HE
MCID: HRD012
MIFTS: 58

Hereditary Elliptocytosis (HE) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Hereditary Elliptocytosis

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43NIH Rare Diseases, 65Wikipedia, 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 (Diego blood group)), and among its related pathways are Malaria and Interaction between L1 and Ankyrins. The compounds naoh and oxalate 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:65 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Description from OMIM:47 611804,130600

Aliases & Classifications for Hereditary Elliptocytosis

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 49Orphanet, 47OMIM, 45Novoseek, 62UMLS, 27ICD9CM, 58SNOMED-CT, 40NCIt, 35MeSH, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hereditary elliptocytosis 8 43 22 10 49
ovalocytosis 8 47
elliptocytosis, hereditary 62
congenital elliptocytosis 8
elliptocytosis hereditary 45
he 49


External Ids:

Disease Ontology8 DOID:2373
ICD9CM27 282.1
MeSH35 D004612
SNOMED-CT via Orphanet59 191169008
UMLS via Orphanet63 C0013902
MESH via Orphanet36 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 in the Hereditary Elliptocytosis family:

Elliptocytosis 3 Elliptocytosis 2
Elliptocytosis-1

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1pyropoikilocytosis31.1SPTA1
2hereditary spherocytosis30.9EPB42
3hemolytic anemia30.5ANK1, SPTB, G6PD, SLC4A1, RHD, HP
4renal tubular acidosis30.4SLC4A2, OSGEP, SLC4A1
5beta thalassemia30.4RHD, G6PD, SPTB
6malaria30.4GYPC, DARC, SLC4A1, RHD, EPB41, G6PD
7hemoglobinopathy30.2G6PD, HP
8plasmodium falciparum malaria30.2G6PD, HP
9plasmodium vivax malaria30.1G6PD, DARC
10cerebral malaria30.0G6PD, HP
11thalassemia10.4
12hepatitis10.3
13infectious mononucleosis10.1
14cholelithiasis10.1
15hepatitis a10.1
16congenital toxoplasmosis10.1
17toxoplasmosis10.1
18viral hepatitis10.1
19vitamin b12 deficiency10.1
20ovalocytosis, southeast asian10.1
21primary renal tubular acidosis10.1
22blood group incompatibility10.1G6PD
23blackwater fever10.1G6PD
24congenital dyserythropoietic anemia10.1RHD, SLC4A1
25kernicterus10.1RHD, G6PD
26protein s deficiency10.0SPTB, RHD
27neonatal jaundice10.0G6PD, RHD
28sickle cell anemia10.0HP, G6PD
29favism10.0G6PD, HP
30glucosephosphate dehydrogenase deficiency10.0G6PD, HP
31hemoglobinuria10.0G6PD, HP
32methemoglobinemia10.0HP, G6PD
33autoimmune hemolytic anemia10.0G6PD, HP
34paroxysmal nocturnal hemoglobinuria10.0HP, G6PD
35congenital hemolytic anemia10.0HP, SPTB, G6PD
36bilirubin metabolic disorder10.0HP, G6PD
37sickle cell disease10.0G6PD, RHD, HP
38alpha thalassemia10.0SPTB, G6PD, SLC4A1
39hypersplenism10.0
40cerebritis10.0
41neonatal anemia10.0
42retinitis10.0
43acute kidney failure10.0G6PD, HP
44galactosemia9.9G6PD, SLC4A2, HP
45deficiency anemia9.8SPTB, SPTA1, G6PD, EPB41, ADD2, ANK1

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



Diseases related to hereditary elliptocytosis

Symptoms for Hereditary Elliptocytosis

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Sources:
47OMIM
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Clinical features from OMIM:

611804,130600

Drugs & Therapeutics for Hereditary Elliptocytosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hereditary Elliptocytosis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Hereditary Elliptocytosis:

