Ovalocytosis, Southeast Asian disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Hereditary elliptocytosis

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

OMIM® ⁵⁷ 166900

MeSH ⁴³ D004612

ICD10 via Orphanet ³² D58.1

Orphanet ⁵⁸ ORPHA98868

MedGen ⁴⁰ C1833690 C1862322 C1862324 more

SNOMED-CT via HPO ⁶⁹ 178935009 191169008 250242004 more

UMLS ⁷¹ C0013902 C1862323 C1862324

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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...

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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
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:

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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)

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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

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Genetic Tests for Ovalocytosis, Southeast Asian

Genetic tests related to Ovalocytosis, Southeast Asian:

#	Genetic test	Affiliating Genes
1	Southeast Asian Ovalocytosis ²⁸	SLC4A1

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Anatomical Context for Ovalocytosis, Southeast Asian

Organs/tissues related to Ovalocytosis, Southeast Asian:

MalaCards : Bone Marrow, Bone, Kidney, Neutrophil

ODiseA: Blood And Bone Marrow

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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	Liu SC...Sapak P	7949112	1994
2	Molecular defect of the band 3 protein in southeast Asian ovalocytosis. ⁶² ⁵⁷ ⁵	Liu SC...Jarolim P	2146504	1990
3	Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. ⁶² ⁵	Wilder JA...Sudoyo H	19229254	2009
4	High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. ⁶² ⁵	Yusoff NM...Matsuo M	14618420	2003
5	Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. ⁶² ⁵	Allen SJ...Weatherall DJ	10403343	1999
6	Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia. ⁶² ⁵⁷	Coetzer TL...Daniels GL	8608262	1996
7	Southeast Asian ovalocytosis in an African-American family. ⁶² ⁵	Ravindranath Y...Johnson RM	7919393	1994
8	Hereditary ovalocytosis with compensated haemolysis. ⁶² ⁵⁷	Reardon DM...Tanner MJ	8251392	1993
9	Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. ⁶² ⁵	Mohandas N...Chasis J	1737855	1992
10	Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. ⁶² ⁵⁷	Jarolim P...Liu SC	1722314	1991
11	Human erythrocyte Band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis. ⁶² ⁵⁷	Jones GL...Saul A	2268683	1990
12	Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro. ⁶² ⁵⁷	Hadley T...Kidson C	6338046	1983
13	The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families. ⁶² ⁵⁷	Fix AG...Lie-Injo LE	7173868	1982
14	Hereditary ovalocytosis and splenic rupture. ⁶² ⁵⁷	Kjellman B...Tibblin E	6774560	1980
15	Malaria and hereditary ovalocytosis. ⁶² ⁵⁷	Serjeantson S...Babona D	328370	1977
16	Selective depression of blood group antigens associated with hereditary ovalocytosis among melanesians. ⁶² ⁵⁷	Booth PB...Amato D	403680	1977
17	Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak. ⁶² ⁵⁷	Ganesan J...Ong Beng P	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	Groves JD...Tanner MJ	7689982	1993
19	Molecular and cellular biology of the erythrocyte anion exchanger (AE1). ⁵	Tanner MJ	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	Jarolim P...Cohen CM	1378323	1992
21	Elliptocytosis, malaria, and fertility in Malaysia. ⁵⁷	Baer A	3235080	1988
22	Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture. ⁵⁷	Kidson C...Nurse GT	7029547	1981
23	The ovalocytosis polymorphism on the western border of Papua, New Guinea. ⁵⁷	Holt M...Nurse GT	6972343	1981
24	Genetic factors and malaria in the Temuan. ⁵⁷	Baer A...Lewis AN	817597	1976
25	Haemoglobin E-hereditary elliptocytosis in Malayan aborigines. ⁵⁷	Lie-Injo LE...Gilman RH	4625303	1972
26	The occurrence of weak I T red cell antigen among Melanesians. ⁵⁷	Booth PB	4551826	1972
27	AUTOSOMAL DOMINANT HEMOLYTIC ANEMIA CHARACTERIZED BY OVALOCYTOSIS; A FAMILY STUDY OF SEVEN INVOLVED MEMBERS. ⁵⁷	CUTTING HO...MARLOW AA	14314234	1965
28	Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. ⁶²	Deejai N...Rungroj N	36320073	2022
29	Southeast Asian ovalocytosis. ⁶²	Martinez Vazquez C...Del Orbe Barreto R	35871012	2022
30	Southeast Asian ovalocytosis detected in a critical patient with COVID-19 pneumonia. ⁶²	Moreno-Castano AB...Merino A	35580896	2022
31	Detection of Red Blood Cell Membrane Proteins in Myelodysplastic Syndromes Using Eosin-5-Maleimide (EMA) Staining by Flow Cytometry. ⁶²	Uman N...Polprasert C	35323174	2022
32	Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes. ⁶²	De Meulenaere K...Rosanas-Urgell A	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	Amarasinghe GS...Agampodi SB	34986796	2022
34	Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment. ⁶²	Chainarong N...Suwanrath C	34489542	2021
35	Homozygous Southeast Asian Ovalocytosis in five live-born neonates. ⁶²	Lavinya AA...Yusoff NM	33179475	2021
36	Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses. ⁶²	Yamsri S...Fucharoen S	32815885	2021
37	A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease. ⁶²	Gunaratne W...Siribaddana S	32758154	2020
38	A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. ⁶²	Martin JL...Goodman D	32141208	2020
39	Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. ⁶²	Flatt JF...Bruce LJ	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	Zaidi AU...Ravindranath Y	32636758	2020
41	Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. ⁶²	Prayongratana K...Viprakasit V	31323480	2019
42	Advances in understanding the pathogenesis of red cell membrane disorders. ⁶²	Iolascon A...Russo R	31364155	2019
43	Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. ⁶²	Deejai N...Rungroj N	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	Jajosky RP...Jajosky PG	29100683	2017
45	Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. ⁶²	Moulin PA...Baccini V	29043981	2017
46	Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading. ⁶²	Chen Y...Ang AL	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	Fowler PW...Reithmeier RA	28068080	2017
48	Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears. ⁶²	Moulin PA...Baccini V	28057675	2017
49	Diffusion of glycophorin A in human erythrocytes. ⁶²	Giger K...Low PS	27580023	2016
50	Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. ⁶²	Reithmeier RA...Iwata S	27058983	2016

