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EL3
MCID: ELL006
MIFTS: 36

Elliptocytosis 3 (EL3)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Elliptocytosis 3

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MalaCards integrated aliases for Elliptocytosis 3:

Name: Elliptocytosis 3 56 73 29 6 71
El3 56 73
Anemia, Neonatal Hemolytic, Fatal and Near-Fatal 29
Anemia, Neonatal Hemolytic, Fatal or Near-Fatal 56
Elliptocytosis Rhesus-Unlinked Type 73
Elliptocytosis, Hereditary 71
Elliptocytosis-3 56
Ovalocytosis 73

Characteristics:

HPO:

31
elliptocytosis 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 617948
MeSH 43 D004612
MedGen 41 C1866810
UMLS 71 C0013902 C1866810
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Summaries for Elliptocytosis 3

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OMIM : 56 Hereditary elliptocytosis-3 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)

MalaCards based summary : Elliptocytosis 3, also known as el3, is related to ovalocytosis, southeast asian and ovalocytosis, hereditary hemolytic, with defective erythropoiesis. An important gene associated with Elliptocytosis 3 is SPTB (Spectrin Beta, Erythrocytic). The drugs Iron and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and kidney, 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.

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Related Diseases for Elliptocytosis 3

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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 all 44)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 12.9
2 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 12.4
3 hereditary elliptocytosis 12.1
4 elliptocytosis 2 11.8
5 elliptocytosis 1 11.5
6 renal tubular acidosis, distal, autosomal dominant 11.3
7 malaria 10.6
8 renal tubular acidosis 10.6
9 distal renal tubular acidosis 10.5
10 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
11 deficiency anemia 10.5
12 hemolytic anemia 10.3
13 hypereosinophilic syndrome 10.3
14 helix syndrome 10.3
15 thalassemia 10.3
16 bilirubin metabolic disorder 10.3
17 glucosephosphate dehydrogenase deficiency 10.3
18 metabolic acidosis 10.2
19 hereditary spherocytosis 10.2
20 hypokalemia 10.2
21 endosteal hyperostosis, autosomal dominant 10.0
22 cryohydrocytosis 10.0
23 thymoma, familial 10.0
24 renal tubular acidosis, distal, with hemolytic anemia 10.0
25 beta-thalassemia 10.0
26 scoliosis 10.0
27 neonatal anemia 10.0
28 telangiectasis 10.0
29 plasmodium vivax malaria 10.0
30 plasmodium falciparum malaria 10.0
31 bardet-biedl syndrome 10.0
32 neonatal jaundice 10.0
33 thymoma 10.0
34 thymic carcinoma 10.0
35 syphilis 10.0
36 blood group incompatibility 10.0
37 hemoglobin e disease 10.0
38 kidney disease 10.0
39 nephrolithiasis 10.0
40 hypersplenism 10.0
41 congenital syphilis 10.0
42 posttransplant acute limbic encephalitis 10.0
43 periodic paralysis 10.0
44 hereditary stomatocytosis 10.0

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



Diseases related to Elliptocytosis 3
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Symptoms & Phenotypes for Elliptocytosis 3

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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
Sources

Drugs & Therapeutics for Elliptocytosis 3

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Drugs for Elliptocytosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
2
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
3 Trace Elements
4 Vitamins
5 Retinol palmitate
6 retinol
7 Nutrients
8 Micronutrients

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
2 Effects of Vitamin A Supplementation on Intestinal Parasitic Reinfections, Growth, Iron Status and Educational Achievement Among Orang Asli Schoolchildren in Pos Betau, Pahang, Malaysia Completed NCT00936091 vitamin A supplements;Placebo

Search NIH Clinical Center for Elliptocytosis 3

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Genetic Tests for Elliptocytosis 3

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Genetic tests related to Elliptocytosis 3:

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

Anatomical Context for Elliptocytosis 3

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MalaCards organs/tissues related to Elliptocytosis 3:

