MCID: HRD012
MIFTS: 40

Hereditary Elliptocytosis

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

Aliases & Classifications for Hereditary Elliptocytosis

MalaCards integrated aliases for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 12 77 54 38 30 6 15
Elliptocytosis, Hereditary 45 74
Congenital Elliptocytosis 12
Elliptocytosis Hereditary 56
Ovalocytosis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2373
KEGG 38 H00231
ICD9CM 36 282.1
MeSH 45 D004612
NCIt 51 C35882
SNOMED-CT 69 58864003
ICD10 34 D58.1
UMLS 74 C0013902

Summaries for Hereditary Elliptocytosis

NIH Rare Diseases : 54 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.

MalaCards based summary : Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis, hereditary and beta-thalassemia. An important gene associated with Hereditary Elliptocytosis is EPB41 (Erythrocyte Membrane Protein Band 4.1), and among its related pathways/superpathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include spleen, skin and eye, and related phenotypes are cardiovascular system and hematopoietic system

Disease Ontology : 12 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 : 77 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 pyropoikilocytosis, hereditary 32.5 SPTA1 SPTB
2 beta-thalassemia 29.9 G6PD SPTB
3 hemolytic anemia 29.5 ANK1 G6PD SLC4A1 SPTA1 SPTB
4 hereditary spherocytosis 28.5 ANK1 EPB41 G6PD GYPC SLC4A1 SPTA1
5 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 12.1
6 ovalocytosis, southeast asian 12.0
7 elliptocytosis 1 11.5
8 elliptocytosis 3 11.3
9 elliptocytosis 2 11.2
10 blood group, gerbich system 11.2
11 renal tubular acidosis, distal, autosomal dominant 11.1
12 malaria 10.3
13 thalassemia 10.2
14 hepatitis 10.1
15 renal tubular acidosis 10.1
16 familial mediterranean fever 10.0
17 hemoglobin h disease 10.0
18 hydroxyacyl glutathione hydrolase deficiency 10.0
19 vitamin b12 deficiency 10.0
20 thrombosis 10.0
21 cholelithiasis 10.0
22 hepatitis a 10.0
23 congenital toxoplasmosis 10.0
24 plasmodium falciparum malaria 10.0
25 viral hepatitis 10.0
26 glucosephosphate dehydrogenase deficiency 10.0
27 toxoplasmosis 10.0
28 sickle cell disease 10.0
29 renal tubular acidosis, distal 10.0
30 blood group incompatibility 10.0 G6PD SLC4A1
31 cryohydrocytosis 10.0
32 thymoma, familial 10.0
33 neonatal anemia 10.0
34 plasmodium vivax malaria 10.0
35 bilirubin metabolic disorder 10.0
36 thymoma 10.0
37 thymic carcinoma 10.0
38 hypersplenism 10.0
39 bowenoid papulosis 10.0
40 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.9 EPB41 G6PD
41 kernicterus 9.9 G6PD SLC4A1
42 neonatal jaundice 9.9 G6PD SPTA1
43 vaginal discharge 9.8 GYPC SPTB
44 congenital hemolytic anemia 9.5 ANK1 G6PD SPTA1 SPTB

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



Diseases related to Hereditary Elliptocytosis

Symptoms & Phenotypes for Hereditary Elliptocytosis

MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ADD3 ANK1 G6PD SLC4A1 SPTA1 SPTB
2 hematopoietic system MP:0005397 9.7 ADD3 ANK1 EPB41 G6PD SLC4A1 SPTA1
3 liver/biliary system MP:0005370 9.26 ANK1 EPB41 SPTA1 SPTB
4 renal/urinary system MP:0005367 9.02 ANK1 EPB41 SLC4A1 SPTA1 SPTB

Drugs & Therapeutics for Hereditary Elliptocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Novel Mutation of the Spectrin Gene Completed NCT00723567

Search NIH Clinical Center for Hereditary Elliptocytosis

Cochrane evidence based reviews: elliptocytosis, hereditary

Genetic Tests for Hereditary Elliptocytosis

Genetic tests related to Hereditary Elliptocytosis:

# Genetic test Affiliating Genes
1 Hereditary Elliptocytosis 30

Anatomical Context for Hereditary Elliptocytosis

MalaCards organs/tissues related to Hereditary Elliptocytosis:

42
Spleen, Skin, Eye

Publications for Hereditary Elliptocytosis

Articles related to Hereditary Elliptocytosis:

