EL3
MCID: ELL006
MIFTS: 34

Elliptocytosis 3 (EL3)

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

Aliases & Classifications for Elliptocytosis 3

MalaCards integrated aliases for Elliptocytosis 3:

Name: Elliptocytosis 3 57 73 29 6 71
El3 57 73
Anemia, Neonatal Hemolytic, Fatal and Near-Fatal 29
Anemia, Neonatal Hemolytic, Fatal or Near-Fatal 57
Elliptocytosis Rhesus-Unlinked Type 73
Elliptocytosis, Hereditary 71
Elliptocytosis, Type 3 39
Elliptocytosis-3 57
Ovalocytosis 73

Characteristics:

HPO:

31
elliptocytosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617948
MeSH 44 D004612
MedGen 41 C1866810
UMLS 71 C0013902 C1866810

Summaries for Elliptocytosis 3

OMIM® : 57 Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804). (617948) (Updated 05-Mar-2021)

MalaCards based summary : Elliptocytosis 3, also known as el3, is related to ovalocytosis, southeast asian and hereditary elliptocytosis. An important gene associated with Elliptocytosis 3 is SPTB (Spectrin Beta, Erythrocytic). Affiliated tissues include heart, kidney and bone, and related phenotypes are elliptocytosis and decreased mean corpuscular volume

UniProtKB/Swiss-Prot : 73 Elliptocytosis 3: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive.

Related Diseases for Elliptocytosis 3

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

Diseases related to Elliptocytosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 11.7
2 hereditary elliptocytosis 11.4
3 elliptocytosis 2 11.2
4 autosomal dominant distal renal tubular acidosis 11.0
5 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 11.0
6 elliptocytosis 1 11.0
7 renal tubular acidosis 10.4
8 distal renal tubular acidosis 10.3
9 malaria 10.3
10 deficiency anemia 10.2
11 helix syndrome 10.1
12 hemolytic anemia 10.1
13 hypereosinophilic syndrome 10.1
14 thalassemia 10.1
15 metabolic acidosis 10.0
16 bilirubin metabolic disorder 10.0
17 glucosephosphate dehydrogenase deficiency 10.0
18 hypokalemia 10.0
19 neonatal anemia 10.0
20 hereditary spherocytosis 10.0
21 plasmodium vivax malaria 10.0
22 pernicious anemia 9.8
23 renal tubular acidosis, distal, 1 9.8
24 cryohydrocytosis 9.8
25 thymoma, familial 9.8
26 renal tubular acidosis, distal, 4, with hemolytic anemia 9.8
27 beta-thalassemia 9.8
28 scoliosis 9.8
29 bone disease 9.8
30 osteomalacia 9.8
31 secondary hyperparathyroidism 9.8
32 nephrocalcinosis 9.8
33 telangiectasis 9.8
34 hyperparathyroidism 9.8
35 plasmodium falciparum malaria 9.8
36 bardet-biedl syndrome 9.8
37 neonatal jaundice 9.8
38 hemoglobinopathy 9.8
39 thymoma 9.8
40 thymic carcinoma 9.8
41 syphilis 9.8
42 blood group incompatibility 9.8
43 hemoglobin e disease 9.8
44 kidney disease 9.8
45 nephrolithiasis 9.8
46 hypersplenism 9.8
47 chronic kidney disease 9.8
48 congenital syphilis 9.8
49 autosomal recessive distal renal tubular acidosis 9.8
50 posttransplant acute limbic encephalitis 9.8

Graphical network of the top 20 diseases related to Elliptocytosis 3:



Diseases related to Elliptocytosis 3

Symptoms & Phenotypes for Elliptocytosis 3

Human phenotypes related to Elliptocytosis 3:

31
# Description HPO Frequency HPO Source Accession
1 elliptocytosis 31 very rare (1%) HP:0004445
2 decreased mean corpuscular volume 31 very rare (1%) HP:0025066
3 chronic hemolytic anemia 31 HP:0004870
4 intermittent jaundice 31 HP:0001046
5 pyropoikilocytosis 31 HP:0004839

Clinical features from OMIM®:

617948 (Updated 05-Mar-2021)

Drugs & Therapeutics for Elliptocytosis 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes Completed NCT00723567

Search NIH Clinical Center for Elliptocytosis 3

Genetic Tests for Elliptocytosis 3

Genetic tests related to Elliptocytosis 3:

# Genetic test Affiliating Genes
1 Elliptocytosis 3 29 SPTB
2 Anemia, Neonatal Hemolytic, Fatal and Near-Fatal 29

Anatomical Context for Elliptocytosis 3

MalaCards organs/tissues related to Elliptocytosis 3:

