MCID: HRD012
MIFTS: 42

Hereditary Elliptocytosis

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

Aliases & Classifications for Hereditary Elliptocytosis

MalaCards integrated aliases for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 12 76 53 37 29 6 15
Elliptocytosis, Hereditary 44 73
Congenital Elliptocytosis 12
Elliptocytosis Hereditary 55
Ovalocytosis 12

Classifications:



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Disease Ontology 12 DOID:2373
ICD10 33 D58.1
ICD9CM 35 282.1
MeSH 44 D004612
KEGG 37 H00231
UMLS 73 C0013902

Summaries for Hereditary Elliptocytosis

NIH Rare Diseases : 53 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 hemolytic anemia. 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 hematopoietic system and cardiovascular 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 : 76 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.92 EPB41 SLC4A1 SPTA1 ADD1 ADD2 SPTB
2 cardiovascular system MP:0005385 9.85 SLC4A1 SPTA1 ADD2 SPTB ADD3 ANK1
3 homeostasis/metabolism MP:0005376 9.8 EPB41 SLC4A1 ADD1 SPTA1 ADD2 SPTB
4 immune system MP:0005387 9.63 EPB41 SLC4A1 SPTA1 ADD2 SPTB ANK1
5 liver/biliary system MP:0005370 9.35 EPB41 SPTA1 ADD2 SPTB ANK1
6 renal/urinary system MP:0005367 9.1 EPB41 SLC4A1 SPTA1 ADD2 SPTB ANK1

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 29

Anatomical Context for Hereditary Elliptocytosis

MalaCards organs/tissues related to Hereditary Elliptocytosis:

41
Spleen, Skin, Eye

Publications for Hereditary Elliptocytosis

Articles related to Hereditary Elliptocytosis:

(show top 50) (show all 188)
# Title Authors Year
1
Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the I+-spectrin gene. ( 29729090 )
2018
2
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. ( 29484404 )
2018
3
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
4
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
5
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. ( 26377499 )
2015
6
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. ( 26557672 )
2015
7
Erythrocyte deformability and hereditary elliptocytosis: A case report. ( 25261429 )
2014
8
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
9
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. ( 25332561 )
2014
10
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. ( 23974198 )
2013
11
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. ( 24003435 )
2013
12
Hereditary elliptocytosis. ( 23729040 )
2013
13
Transient aplastic crisis in hereditary elliptocytosis. ( 22294270 )
2012
14
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. ( 22807418 )
2012
15
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. ( 21858981 )
2011
16
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
17
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
18
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. ( 20339087 )
2010
19
Malaria and hereditary elliptocytosis. ( 17696197 )
2008
20
A case of hereditary elliptocytosis. ( 17984044 )
2007
21
Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. ( 12947004 )
2004
22
Hereditary elliptocytosis: spectrin and protein 4.1R. ( 15071791 )
2004
23
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. ( 15757247 )
2004
24
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. ( 16985305 )
2003
25
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
26
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. ( 17264559 )
2001
27
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. ( 11154235 )
2001
28
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. ( 10845937 )
2000
29
Presumed hereditary elliptocytosis in a dog. ( 10590790 )
1999
30
Hereditary elliptocytosis complicating pregnancy. ( 15512307 )
1999
31
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. ( 9746802 )
1998
32
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. ( 9882098 )
1998
33
Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. ( 9691144 )
1998
34
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. ( 9576854 )
1998
35
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587 )
1997
36
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. ( 9322591 )
1997
37
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. ( 9407765 )
1997
38
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. ( 9207403 )
1997
39
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
40
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. ( 8790144 )
1996
41
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921 )
1996
42
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. ( 8857939 )
1996
43
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. ( 8844207 )
1996
44
Hemolytic anemia precipitated by pregnancy in a patient with hereditary elliptocytosis. ( 8756106 )
1996
45
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. ( 8956043 )
1996
46
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. ( 9037349 )
1996
47
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). ( 7868135 )
1995
48
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
49
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. ( 7803301 )
1994
50
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

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
11.43 ANK1 SPTA1 SPTB
2 10.61 ANK1 SPTA1 SPTB
3 10.08 ADD1 ADD2 ADD3

GO Terms for Hereditary Elliptocytosis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.7 ADD1 ADD2 ADD3 ANK1 EPB41 SPTA1
2 postsynaptic density GO:0014069 9.61 ADD2 ADD3 EPB41
3 cell cortex GO:0005938 9.56 ADD3 EPB41 SPTA1 SPTB
4 cytoplasmic side of plasma membrane GO:0009898 9.46 EPB41 SPTA1
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.4 SPTA1 SPTB
6 F-actin capping protein complex GO:0008290 9.37 ADD1 ADD2
7 spectrin GO:0008091 9.32 SPTA1 SPTB
8 cortical cytoskeleton GO:0030863 9.26 EPB41 GYPC SLC4A1 SPTA1
9 spectrin-associated cytoskeleton GO:0014731 8.92 ANK1 EPB41 SPTA1 SPTB
10 plasma membrane GO:0005886 10.04 ADD1 ADD2 ADD3 ANK1 EPB41 GYPC
11 cytosol GO:0005829 10.02 ADD1 ADD2 ADD3 ANK1 EPB41 SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.54 ANK1 SPTA1 SPTB
2 cytoskeleton organization GO:0007010 9.5 ADD3 ANK1 SPTB
3 hemopoiesis GO:0030097 9.43 ADD2 SPTA1
4 actin filament bundle assembly GO:0051017 9.4 ADD1 ADD2
5 actin filament capping GO:0051693 9.26 SPTA1 SPTB
6 actin cytoskeleton organization GO:0030036 9.26 ADD1 ADD2 EPB41 SPTA1
7 barbed-end actin filament capping GO:0051016 9.16 ADD1 ADD2
8 positive regulation of protein binding GO:0032092 8.92 ADD1 ADD2 EPB41 SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.73 ADD1 ADD2 GYPC SLC4A1
2 calmodulin binding GO:0005516 9.67 ADD1 ADD2 ADD3 EPB41
3 structural molecule activity GO:0005198 9.65 ADD1 ADD2 ADD3 ANK1 EPB41
4 actin binding GO:0003779 9.63 ADD1 ADD2 ADD3 EPB41 SPTA1 SPTB
5 actin filament binding GO:0051015 9.62 ADD1 ADD2 SPTA1 SPTB
6 ankyrin binding GO:0030506 9.4 SLC4A1 SPTB
7 structural constituent of cytoskeleton GO:0005200 9.35 ADD3 ANK1 EPB41 SPTA1 SPTB
8 spectrin binding GO:0030507 8.92 ADD1 ADD2 ANK1 EPB41

Sources for Hereditary Elliptocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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