40
Testes, Heart, Kidney, Spleen
Sources

Publications for Elliptocytosis 3

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Articles related to Elliptocytosis 3:

(show top 50) (show all 251)
# Title Authors PMID Year
1
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. 6 56
9163587 1997
2
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. 56 6
9075575 1996
3
A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). 56 6
1391962 1992
4
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). 6 56
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 56
3580577 1987
6
Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia. 56
9005995 1997
7
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 56
7883966 1995
8
Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 6
8226774 1993
9
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
10
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. 6
2346784 1990
11
Interactions of spectrin in hereditary elliptocytes containing truncated spectrin beta-chains. 56
3276733 1988
12
A case of elliptocytosis associated with a truncated spectrin chain. 56
4052329 1985
13
Spectrin beta-chain variant associated with hereditary elliptocytosis. 56
7119110 1982
14
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. 56
7229027 1981
15
Combination of hereditary elliptocytosis and hereditary spherocytosis. 56
4426130 1974
16
Phenotypic diversity of human diseases resulting from allelic series. 56
4577464 1973
17
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. 61
32141208 2020
18
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients. 61
32154456 2020
19
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. 61
32411010 2020
20
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. 61
31323480 2019
21
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019
22
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 61
30124986 2019
23
Accurate light microscopic diagnosis of South-East Asian ovalocytosis. 61
30006977 2018
24
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. 61
29024480 2018
25
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. 61
30588151 2018
26
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells. 61
29713289 2018
27
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
28
Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. 61
29043981 2017
29
Plasmodium falciparum Exflagellation in a Patient With Ovalocytosis. 61
28755738 2017
30
Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading. 61
28024237 2017
31
Idiopathic myelofibrosis accompanied by peritoneal extramedullary hematopoiesis presenting as refractory ascites in a dog. 61
27874969 2017
32
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
33
Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears. 61
28057675 2017
34
Diffusion of glycophorin A in human erythrocytes. 61
27580023 2016
35
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. 61
27058983 2016
36
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. 61
26603718 2016
37
The evolutionary origins of Southeast Asian Ovalocytosis. 61
26047685 2015
38
[Band 3 deficiency as a cause of hereditary spherocytosis]. 61
26251147 2015
39
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
40
Epistasis and the sensitivity of phenotypic screens for beta thalassaemia. 61
25521998 2015
41
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. 61
26557672 2015
42
Biomechanical properties of red blood cells in health and disease towards microfluidics. 61
25332724 2014
43
Malaria parasites and red cell variants: when a house is not a home. 61
24675047 2014
44
Evaluation of red cell membrane cytoskeletal disorders using a flow cytometric method in South iran. 61
24764726 2014
45
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis. 61
24652967 2014
46
Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis. 61
23557097 2014
47
Structure, function, and trafficking of SLC4 and SLC26 anion transporters. 61
24745980 2014
48
A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia. 61
24964668 2014
49
[A melanesian smile…]. 61
24113444 2013
50
South-East Asian ovalocytosis. 61
23339107 2013
Sources

Variations for Elliptocytosis 3

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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>TSNV Pathogenic 12832 rs863223302 14:65234018-65234018 14:64767300-64767300
3 SPTB NM_001355436.2(SPTB):c.6133_6134GA[3] (p.Lys2046fs)short repeat Pathogenic 12833 rs863223303 14:65234463-65234464 14:64767745-64767746
4 SPTB NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)deletion Pathogenic 12834 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.6191G>C (p.Arg2064Pro)SNV Pathogenic 12840 rs121918650 14:65234409-65234409 14:64767691-64767691
7 SPTB NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)SNV Likely pathogenic 12837 rs121918648 14:65234545-65234545 14:64767827-64767827
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

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Expression for Elliptocytosis 3

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Search GEO for disease gene expression data for Elliptocytosis 3.
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Pathways for Elliptocytosis 3

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GO Terms for Elliptocytosis 3

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Sources for Elliptocytosis 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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