40
Heart, Kidney, Bone, Spleen

Publications for Elliptocytosis 3

Articles related to Elliptocytosis 3:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. 57 6
9163587 1997
2
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. 57 6
9075575 1996
3
A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). 6 57
1391962 1992
4
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). 6 57
2070088 1991
5
Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. 6 57
3580577 1987
6
Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia. 57
9005995 1997
7
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 57
7883966 1995
8
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. 6
2056132 1991
9
Interactions of spectrin in hereditary elliptocytes containing truncated spectrin beta-chains. 57
3276733 1988
10
A case of elliptocytosis associated with a truncated spectrin chain. 57
4052329 1985
11
Spectrin beta-chain variant associated with hereditary elliptocytosis. 57
7119110 1982
12
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. 57
7229027 1981
13
Combination of hereditary elliptocytosis and hereditary spherocytosis. 57
4426130 1974
14
Phenotypic diversity of human diseases resulting from allelic series. 57
4577464 1973
15
Homozygous Southeast Asian Ovalocytosis in five live-born neonates. 61
33179475 2020
16
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease. 61
32758154 2020
17
Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematological Analyses. 61
32815885 2020
18
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients. 61
32154456 2020
19
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. 61
32141208 2020
20
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. 61
32411010 2020
21
Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. 61
32636758 2020
22
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. 61
31323480 2019
23
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019
24
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 61
30124986 2019
25
Accurate light microscopic diagnosis of South-East Asian ovalocytosis. 61
30006977 2018
26
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. 61
29024480 2018
27
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells. 61
29713289 2018
28
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. 61
30588151 2018
29
Can exchange transfusions using red blood cells from donors with Southeast Asian ovalocytosis prevent or ameliorate cerebral malaria in patients with multi-drug resistant Plasmodium falciparum? 61
29100683 2017
30
Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. 61
29043981 2017
31
Plasmodium falciparum Exflagellation in a Patient With Ovalocytosis. 61
28755738 2017
32
Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading. 61
28024237 2017
33
Idiopathic myelofibrosis accompanied by peritoneal extramedullary hematopoiesis presenting as refractory ascites in a dog. 61
27874969 2017
34
Effect of the Southeast Asian Ovalocytosis Deletion on the Conformational Dynamics of Signal-Anchor Transmembrane Segment 1 of Red Cell Anion Exchanger 1 (AE1, Band 3, or SLC4A1). 61
28068080 2017
35
Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears. 61
28057675 2017
36
Diffusion of glycophorin A in human erythrocytes. 61
27580023 2016
37
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. 61
27058983 2016
38
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. 61
26603718 2016
39
The evolutionary origins of Southeast Asian Ovalocytosis. 61
26047685 2015
40
[Band 3 deficiency as a cause of hereditary spherocytosis]. 61
26251147 2015
41
Risk factors for malaria and adverse birth outcomes in a prospective cohort of pregnant women resident in a high malaria transmission area of Papua New Guinea. 61
25758854 2015
42
Epistasis and the sensitivity of phenotypic screens for beta thalassaemia. 61
25521998 2015
43
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. 61
26557672 2015
44
Biomechanical properties of red blood cells in health and disease towards microfluidics. 61
25332724 2014
45
Malaria parasites and red cell variants: when a house is not a home. 61
24675047 2014
46
Evaluation of red cell membrane cytoskeletal disorders using a flow cytometric method in South iran. 61
24764726 2014
47
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis. 61
24652967 2014
48
Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis. 61
23557097 2014
49
A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia. 61
24964668 2014
50
Structure, function, and trafficking of SLC4 and SLC26 anion transporters. 61
24745980 2014

Variations for Elliptocytosis 3

ClinVar genetic disease variations for Elliptocytosis 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTB NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) SNV Pathogenic 12831 rs121918645 14:65234443-65234443 14:64767725-64767725
2 SPTB NM_001355436.2(SPTB):c.6269+3G>T SNV Pathogenic 12832 rs863223302 14:65234018-65234018 14:64767300-64767300
3 SPTB NM_001355436.2(SPTB):c.6133_6134GA[3] (p.Lys2046fs) Microsatellite Pathogenic 12833 rs863223303 14:65234463-65234464 14:64767745-64767746
4 SPTB NM_001355436.2(SPTB):c.6177del (p.Ser2060fs) Deletion Pathogenic 12834 rs1594753904 14:65234423-65234423 14:64767705-64767705
5 SPTB NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) SNV Pathogenic 12836 rs121918647 14:65234547-65234547 14:64767829-64767829
6 SPTB NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) SNV Pathogenic 12837 rs121918648 14:65234545-65234545 14:64767827-64767827
7 SPTB NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) SNV Pathogenic 12840 rs121918650 14:65234409-65234409 14:64767691-64767691
8 SPTB NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) SNV Uncertain significance 869462 14:65234559-65234559 14:64767841-64767841

UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis 3:

73
# Symbol AA change Variation ID SNP ID
1 SPTB p.Ala2018Gly VAR_001357 rs121918647
2 SPTB p.Ser2019Pro VAR_001358 rs121918648
3 SPTB p.Ala2023Val VAR_001359 rs367841692
4 SPTB p.Trp2024Arg VAR_001360 rs122553965
5 SPTB p.Leu2025Arg VAR_001361 rs121918649
6 SPTB p.Ala2053Pro VAR_001362 rs121918645

Expression for Elliptocytosis 3

Search GEO for disease gene expression data for Elliptocytosis 3.

Pathways for Elliptocytosis 3

GO Terms for Elliptocytosis 3

Sources for Elliptocytosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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