33
Spleen, Skin, Eye

Animal Models for Hereditary Elliptocytosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1SPTA1, EPB41, ADD2, ANK1, HP, SPTB
2MP:00053677.7SPTB, SPTA1, EPB41, ADD2, ANK1, HP
3MP:00053856.9SPTB, SPTA1, G6PD, ADD2, ADD3, ANK1
4MP:00053876.6DARC, SPTB, SPTA1, EPB42, EPB41, ADD2
5MP:00053765.9EPB42, G6PD, SPTA1, SPTB, DARC, EPB41
6MP:00053975.8SLC4A1, SPTB, SPTA1, G6PD, EPB42, EPB41

Publications for Hereditary Elliptocytosis

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Sources:
52PubMed
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Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Hereditary elliptocytosis. (23729040)
2013
2
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. (22807418)
2012
3
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. (21858981)
2011
4
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
5
Malaria and hereditary elliptocytosis. (17696197)
2008
6
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. (17264559)
2001
7
Hereditary elliptocytosis complicating pregnancy. (15512307)
1999
8
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (9746802)
1998
9
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. (9882098)
1998
10
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (9322591)
1997
11
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144)
1996
12
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349)
1996
13
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton. (8119389)
1994
14
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. (7803301)
1994
15
Molecular heterogeneity of hereditary elliptocytosis in Italy. (7843625)
1994
16
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. (8490186)
1993
17
Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child]. (1635163)
1992
18
Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin. (1353056)
1992
19
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
20
Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. (1932756)
1991
21
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
22
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. (2567189)
1989
23
A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis. (3058231)
1988
24
Confirming or ruling out hereditary elliptocytosis. (3124471)
1988
25
Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. (3332099)
1987
26
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
27
Abnormal spectrin in hereditary elliptocytosis. (3940543)
1986
28
Homozygous hereditary elliptocytosis with hemolytic anemia. (6719166)
1984
29
A case of hereditary elliptocytosis associated with constitutional indocyanine green excretory defect. (6727059)
1984
30
Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis. (6236232)
1984
31
Hereditary elliptocytosis with a spectrin molecular defect in a white patient. (6426236)
1984
32
Hereditary elliptocytosis being the propositus with skeletal malformations 66 years old. (6636947)
1983
33
Increased heat sensitivity of red blood cells in hereditary elliptocytosis with acquired cobalamin (vitamin B12) deficiency. (7082825)
1982
34
Spectrin beta-chain variant associated with hereditary elliptocytosis. (7119110)
1982
35
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)
1981
36
Defective membrane skeleton assembly in hereditary elliptocytosis. (7330008)
1981
37
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. (7229027)
1981
38
Hereditary elliptocytosis with haemolytic crisis following infection. A case report. (735409)
1978
39
Pyknocytosis in a neonate: an unusual presentation of hereditary elliptocytosis. (830464)
1977
40
Hereditary elliptocytosis associated with pernicious anaemia. (4217073)
1974
41
Combination of hereditary elliptocytosis and hereditary spherocytosis. (4426130)
1974
42
A red cell membrane protein abnormality in hereditary elliptocytosis. (4752708)
1973
43
Hereditary elliptocytosis and Plasmodium falciparum malaria. (4623244)
1972
44
Hereditary elliptocytosis: a report of two families from new guinea. (6018209)
1967
45
Cholelithiasis in the newborn infant in association with congenital toxoplasmosis and hereditary elliptocytosis. (5946658)
1966
46
Case report. Hereditary elliptocytosis with glucose-6-phosphate dehyrogenase deficiency and haemolytic anaemia. (13973269)
1963
47
HEREDITARY ELLIPTOCYTOSIS. (14081107)
1963
48
Compensated and uncompensated hyperhaemolysis in hereditary elliptocytosis. (13690182)
1960
49
Hereditary elliptocytosis and hemoglobin C trait; a report of two cases. (13304517)
1956
50
Hereditary elliptocytosis in a family in Dalecarlia. (14387575)
1955

Variations for Hereditary Elliptocytosis

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Expression for genes affiliated with Hereditary Elliptocytosis

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2BioGPS, 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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50PathCards, 30KEGG, 55Reactome
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Pathways related to Hereditary Elliptocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GYPC, DARC
29.5ANK1, SPTA1, SPTB

