MCID: OVL001
MIFTS: 30

Ovalocytosis, Southeast Asian

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Ovalocytosis, Southeast Asian

MalaCards integrated aliases for Ovalocytosis, Southeast Asian:

Name: Ovalocytosis, Southeast Asian 57 75 29 73
Elliptocytosis 4 57 75 29 73
Ovalocytosis, Malaysian-Melanesian-Filipino Type 57 75 29
Sao 57 59 75
Elliptocytosis, Stomatocytic Hereditary 57 75
Southeast Asian Ovalocytosis 59 37
Ovalocytosis, Sa Type 57 75
He, Stomatocytic 57 75
El4 57 75
Stomatocytic Elliptocytosis, Hereditary 6
Stomatocytic Elliptocytosis 59
Elliptocytosis, Hereditary 73
Melanesian Elliptocytosis 59
Hereditary Ovalocytosis 59
Melanesian Ovalocytosis 59
Elliptocytosis 4; El4 57

Characteristics:

Orphanet epidemiological data:

59
southeast asian ovalocytosis
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ovalocytosis, southeast asian:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166900
Orphanet 59 ORPHA98868
ICD10 via Orphanet 34 D58.1
MeSH 44 D004612
KEGG 37 H01720

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)

MalaCards based summary : Ovalocytosis, Southeast Asian, also known as elliptocytosis 4, is related to renal tubular acidosis, distal, autosomal dominant 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 kidney, and related phenotypes are hemolytic anemia and elliptocytosis

UniProtKB/Swiss-Prot : 75 Ovalocytosis, Southeast Asian: 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.

Wikipedia : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal dominant 11.3
2 richieri-costa/guion-almeida syndrome 11.1
3 rocky mountain spotted fever 11.1
4 renal tubular acidosis 10.5
5 renal tubular acidosis, distal 10.5
6 lymphoma 10.4
7 thymoma 10.3
8 malaria 10.2
9 thalassemia 10.0
10 neonatal anemia 10.0
11 plasmodium vivax malaria 10.0
12 retinitis 10.0
13 aging 10.0
14 leptospirosis 9.9
15 thyroiditis 9.9
16 hereditary spherocytosis 9.9
17 hereditary elliptocytosis 9.9
18 hypersplenism 9.9
19 syphilis 9.8
20 myelopathy, htlv-1-associated 9.7
21 cystic fibrosis 9.7
22 human herpesvirus 8 9.7
23 hepatitis 9.7
24 tungiasis 9.7
25 infective endocarditis 9.7
26 endocarditis 9.7
27 acute hemorrhagic conjunctivitis 9.7
28 rabies 9.7
29 heart disease 9.7
30 aseptic meningitis 9.7
31 dementia 9.7
32 thyroid cancer 9.7
33 impotence 9.7
34 melanoma 9.7
35 tropical spastic paraparesis 9.7
36 hepatitis e 9.7
37 conjunctivitis 9.7
38 hyperthyroidism 9.7
39 periodontitis 9.7
40 dermatophytosis 9.7
41 skin melanoma 9.7
42 leishmaniasis 9.7
43 visceral leishmaniasis 9.7
44 intracranial hypertension 9.7
45 bacterial meningitis 9.7
46 meningitis 9.7
47 toxoplasmosis 9.7
48 oral cancer 9.7
49 spastic paraparesis 9.7
50 spasticity 9.7

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



Diseases related to Ovalocytosis, Southeast Asian

Symptoms & Phenotypes for Ovalocytosis, Southeast Asian

Symptoms via clinical synopsis from OMIM:

57
Heme:
ovalocytosis
hemolytic anemia


Clinical features from OMIM:

166900

Human phenotypes related to Ovalocytosis, Southeast Asian:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 elliptocytosis 32 HP:0004445

Drugs & Therapeutics for Ovalocytosis, Southeast Asian

Search Clinical Trials , 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 Ovalocytosis, Malaysian-Melanesian-Filipino Type 29
2 Ovalocytosis, Southeast Asian 29 SLC4A1
3 Elliptocytosis 4 29

Anatomical Context for Ovalocytosis, Southeast Asian

MalaCards organs/tissues related to Ovalocytosis, Southeast Asian:

41
Kidney

Publications for Ovalocytosis, Southeast Asian

Articles related to Ovalocytosis, Southeast Asian:

(show all 26)
# Title Authors Year
1
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). ( 28068080 )
2017
2
The evolutionary origins of Southeast Asian Ovalocytosis. ( 26047685 )
2015
3
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis. ( 24652967 )
2014
4
Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis. ( 23557097 )
2013
5
Reduced risk of Plasmodium vivax malaria in Papua New Guinean children with Southeast Asian ovalocytosis in two cohorts and a case-control study. ( 22973182 )
2012
6
Southeast Asian ovalocytosis is associated with increased expression of Duffy antigen receptor for chemokines (DARC). ( 19927622 )
2009
7
Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. ( 19229254 )
2009
8
Southeast Asian ovalocytosis and a sickle cell trait in a young patient with sudden retinal stroke: a fortuitous association? ( 19958192 )
2009
9
The mutant erythrocyte band 3 protein in Southeast Asian ovalocytosis does not bind eosin-5-maleimide. ( 19230205 )
2009
10
A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis. ( 19391452 )
2009
11
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. ( 17941824 )
2008
12
Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis. ( 17027918 )
2006
13
Neonatal anemia associated with Southeast Asian ovalocytosis. ( 16207591 )
2005
14
Membrane integration and topology of the first transmembrane segment in normal and Southeast Asian ovalocytosis human erythrocyte anion exchanger 1. ( 16096263 )
2005
15
Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins. ( 16107207 )
2005
16
Glucose-6-phosphate dehydrogenase deficiency and Southeast Asian ovalocytosis in asymptomatic Plasmodium carriers in Sumba island, Indonesia. ( 16059744 )
2005
17
Molecular demonstration of SLC4A1 gene deletion in two Mexican patients with Southeast Asian ovalocytosis. ( 16392641 )
2005
18
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. ( 14618420 )
2003
19
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. ( 12081559 )
2002
20
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. ( 10352205 )
1999
21
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. ( 10571775 )
1999
22
Twenty-seven base pair deletion in erythrocyte band 3 protein gene responsible for Southeast Asian ovalocytosis is not common among Southeast Asians. ( 9825591 )
1998
23
Secondary structures of synthetic peptides corresponding to the first membrane-contact portion of normal band 3 and its deletion mutant (Southeast Asian ovalocytosis). ( 9722659 )
1998
24
Southeast Asian ovalocytosis in an African-American family. ( 7919393 )
1994
25
The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal. ( 7949112 )
1994
26
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. ( 1722314 )
1991

Variations for Ovalocytosis, Southeast Asian

ClinVar genetic disease variations for Ovalocytosis, Southeast Asian:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A1 NM_000342.3(SLC4A1): c.1199_1225del27 (p.Ala400_Ala408del) deletion Pathogenic,protective rs769664228 GRCh38 Chromosome 17, 44258043: 44258069
2 SLC4A1 NM_000342.3(SLC4A1): c.1199_1225del27 (p.Ala400_Ala408del) deletion Pathogenic,protective rs769664228 GRCh37 Chromosome 17, 42335411: 42335437

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

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
Content
Loading form....