Southeast Asian ovalocytosis
Synonyms: Hereditary ovalocytosis · Melanesian elliptocytosis · Melanesian ovalocytosis · SAO · Stomatocytic elliptocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Southeast Asian ovalocytosis | Hereditary ovalocytosis · Melanesian elliptocytosis · Melanesian ovalocytosis · SAO · Stomatocytic elliptocytosis |
| fr | Ovalocytose de l'Asie du Sud-Est | Elliptocytose mélanésienne · Elliptocytose stomatocytique · Ovalocytose mélanésienne |
| de | Ovalozytose, südostasiatische | Melanesische Ovalozytose · SAO · Stomatozytische hereditäre Elliptozytose · Südasiatische Elliptozytose |
| es | Ovalocitosis del sudeste asiático | Eliptocitosis estomatocítica · Eliptocitosis melanesia · Ovalocitosis hereditaria · Ovalocitosis melanesia · SAO |
| it | Ovalocitosi, tipo Sud-Est asiatico | Ellissocitosi melanesiana · Ellissocitosi stomatocitica · Ovalocitosi ereditaria · Ovalocitosi melanesiana · SAO |
| nl | Zuidoost-Aziatische ovalocytose | Erfelijke ovalocytose · Melanesische elliptocytose · Melanesische ovalycytose · SAO · Stomatocytische elliptocytose |
| pt | Ovalocitose do sudeste asiático | |
| pl | Owalocytoza południowoazjatycka | Eliptocytoza melanezyjska · Eliptocytoza stomatocytowa · Owalocytoza dziedziczna · Owalocytoza melanezyjska · SAO |
| cs | Jihovýchodoasijská ovalocytóza | Hereditární ovalocytóza · Melanézská eliptocytóza · Melanézská ovalocytóza · SAO · Stomatocytická eliptocytóza |
| uk | Овалоцитоз Південно-Східної Азії | Спадковий овалоцитоз · Меланезійський еліптоцитоз · Меланезійський овалоцитоз · САО · Стоматоцитарний еліптоцитоз |
| zh | 东南亚卵形红细胞增多症 | 口形红细胞椭圆形红细胞增多症 |
| tr | Güneydoğu Asya ovalositozu | SAO · Kalıtsal ovalositoz · Melanezyen ovalositoz · Melanezyen elliptositoz · Stomatositik elliptositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166900 | E | validated | |
| ICD-10 | D58.1 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0008165 | E | validated | |
| UMLS | C1862322 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11027 | ENSG00000004939 | 109270 | 17q21.31 | solute carrier family 4 member 1 (Diego blood group) | 23664421[PMID]_23339107[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2025-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001017 | Anemic pallor | |
| HP:0004445 | Elliptocytosis | |
| HP:0003546 | Exercise intolerance | |
| HP:0012378 | Fatigue | |
| HP:0001878 | Hemolytic anemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0000952 | Jaundice | |
| HP:0034609 | Polychromasia | |
| HP:0020181 | Reduced haptoglobin level | |
| HP:0001923 | Reticulocytosis | |
| HP:0001744 | Splenomegaly | |
| HP:0004446 | Stomatocytosis | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Occasional (29-5%) | ||
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0004444 | Spherocytosis | |
Annotation source: 32966004[PMID]_37966962[PMID]_32758154[PMID]_20421175[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98868
- This record as JSON: /data/d/98868.json