphanet26 D58.1
ICD1025 D58.1

Related Diseases for Hereditary Elliptocytosis

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spherocytosis30.8ADD2, SPTA1, SPTB, SLC4A1, EPB42, ANK1
2hemolytic anemia30.6G6PD, RHD, RHAG, ANK1, HP, SLC4A1
3malaria30.5G6PD, RHD, GYPC, EPB41, HP, DARC
4pyropoikilocytosis30.3SPTA1
5beta thalassemia30.3SPTB, RHD, G6PD
6renal tubular acidosis30.3OSGEP, SLC4A1, SLC4A2
7viral hepatitis30.1G6PD
8neonatal jaundice30.1G6PD, RHD
9hemoglobinopathy30.1HP, G6PD
10plasmodium vivax malaria29.9DARC, G6PD
11homozygous hereditary elliptocytosis10.4
12thalassemia10.3
13hepatitis10.2
14elliptocytosis-110.2
15plasmodium malariae malaria10.1
16infectious mononucleosis10.1
17congenital toxoplasmosis10.1
18plasmodium falciparum malaria10.1
19cholelithiasis10.1
20hepatitis a10.1
21toxoplasmosis10.1
22vitamin b12 deficiency10.1
23ovalocytosis, southeast asian10.1
24spherocytic elliptocytosis10.1
25sickle cell anemia10.0SPTB
26blackwater fever10.0G6PD
27essential hypertension10.0ADD2, HP
28congenital dyserythropoietic anemia10.0SLC4A1, RHD
29autoimmune hemolytic anemia10.0G6PD, HP
30favism10.0HP, G6PD
31glucosephosphate dehydrogenase deficiency10.0HP, G6PD
32congenital hemolytic anemia10.0SPTB, HP, G6PD
33sickle cell disease10.0HP, RHD, G6PD
34paroxysmal nocturnal hemoglobinuria10.0G6PD, HP
35alpha thalassemia10.0G6PD, SLC4A1, SPTB
36methemoglobinemia10.0HP, G6PD
37bilirubin metabolic disorder10.0HP, G6PD
38kernicterus10.0RHD, G6PD
39cerebritis9.9
40hypersplenism9.9
41cerebral malaria9.9
42neonatal anemia9.9
43retinitis9.9
44deficiency anemia9.9G6PD, RHD, RHAG, ANK1, EPB41, HP

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



Diseases related to hereditary elliptocytosis

Clinical Features for Hereditary Elliptocytosis

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46OMIM
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Clinical features from OMIM:

130600,611804

Drugs & Therapeutics for Hereditary Elliptocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Elliptocytosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Elliptocytosis

Search NIH Clinical Center for Hereditary Elliptocytosis

Search CenterWatch for Hereditary Elliptocytosis

Genetic Tests for Hereditary Elliptocytosis

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22GTR
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Genetic tests related to Hereditary Elliptocytosis:

id Genetic test Affiliating Genes
1 Hereditary Elliptocytosis22

Anatomical Context for Hereditary Elliptocytosis

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32MalaCards
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MalaCards organs/tissues related to Hereditary Elliptocytosis:

32
Spleen, Skin, Eye, Heart

Animal Models for Hereditary Elliptocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6EPB41, HP, SPTB, SPTA1, ADD2, ANK1
2MP:00053678.3ANK1, EPB41, HP, SLC4A1, SPTB, SPTA1
3MP:00053857.2G6PD, ANK1, HP, SLC4A1, SPTB, SPTA1
4MP:00053876.8ANK1, CD5L, EPB41, EPB42, HP, DARC
5MP:00053766.5EPB41, ANK1, RHAG, RHD, G6PD, EPB42
6MP:00053975.6ADD2, G6PD, RHD, RHAG, ANK1, CD5L

