MCID: HRD012
MIFTS: 52

Hereditary Elliptocytosis malady

Immune, Blood categories

Summaries for Hereditary Elliptocytosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 pyropoikilocytosis and hereditary spherocytosis. 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, heart and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Wikipedia:64 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Description from OMIM:47 130600,611804

Aliases & Classifications for Hereditary Elliptocytosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 49Orphanet, 47OMIM, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary elliptocytosis:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

hereditary elliptocytosis 8 43 22 10 49
ovalocytosis 8 47
elliptocytosis, hereditary 61
elliptocytosis hereditary 45
congenital elliptocytosis 8


External Ids:

Disease Ontology8 DOID:2373
MeSH35 D004612
ICD9CM27 282.1
SNOMED-CT via Orphanet58 191169008
UMLS via Orphanet62 C0013902
MESH via Orphanet36 D004612
ICD10 via Orphanet26 D58.1
ICD1025 D58.1

Related Diseases for Hereditary Elliptocytosis

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1pyropoikilocytosis30.9SPTA1
2hereditary spherocytosis30.8ADD2, SPTA1, SPTB, SLC4A1, EPB42, ANK1
3thalassemia30.4G6PD, SLC4A1, SPTB
4beta thalassemia30.3SPTB, RHD, G6PD
5renal tubular acidosis30.3OSGEP, SLC4A1, SLC4A2
6viral hepatitis30.1G6PD
7plasmodium vivax malaria29.9DARC, G6PD
8ovalocytosis, southeast asian10.7
9homozygous hereditary elliptocytosis10.6
10pyropoikilocytosis hereditary10.6
11protein s deficiency10.5
12protein c deficiency10.4
13protein r deficiency10.4
14elliptocytosis-110.3
15hepatitis e10.2
16gilbert syndrome10.1
17hepatitis b10.1
18infectious mononucleosis10.1
19congenital toxoplasmosis10.1
20plasmodium falciparum malaria10.1
21cholelithiasis10.1
22hepatitis a10.1
23b cell deficiency10.1
24toxoplasmosis10.1
25renal tubular acidosis, distal10.1
26guillain-barr� syndrome10.1
27malaria, severe10.1
28primary renal tubular acidosis10.1
29spherocytic elliptocytosis10.1
30hypersplenism10.0
31cerebral malaria10.0
32renal tubular acidosis, distal, autosomal recessive10.0
33sickle cell anemia10.0SPTB
34blackwater fever10.0G6PD
35essential hypertension10.0ADD2, HP
36congenital dyserythropoietic anemia10.0SLC4A1, RHD
37autoimmune hemolytic anemia10.0G6PD, HP
38neonatal jaundice10.0G6PD, RHD
39favism10.0HP, G6PD
40glucosephosphate dehydrogenase deficiency10.0HP, G6PD
41hemoglobinopathy10.0HP, G6PD
42congenital hemolytic anemia10.0SPTB, HP, G6PD
43sickle cell disease10.0HP, RHD, G6PD
44paroxysmal nocturnal hemoglobinuria10.0G6PD, HP
45methemoglobinemia10.0HP, G6PD
46bilirubin metabolic disorder10.0HP, G6PD
47kernicterus10.0RHD, G6PD
48hemolytic anemia10.0G6PD, RHD, RHAG, ANK1, HP, SLC4A1
49malaria10.0G6PD, RHD, GYPC, EPB41, HP, DARC
50deficiency 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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

130600,611804

Drugs & Therapeutics for Hereditary Elliptocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
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Genetic tests related to Hereditary Elliptocytosis:

id Genetic test Affiliating Genes
1 Hereditary Elliptocytosis22

Anatomical Context for Hereditary Elliptocytosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Elliptocytosis:

33
Spleen, Heart, Skin

Animal Models for Hereditary Elliptocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hereditary Elliptocytosis