(show top 50) (show all 193)
# Title Authors Year
1
Hereditary elliptocytosis of donor red blood cell unit detected during Coombs crossmatch. ( 30727041 )
2019
2
Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the I+-spectrin gene. ( 29729090 )
2018
3
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. ( 29484404 )
2018
4
Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder. ( 30369757 )
2018
5
Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity. ( 30393954 )
2018
6
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
7
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
8
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. ( 26377499 )
2015
9
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. ( 26557672 )
2015
10
Erythrocyte deformability and hereditary elliptocytosis: A case report. ( 25261429 )
2014
11
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
12
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. ( 25332561 )
2014
13
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. ( 23974198 )
2013
14
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. ( 24003435 )
2013
15
Hereditary elliptocytosis. ( 23729040 )
2013
16
Transient aplastic crisis in hereditary elliptocytosis. ( 22294270 )
2012
17
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. ( 22807418 )
2012
18
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. ( 21858981 )
2011
19
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
20
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
21
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. ( 20339087 )
2010
22
Malaria and hereditary elliptocytosis. ( 17696197 )
2008
23
A case of hereditary elliptocytosis. ( 17984044 )
2007
24
Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. ( 12947004 )
2004
25
Hereditary elliptocytosis: spectrin and protein 4.1R. ( 15071791 )
2004
26
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. ( 15757247 )
2004
27
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. ( 16985305 )
2003
28
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
29
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. ( 17264559 )
2001
30
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. ( 11154235 )
2001
31
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. ( 10845937 )
2000
32
Presumed hereditary elliptocytosis in a dog. ( 10590790 )
1999
33
Hereditary elliptocytosis complicating pregnancy. ( 15512307 )
1999
34
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. ( 9746802 )
1998
35
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. ( 9882098 )
1998
36
Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. ( 9691144 )
1998
37
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. ( 9576854 )
1998
38
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587 )
1997
39
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. ( 9322591 )
1997
40
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. ( 9407765 )
1997
41
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. ( 9207403 )
1997
42
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
43
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. ( 8790144 )
1996
44
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921 )
1996
45
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. ( 8857939 )
1996
46
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. ( 8844207 )
1996
47
Hemolytic anemia precipitated by pregnancy in a patient with hereditary elliptocytosis. ( 8756106 )
1996
48
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. ( 8956043 )
1996
49
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. ( 9037349 )
1996
50
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). ( 7868135 )
1995

Variations for Hereditary Elliptocytosis

ClinVar genetic disease variations for Hereditary Elliptocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPB41 NM_203342.2(EPB41): c.444_450delGAATCAG (p.Asn149Profs) deletion Pathogenic rs869025285 GRCh38 Chromosome 1, 29018389: 29018395
2 EPB41 NM_203342.2(EPB41): c.444_450delGAATCAG (p.Asn149Profs) deletion Pathogenic rs869025285 GRCh37 Chromosome 1, 29344901: 29344907

Expression for Hereditary Elliptocytosis

Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for Hereditary Elliptocytosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 ANK1 SPTA1 SPTB
2 10.28 ANK1 SPTA1 SPTB

GO Terms for Hereditary Elliptocytosis

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 ADD3 ANK1 EPB41 SPTA1 SPTB
2 cell cortex GO:0005938 9.56 ADD3 EPB41 SPTA1 SPTB
3 cytoplasmic side of plasma membrane GO:0009898 9.46 ANK1 EPB41 G6PD SPTA1
4 spectrin GO:0008091 9.37 SPTA1 SPTB
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.32 SPTA1 SPTB
6 cortical cytoskeleton GO:0030863 9.26 EPB41 GYPC SLC4A1 SPTA1
7 spectrin-associated cytoskeleton GO:0014731 8.92 ANK1 EPB41 SPTA1 SPTB

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein binding GO:0032092 9.16 EPB41 SPTA1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.13 ANK1 SPTA1 SPTB
3 actin filament capping GO:0051693 8.62 SPTA1 SPTB

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.54 ADD3 ANK1 EPB41
2 actin filament binding GO:0051015 9.5 ADD3 SPTA1 SPTB
3 actin binding GO:0003779 9.46 ADD3 EPB41 SPTA1 SPTB
4 ankyrin binding GO:0030506 9.26 SLC4A1 SPTB
5 spectrin binding GO:0030507 9.13 ADD3 ANK1 EPB41
6 structural constituent of cytoskeleton GO:0005200 9.02 ADD3 ANK1 EPB41 SPTA1 SPTB

Sources for Hereditary Elliptocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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