Publications for Hereditary Elliptocytosis

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50PubMed
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Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Hereditary elliptocytosis. (23729040)
2013
2
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. (21858981)
2011
3
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
4
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. (16985305)
2003
5
Presumed hereditary elliptocytosis in a dog. (10590790)
1999
6
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (9322591)
1997
7
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. (9407765)
1997
8
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. (9207403)
1997
9
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207)
1996
10
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
11
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). (7868135)
1995
12
Molecular heterogeneity of hereditary elliptocytosis in Italy. (7843625)
1994
13
A rapid method for the detection of alpha I/65 hereditary elliptocytosis. (8480489)
1993
14
An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. (8423235)
1993
15
Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin. (1353056)
1992
16
Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. (1498324)
1992
17
Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans. (2040699)
1991
18
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
19
Spectrin modifications in a heterozygous case of both hereditary elliptocytosis and beta-thalassemia. (2301371)
1990
20
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. (2794061)
1989
21
Hereditary elliptocytosis in Africa. (2563138)
1989
22
Membrane studies on rod-shaped red cells in hereditary elliptocytosis: least haemolysis and normal sodium influx with decreased membrane lipids. (3179218)
1988
23
Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. (3332099)
1987
24
Partial deficiency of protein 4.1 in hereditary elliptocytosis. (3674005)
1987
25
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
26
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases. (3748797)
1986
27
A new abnormal variant of spectrin in black patients with hereditary elliptocytosis. (3922449)
1985
28
Red cell membrane sialoglycoprotein beta in homozygous and heterozygous 4.1(-) hereditary elliptocytosis. (2408666)
1985
29
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. (3965051)
1985
30
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association. (6725555)
1984
31
Effect of brilliant cresyl blue on erythrocytes in hereditary elliptocytosis. (6638014)
1983
32
Increased heat sensitivity of red blood cells in hereditary elliptocytosis with acquired cobalamin (vitamin B12) deficiency. (7082825)
1982
33
Homozygous hereditary elliptocytosis: implications for the function of membrane protein band 4.1. (7156170)
1982
34
Defective spectrin dimer-dimer association with hereditary elliptocytosis. (6952254)
1982
35
Erythrokinetics and mechanisms of anaemia in hereditary elliptocytosis and hereditary ovalocytosis. (6807777)
1982
36
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)
1981
37
Defective membrane skeleton assembly in hereditary elliptocytosis. (7330008)
1981
38
Characteristics of red blood cell survival from subjects with hereditary elliptocytosis. (729313)
1978
39
Red pulp of the spleen in hereditary elliptocytosis. (139018)
1977
40
beta+-Thalassaemia, Haemoglobin S and Hereditary elliptocytosis in a Zairian Family. Ischaemic costal necroses in a child with sickle cell beta+-Thalassaemia. (826082)
1976
41
Fine structures of the spleen in hereditary elliptocytosis. (998237)
1976
42
Hereditary elliptocytosis and Plasmodium falciparum malaria. (4623244)
1972
43
Hereditary elliptocytosis in a Chinese family. (5100254)
1971
44
Hereditary elliptocytosis: an unusual presentation of hemolysis in the newborn associated with transient morphologic abnormalities. (5806250)
1969
45
Hereditary elliptocytosis and primary renal tubular acidosis in a single family. (5642345)
1968
46
Cholelithiasis in the newborn infant in association with congenital toxoplasmosis and hereditary elliptocytosis. (5946658)
1966
47
INCIDENCE, HAEMATOLOGICAL, ENZYMOLOGICAL FINDINGS AND HAEMOLYSIS IN THE HEREDITARY ELLIPTOCYTOSIS. STUDY OF FIFTY FOUR CASES. (14337633)
1965
48
HEREDITARY ELLIPTOCYTOSIS WITH HEMOLYTIC ANEMIA. REPORT OF SIX CASES. (14072371)
1963
49
Hereditary elliptocytosis with acute lymphoblastic leukaemia. (13921142)
1962
50
Haemolysis and glycolytic metabolism in hereditary elliptocytosis. (13884222)
1962

Genetic Variations for Hereditary Elliptocytosis

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Expression for genes affiliated with Hereditary Elliptocytosis

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

Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for genes affiliated with Hereditary Elliptocytosis

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53Reactome
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Pathways related to Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0SLC4A1, RHAG
29.8SLC4A2, SLC4A1
39.7SPTA1, SPTB, ANK1