Sources:
51PubMed
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Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
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
2
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. (24003435)
2013
3
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. (20339087)
2010
4
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. (15757247)
2004
5
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. (10845937)
2000
6
Hereditary spherocytosis and elliptocytosis erythrocytes show a normal transbilayer phospholipid distribution. (10381528)
1999
7
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. (9576854)
1998
8
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. (9207403)
1997
9
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349)
1996
10
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207)
1996
11
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
12
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). (7868135)
1995
13
Molecular heterogeneity of hereditary elliptocytosis in Italy. (7843625)
1994
14
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28. (7819065)
1994
15
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
16
A rapid method for the detection of alpha I/65 hereditary elliptocytosis. (8480489)
1993
17
Diffusion of a particular 4.1(-) hereditary elliptocytosis allele in the French Northern Alps. (8478372)
1993
18
Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants. (8136282)
1993
19
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
20
Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. (1932756)
1991
21
Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps. (1912588)
1991
22
Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. (1975598)
1990
23
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
24
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
25
Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state. (3337911)
1988
26
Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. (3332099)
1987
27
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
28
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. (3597773)
1987
29
A new variant of the alpha subunit of spectrin in hereditary elliptocytosis. (3801663)
1987
30
Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. (3755799)
1986
31
Homozygous hereditary elliptocytosis with hemolytic anemia. (6719166)
1984
32
A case of hereditary elliptocytosis associated with constitutional indocyanine green excretory defect. (6727059)
1984
33
Hereditary elliptocytosis with a spectrin molecular defect in a white patient. (6426236)
1984
34
A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosis. (6487803)
1984
35
Hereditary elliptocytosis being the propositus with skeletal malformations 66 years old. (6636947)
1983
36
Hereditary elliptocytosis with protein band 4.1 deficiency in the dog. (6821703)
1983
37
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
38
Increased heat sensitivity of red blood cells in hereditary elliptocytosis with acquired cobalamin (vitamin B12) deficiency. (7082825)
1982
39
Spectrin beta-chain variant associated with hereditary elliptocytosis. (7119110)
1982
40
Defective membrane skeleton assembly in hereditary elliptocytosis. (7330008)
1981
41
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. (7229027)
1981
42
Characteristics of red blood cell survival from subjects with hereditary elliptocytosis. (729313)
1978
43
Red pulp of the spleen in hereditary elliptocytosis. (139018)
1977
44
A red cell membrane protein abnormality in hereditary elliptocytosis. (4752708)
1973
45
Hereditary elliptocytosis and Plasmodium falciparum malaria. (4623244)
1972
46
Case report. Hereditary elliptocytosis with glucose-6-phosphate dehyrogenase deficiency and haemolytic anaemia. (13973269)
1963
47
Hereditary elliptocytosis in two Nigerian families. (13809318)
1959
48
Hereditary elliptocytosis and hemoglobin C trait; a report of two cases. (13304517)
1956
49
Hereditary ovalocytosis (elliptocytosis) with hypersplenism. (14349422)
1955
50
The life span of the elliptocyte; hereditary elliptocytosis and its relationship to other familial hemolytic diseases. (13115472)
1954

Genetic Variations for Hereditary Elliptocytosis

Expression for genes affiliated with Hereditary Elliptocytosis

Sources:
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

Sources:
54Reactome
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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

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Hereditary Elliptocytosis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1amtb29 4511.3RHD, RHAG
2naoh4510.2SLC4A1, RHD
3methylammonium4510.2RHAG, RHD
423-diphosphoglycerate4510.1G6PD, HP
5mefloquine45 1111.0G6PD, RHD
6thiobarbituric acid4510.0G6PD, HP
7oxalate4510.0SLC4A1, RHD
8stilbene4510.0SLC4A1, SLC4A2
9zinc protoporphyrin4510.0HP, G6PD
10diamide459.9RHD, G6PD
11dids45 2910.8RHD, SLC4A1, SLC4A2
12ammonium459.8SLC4A2, RHAG, RHD
13phosphatidylserine45 29 1111.6G6PD, RHD, ANK1, SPTB
14bicarbonate459.6RHD, RHAG, SLC4A1, SLC4A2
15citrate459.4SLC4A1, HP, G6PD
16atp45 299.8G6PD, RHD, GYPC, HP, SLC4A1, SLC4A2
17glyceraldehyde 3-phosphate458.6SPTB, G6PD, RHD, GYPC, DARC, SLC4A1
18sodium45 249.6ADD2, SPTB, SLC4A2, SLC4A1, HP, GYPC
19lipid458.3G6PD, RHD, RHAG, GYPC, ANK1, HP
20tyrosine458.0RHD, GYPC, ANK1, HP, DARC, SLC4A1

GO Terms for genes affiliated with Hereditary Elliptocytosis

Sources:
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

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