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Genes for Ovalocytosis, Southeast Asian

Genes related to Ovalocytosis, Southeast Asian (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	1383.23	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	2146504 1378323 1737855 (more) 8434259 7919393 10403343 7689982 7949112 14618420 19229254 23664421 23339107

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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

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Expression for Ovalocytosis, Southeast Asian

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

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Pathways for Ovalocytosis, Southeast Asian

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GO Terms for Ovalocytosis, Southeast Asian

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Sources for Ovalocytosis, Southeast Asian

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

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¹⁵ DrugBank

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¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SAO MCID: OVL001 MIFTS: 35	Ovalocytosis, Southeast Asian (SAO) Categories: Blood diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Ovalocytosis, Southeast Asian (SAO)

Aliases & Classifications for Ovalocytosis, Southeast Asian

MalaCards integrated aliases for Ovalocytosis, Southeast Asian:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Ovalocytosis, Southeast Asian

Related Diseases for Ovalocytosis, Southeast Asian

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

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

Symptoms & Phenotypes for Ovalocytosis, Southeast Asian

Human phenotypes related to Ovalocytosis, Southeast Asian:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Ovalocytosis, Southeast Asian

Interventional clinical trials:

Genetic Tests for Ovalocytosis, Southeast Asian

Genetic tests related to Ovalocytosis, Southeast Asian:

Anatomical Context for Ovalocytosis, Southeast Asian

Organs/tissues related to Ovalocytosis, Southeast Asian:

Publications for Ovalocytosis, Southeast Asian

Articles related to Ovalocytosis, Southeast Asian:

Genes for Ovalocytosis, Southeast Asian

Genes related to Ovalocytosis, Southeast Asian (1 elite genes):

Variations for Ovalocytosis, Southeast Asian

ClinVar genetic disease variations for Ovalocytosis, Southeast Asian:

Expression for Ovalocytosis, Southeast Asian

Pathways for Ovalocytosis, Southeast Asian

GO Terms for Ovalocytosis, Southeast Asian

Sources for Ovalocytosis, Southeast Asian