Compounds for genes affiliated with Hereditary Elliptocytosis

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Hereditary Elliptocytosis according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1naoh4510.3SLC4A1, RHD
2oxalate4510.2RHD, SLC4A1
3mefloquine45 51 1112.0RHD, G6PD
423-diphosphoglycerate4510.0G6PD, HP
5thiobarbituric acid4510.0G6PD, HP
6zinc protoporphyrin4510.0G6PD, HP
7stilbene4510.0SLC4A1, SLC4A2
8diamide4510.0RHD, G6PD
9tocopherol459.9G6PD, HP
10glutaraldehyde459.8G6PD, SPTB
11starch459.8HP, G6PD
12cellulose acetate459.8G6PD, HP
13citrate459.7SLC4A1, HP, G6PD
14folate459.7G6PD, HP, SLC4A1
15ammonium459.7SLC4A2, RHD
16dids45 2910.7SLC4A1, SLC4A2, RHD
17bicarbonate459.6RHD, SLC4A2, SLC4A1
18sulfasalazine29 45 51 1112.6HP, G6PD
19phospholipid459.6SLC4A1, RHD, HP
20chloride459.5SLC4A1, SLC4A2, GYPC
21phosphatidylserine45 29 1111.4SPTB, G6PD, ANK1, RHD
22glucose459.2SPTB, G6PD, HP, RHD, SLC4A1
23alanine458.9DARC, GYPC, HP, SLC4A1
24atp45 299.6G6PD, GYPC, HP, RHD, SLC4A2, SLC4A1
25glyceraldehyde 3-phosphate458.4SLC4A1, DARC, SPTB, G6PD, GYPC, RHD
26serine458.3SPTB, G6PD, ADD2, GYPC, HP, RHD
27sodium45 249.3SPTB, ADD2, GYPC, HP, SLC4A2, SLC4A1
28lipid458.2DARC, SPTB, G6PD, GYPC, ANK1, HP
29tyrosine458.0DARC, ADD2, GYPC, ANK1, HP, RHD

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
1spectrinGO:0080919.7EPB41, SPTA1, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.7SPTA1, SPTB
3spectrin-associated cytoskeletonGO:0147319.3EPB41, SPTA1, SPTB, ANK1
4basolateral plasma membraneGO:0163239.2ANK1, SLC4A2, SLC4A1
5cortical cytoskeletonGO:0308639.1EPB42, EPB41, GYPC, ANK1, SLC4A1
6plasma membraneGO:0058866.5SLC4A1, DARC, SLC4A2, ANK1, GYPC, ADD3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane organizationGO:00700910.0SPTB, SPTA1
2porphyrin-containing compound biosynthetic processGO:0067799.7ANK1, SPTA1, SPTB
3actin filament cappingGO:0516939.7SPTA1, SPTB
4erythrocyte maturationGO:0432499.7EPB42, G6PD
5anion transportGO:0068209.6SLC4A1, SLC4A2
6bicarbonate transportGO:0157019.6SLC4A1, SLC4A2
7positive regulation of protein bindingGO:0320929.3SPTA1, EPB41, ADD2
8hemopoiesisGO:0300979.3ADD2, SPTA1, SPTB

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:0305069.9SLC4A1, SPTB
2anion transmembrane transporter activityGO:0085099.8SLC4A2, SLC4A1
3chloride transmembrane transporter activityGO:0151089.7SLC4A2, SLC4A1
4inorganic anion exchanger activityGO:0054529.6SLC4A2, SLC4A1
5actin filament bindingGO:0510159.2ADD2, SPTA1, SPTB
6spectrin bindingGO:0305079.1EPB41, ADD2, ANK1
7structural constituent of cytoskeletonGO:0052008.7SPTB, EPB42, EPB41, ADD3, ANK1, SPTA1
8actin bindingGO:0037798.6SLC4A1, SPTB, ADD3, ADD2, EPB41
9calmodulin bindingGO:0055168.6EPB41, ADD2, ADD3
10protein bindingGO:0055157.7SLC4A1, HP, SPTA1, ANK1, GYPC, EPB41

Products for genes affiliated with Hereditary Elliptocytosis

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Sources for Hereditary Elliptocytosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet