MCID: HRD012
MIFTS: 43

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

Classifications:



External Ids:

Disease Ontology 12 DOID:2373
ICD10 33 D58.1
ICD9CM 35 282.1
MeSH 44 D004612
NCIt 50 C35882
SNOMED-CT 68 58864003
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 ADD1 ADD2 ADD3 ANK1 EPB41 SLC4A1
2 cardiovascular system MP:0005385 9.85 ADD2 ADD3 ANK1 SLC4A1 SPTA1 SPTB
3 homeostasis/metabolism MP:0005376 9.8 ADD1 ADD2 ANK1 EPB41 SLC4A1 SPTA1
4 immune system MP:0005387 9.63 ADD2 ANK1 EPB41 SLC4A1 SPTA1 SPTB
5 liver/biliary system MP:0005370 9.35 ADD2 ANK1 EPB41 SPTA1 SPTB
6 renal/urinary system MP:0005367 9.1 ADD2 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 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 192)
# 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
Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder. ( 30369757 )
2018
4
Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity. ( 30393954 )
2018
5
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122 )
2017
6
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
7
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. ( 26377499 )
2015
8
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. ( 26557672 )
2015
9
Erythrocyte deformability and hereditary elliptocytosis: A case report. ( 25261429 )
2014
10
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
11
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. ( 25332561 )
2014
12
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. ( 23974198 )
2013
13
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. ( 24003435 )
2013
14
Hereditary elliptocytosis. ( 23729040 )
2013
15
Transient aplastic crisis in hereditary elliptocytosis. ( 22294270 )
2012
16
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. ( 22807418 )
2012
17
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. ( 21858981 )
2011
18
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
19
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
20
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. ( 20339087 )
2010
21
Malaria and hereditary elliptocytosis. ( 17696197 )
2008
22
A case of hereditary elliptocytosis. ( 17984044 )
2007
23
Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. ( 12947004 )
2004
24
Hereditary elliptocytosis: spectrin and protein 4.1R. ( 15071791 )
2004
25
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. ( 15757247 )
2004
26
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. ( 16985305 )
2003
27
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
28
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. ( 17264559 )
2001
29
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. ( 11154235 )
2001
30
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. ( 10845937 )
2000
31
Presumed hereditary elliptocytosis in a dog. ( 10590790 )
1999
32
Hereditary elliptocytosis complicating pregnancy. ( 15512307 )
1999
33
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. ( 9746802 )
1998
34
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. ( 9882098 )
1998
35
Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. ( 9691144 )
1998
36
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. ( 9576854 )
1998
37
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587 )
1997
38
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. ( 9322591 )
1997
39
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. ( 9407765 )
1997
40
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. ( 9207403 )
1997
41
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
42
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. ( 8790144 )
1996
43
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921 )
1996
44
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. ( 8857939 )
1996
45
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. ( 8844207 )
1996
46
Hemolytic anemia precipitated by pregnancy in a patient with hereditary elliptocytosis. ( 8756106 )
1996
47
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. ( 8956043 )
1996
48
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. ( 9037349 )
1996
49
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). ( 7868135 )
1995
50
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

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 12)
# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.71 ADD1 ADD2 ADD3 EPB41
2 cytoskeleton GO:0005856 9.7 ADD1 ADD2 ADD3 ANK1 EPB41 SPTA1
3 cell cortex GO:0005938 9.62 ADD3 EPB41 SPTA1 SPTB
4 cytoplasmic side of plasma membrane GO:0009898 9.54 ANK1 EPB41 SPTA1
5 F-actin capping protein complex GO:0008290 9.48 ADD1 ADD2
6 spectrin GO:0008091 9.46 SPTA1 SPTB
7 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.43 SPTA1 SPTB
8 plasma membrane raft GO:0044853 9.43 ADD1 ADD2 ADD3
9 cortical cytoskeleton GO:0030863 9.26 EPB41 GYPC SLC4A1 SPTA1
10 spectrin-associated cytoskeleton GO:0014731 8.92 ANK1 EPB41 SPTA1 SPTB
11 cytosol GO:0005829 10.05 ADD1 ADD2 ADD3 ANK1 EPB41 SPTA1
12 plasma membrane GO:0005886 10.04 ADD1 ADD2 ADD3 ANK1 EPB41 GYPC

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 actin cytoskeleton organization GO:0030036 9.46 ADD1 ADD2 EPB41 SPTA1
3 actin filament bundle assembly GO:0051017 9.43 ADD1 ADD2 ADD3
4 hemopoiesis GO:0030097 9.4 ADD2 SPTA1
5 actin filament capping GO:0051693 9.32 SPTA1 SPTB
6 barbed-end actin filament capping GO:0051016 9.13 ADD1 ADD2 ADD3
7 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 structural molecule activity GO:0005198 9.72 ADD1 ADD2 ADD3 ANK1 EPB41
2 calmodulin binding GO:0005516 9.67 ADD1 ADD2 ADD3 EPB41
3 actin filament binding GO:0051015 9.65 ADD1 ADD2 ADD3 SPTA1 SPTB
4 actin binding GO:0003779 9.63 ADD1 ADD2 ADD3 EPB41 SPTA1 SPTB
5 ankyrin binding GO:0030506 9.4 SLC4A1 SPTB
6 structural constituent of cytoskeleton GO:0005200 9.35 ADD3 ANK1 EPB41 SPTA1 SPTB
7 spectrin binding GO:0030507 9.02 ADD1 ADD2 ADD3 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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