SAO
MCID: OVL001
MIFTS: 35

Ovalocytosis, Southeast Asian (SAO)

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Ovalocytosis, Southeast Asian

MalaCards integrated aliases for Ovalocytosis, Southeast Asian:

Name: Ovalocytosis, Southeast Asian 57 73 71
Southeast Asian Ovalocytosis 58 28 5 75
Elliptocytosis 4 57 73 71
Sao 57 58 73
Ovalocytosis, Malaysian-Melanesian-Filipino Type 57 73
Elliptocytosis, Stomatocytic Hereditary 57 73
Ovalocytosis, Sa Type 57 73
He, Stomatocytic 57 73
El4 57 73
Stomatocytic Elliptocytosis 58
Elliptocytosis, Hereditary 71
Melanesian Elliptocytosis 58
Hereditary Ovalocytosis 58
Melanesian Ovalocytosis 58

Characteristics:


Inheritance:

Ovalocytosis, Southeast Asian: Autosomal dominant 57
Southeast Asian Ovalocytosis: Autosomal dominant 58

Age Of Onset:

Southeast Asian Ovalocytosis: All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 166900
MeSH 43 D004612
ICD10 via Orphanet 32 D58.1
Orphanet 58 ORPHA98868
UMLS 71 C0013902 C1862323 C1862324

Summaries for Ovalocytosis, Southeast Asian

OMIM®: 57 Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993). (166900) (Updated 08-Dec-2022)

MalaCards based summary: Ovalocytosis, Southeast Asian, also known as southeast asian ovalocytosis, is related to spotted fever and richieri-costa/guion-almeida syndrome. An important gene associated with Ovalocytosis, Southeast Asian is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are hemolytic anemia and elliptocytosis

UniProtKB/Swiss-Prot: 73 A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.

Orphanet: 58 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.

Wikipedia: 75 Southeast Asian ovalocytosis is a blood disorder that is similar to, but distinct from hereditary... more...

Related Diseases for Ovalocytosis, Southeast Asian

Diseases related to Ovalocytosis, Southeast Asian via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 363)
# Related Disease Score Top Affiliating Genes
1 spotted fever 11.1
2 richieri-costa/guion-almeida syndrome 11.1
3 rocky mountain spotted fever 11.1
4 brazilian hemorrhagic fever 11.0
5 thymoma 10.7
6 renal tubular acidosis 10.6
7 distal renal tubular acidosis 10.6
8 thalassemia 10.4
9 plasmodium vivax malaria 10.4
10 bilirubin metabolic disorder 10.4
11 lymphoma 10.3
12 human immunodeficiency virus type 1 10.3
13 burkitt lymphoma 10.3
14 endosteal hyperostosis, autosomal dominant 10.3
15 metabolic acidosis 10.3
16 neonatal anemia 10.3
17 neonatal jaundice 10.3
18 hypokalemia 10.3
19 syphilis 10.2
20 pertussis 10.2
21 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
22 chagas disease 10.2
23 dengue disease 10.2
24 schistosomiasis 10.2
25 acquired immunodeficiency syndrome 10.2
26 severe acute respiratory syndrome 10.2
27 leishmaniasis 10.2
28 toxoplasmosis 10.2
29 yellow fever 10.1
30 pyropoikilocytosis, hereditary 10.1
31 ataxia with vitamin e deficiency 10.1
32 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 10.1
33 alpha-thalassemia 10.1
34 beta-thalassemia 10.1
35 helix syndrome 10.1
36 scoliosis 10.1
37 bone disease 10.1
38 osteomalacia 10.1
39 secondary hyperparathyroidism 10.1
40 nephrocalcinosis 10.1
41 hyperparathyroidism 10.1
42 blood group incompatibility 10.1
43 hemoglobin e disease 10.1
44 hemolytic anemia 10.1
45 chronic kidney disease 10.1
46 congenital syphilis 10.1
47 posttransplant acute limbic encephalitis 10.1
48 periodic paralysis 10.1
49 chronic bilirubin encephalopathy 10.1
50 mastocytosis, cutaneous 10.1

Graphical network of the top 20 diseases related to Ovalocytosis, Southeast Asian:



Diseases related to Ovalocytosis, Southeast Asian

Symptoms & Phenotypes for Ovalocytosis, Southeast Asian

Human phenotypes related to Ovalocytosis, Southeast Asian:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 30 HP:0001878
2 elliptocytosis 30 HP:0004445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Heme:
hemolytic anemia
ovalocytosis

Clinical features from OMIM®:

166900 (Updated 08-Dec-2022)

Drugs & Therapeutics for Ovalocytosis, Southeast Asian

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 Ovalocytosis, Southeast Asian

Genetic Tests for Ovalocytosis, Southeast Asian

Genetic tests related to Ovalocytosis, Southeast Asian:

# Genetic test Affiliating Genes
1 Southeast Asian Ovalocytosis 28 SLC4A1

Anatomical Context for Ovalocytosis, Southeast Asian

Organs/tissues related to Ovalocytosis, Southeast Asian:

MalaCards : Bone Marrow, Bone, Kidney, Neutrophil
ODiseA: Blood And Bone Marrow

Publications for Ovalocytosis, Southeast Asian

Articles related to Ovalocytosis, Southeast Asian:

(show top 50) (show all 162)
# Title Authors PMID Year
1
The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal. 62 57 5
7949112 1994
2
Molecular defect of the band 3 protein in southeast Asian ovalocytosis. 62 57 5
2146504 1990
3
Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. 62 5
19229254 2009
4
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. 62 5
14618420 2003
5
Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. 62 5
10403343 1999
6
Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia. 62 57
8608262 1996
7
Southeast Asian ovalocytosis in an African-American family. 62 5
7919393 1994
8
Hereditary ovalocytosis with compensated haemolysis. 62 57
8251392 1993
9
Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. 62 5
1737855 1992
10
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. 62 57
1722314 1991
11
Human erythrocyte Band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis. 62 57
2268683 1990
12
Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro. 62 57
6338046 1983
13
The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families. 62 57
7173868 1982
14
Hereditary ovalocytosis and splenic rupture. 62 57
6774560 1980
15
Malaria and hereditary ovalocytosis. 62 57
328370 1977
16
Selective depression of blood group antigens associated with hereditary ovalocytosis among melanesians. 62 57
403680 1977
17
Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak. 62 57
1184011 1975
18
The expression of the abnormal human red cell anion transporter from South-East Asian ovalocytes (band 3 SAO) in Xenopus oocytes. 5
7689982 1993
19
Molecular and cellular biology of the erythrocyte anion exchanger (AE1). 5
8434259 1993
20
Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. 5
1378323 1992
21
Elliptocytosis, malaria, and fertility in Malaysia. 57
3235080 1988
22
Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture. 57
7029547 1981
23
The ovalocytosis polymorphism on the western border of Papua, New Guinea. 57
6972343 1981
24
Genetic factors and malaria in the Temuan. 57
817597 1976
25
Haemoglobin E-hereditary elliptocytosis in Malayan aborigines. 57
4625303 1972
26
The occurrence of weak I T red cell antigen among Melanesians. 57
4551826 1972
27
AUTOSOMAL DOMINANT HEMOLYTIC ANEMIA CHARACTERIZED BY OVALOCYTOSIS; A FAMILY STUDY OF SEVEN INVOLVED MEMBERS. 57
14314234 1965
28
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. 62
36320073 2022
29
Southeast Asian ovalocytosis. 62
35871012 2022
30
Southeast Asian ovalocytosis detected in a critical patient with COVID-19 pneumonia. 62
35580896 2022
31
Detection of Red Blood Cell Membrane Proteins in Myelodysplastic Syndromes Using Eosin-5-Maleimide (EMA) Staining by Flow Cytometry. 62
35323174 2022
32
Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes. 62
36250048 2022
33
Prevalence and aetiologies of anaemia among first trimester pregnant women in Sri Lanka; the need for revisiting the current control strategies. 62
34986796 2022
34
Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment. 62
34489542 2021
35
Homozygous Southeast Asian Ovalocytosis in five live-born neonates. 62
33179475 2021
36
Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses. 62
32815885 2021
37
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease. 62
32758154 2020
38
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. 62
32141208 2020
39
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. 62
32411010 2020
40
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. 62
32636758 2020
41
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. 62
31323480 2019
42
Advances in understanding the pathogenesis of red cell membrane disorders. 62
31364155 2019
43
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 62
30124986 2019
44
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? 62
29100683 2017
45
Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. 62
29043981 2017
46
Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading. 62
28024237 2017
47
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). 62
28068080 2017
48
Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears. 62
28057675 2017
49
Diffusion of glycophorin A in human erythrocytes. 62
27580023 2016
50
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. 62
27058983 2016

Variations for Ovalocytosis, Southeast Asian

ClinVar genetic disease variations for Ovalocytosis, Southeast Asian:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC4A1 NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) DEL Pathogenic
Pathogenic
17753 rs769664228 GRCh37: 17:42335411-42335437
GRCh38: 17:44258043-44258069
2 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic
17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708
3 SLC4A1 NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) SNV Likely Pathogenic
17771 rs121912751 GRCh37: 17:42328609-42328609
GRCh38: 17:44251241-44251241

Expression for Ovalocytosis, Southeast Asian

Search GEO for disease gene expression data for Ovalocytosis, Southeast Asian.

Pathways for Ovalocytosis, Southeast Asian

GO Terms for Ovalocytosis, Southeast Asian

Sources for Ovalocytosis, Southeast Asian

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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