Details of Disease

General Information of Disease (ID: DISSANVQ)

Disease Name Southeast Asian ovalocytosis
Synonyms
ovalocytosis, hereditary hemolytic; elliptocytosis, stomatocytic hereditary; ovalocytosis, Malaysian-Melanesian-Filipino type; elliptocytosis 4; ovalocytosis, southeast Asian; he, stomatocytic; hereditary ovalocytosis; stomatocytic elliptocytosis; sao; Melanesian elliptocytosis; ovalocytosis, SA type; Melanesian ovalocytosis
Definition
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.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISA71F4: Hereditary elliptocytosis
DIS4TC4I: Hereditary stomatocytosis
DISSANVQ: Southeast Asian ovalocytosis
Disease Identifiers
MONDO ID
MONDO_0008165
MESH ID
C566231
UMLS CUI
C1862322
OMIM ID
166900
MedGen ID
350649
Orphanet ID
98868
SNOMED CT ID
723623002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CD58 TT5KSBY Definitive Biomarker [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A1 DTB0Q3P Strong Autosomal dominant [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GYPC OTOEDR7O Strong Biomarker [1]
OSGEP OT38HX9V Strong Biomarker [3]
SLC4A1 OT3EFUK8 Strong Autosomal dominant [2]
MCIDAS OTK1JVAH Definitive Genetic Variation [4]
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References

1 Membrane compartmentalization in Southeast Asian ovalocytosis red blood cells.Br J Haematol. 2011 Oct;155(1):111-21. doi: 10.1111/j.1365-2141.2011.08805.x. Epub 2011 Jul 27.
2 Structural and functional characterization of band 3 from Southeast Asian ovalocytes. J Biol Chem. 1992 Dec 25;267(36):25792-7.
3 Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.Biochem J. 2011 Jan 15;433(2):313-22. doi: 10.1042/BJ20101375.
4 Influence of glucose metabolism on cognitive function of patients with acute small-artery occlusion.J Biol Regul Homeost Agents. 2017 Jul-Sep;31(3):717-724.