Compounds for genes affiliated with Hereditary Elliptocytosis

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28IUPHAR, 44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Hereditary Elliptocytosis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1amtb28 4411.3RHD, RHAG
2naoh4410.2SLC4A1, RHD
3methylammonium4410.2RHAG, RHD
423-diphosphoglycerate4410.1G6PD, HP
5mefloquine44 1111.0G6PD, RHD
6thiobarbituric acid4410.0G6PD, HP
7oxalate4410.0SLC4A1, RHD
8stilbene4410.0SLC4A1, SLC4A2
9zinc protoporphyrin4410.0HP, G6PD
10diamide449.9RHD, G6PD
11dids44 2810.8RHD, SLC4A1, SLC4A2
12ammonium449.8SLC4A2, RHAG, RHD
13phosphatidylserine44 28 1111.6G6PD, RHD, ANK1, SPTB
14bicarbonate449.6RHD, RHAG, SLC4A1, SLC4A2
15citrate449.4SLC4A1, HP, G6PD
16atp44 289.8G6PD, RHD, GYPC, HP, SLC4A1, SLC4A2
17glyceraldehyde 3-phosphate448.6SPTB, G6PD, RHD, GYPC, DARC, SLC4A1
18sodium44 249.6ADD2, SPTB, SLC4A2, SLC4A1, HP, GYPC
19lipid448.3G6PD, RHD, RHAG, GYPC, ANK1, HP
20tyrosine448.0RHD, GYPC, ANK1, HP, DARC, SLC4A1

GO Terms for genes affiliated with Hereditary Elliptocytosis

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic to internal side of plasma membraneGO:0312359.9SPTA1, SPTB
2spectrinGO:0080919.9SPTA1, SPTB, EPB41
3spectrin-associated cytoskeletonGO:0147319.6ANK1, EPB41, SPTB, SPTA1
4basolateral plasma membraneGO:0163239.4SLC4A2, SLC4A1, ANK1
5cortical cytoskeletonGO:0308639.2SLC4A1, EPB42, EPB41, ANK1, GYPC
6cytoskeletonGO:0058568.2ANK1, EPB41L3, EPB42, ADD3
7plasma membraneGO:0058866.0EPB41L3, ANK1, GYPC, RHAG, EPB41, EPB42

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular ion homeostasisGO:00687310.2SLC4A1, RHAG
2plasma membrane organizationGO:00700910.1SPTA1, SPTB
3porphyrin-containing compound biosynthetic processGO:0067799.9SPTA1, SPTB, ANK1
4erythrocyte maturationGO:0432499.9EPB42, G6PD
5anion transportGO:0068209.9SLC4A2, SLC4A1
6actin filament cappingGO:0516939.7SPTA1, SPTB
7cortical actin cytoskeleton organizationGO:0308669.7EPB41, EPB41L3
8bicarbonate transportGO:0157019.7SLC4A2, SLC4A1, RHAG
9positive regulation of protein bindingGO:0320929.6EPB41, SPTA1, ADD2
10hemopoiesisGO:0300979.6SPTB, SPTA1, ADD2
11regulation of cell shapeGO:0083609.4EPB41L3, EPB42, SPTA1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ammonium transmembrane transporter activityGO:00851910.0RHD, RHAG
2ankyrin bindingGO:0305069.9SPTB, SLC4A1, RHAG
3anion transmembrane transporter activityGO:0085099.8SLC4A2, SLC4A1
4inorganic anion exchanger activityGO:0054529.8SLC4A2, SLC4A1
5chloride transmembrane transporter activityGO:0151089.7SLC4A2, SLC4A1
6spectrin bindingGO:0305079.4ANK1, EPB41, ADD2
7actin filament bindingGO:0510159.1ADD2, SPTA1, SPTB
8structural constituent of cytoskeletonGO:0052008.1ADD3, ANK1, EPB41L3, EPB41, EPB42, SPTB
9actin bindingGO:0037798.0EPB41L3, EPB41, SLC4A1, SPTB, ADD3, ADD2

Products for genes affiliated with Hereditary Elliptocytosis

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Sources for Hereditary Elliptocytosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet