ORPHA:3203
Overhydrated hereditary stomatocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of red blood cell membrane permeability to monovalent cations characterized clinically by hemolytic anemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Overhydrated hereditary stomatocytosis | |
| fr | Stomatocytose héréditaire avec hématies hyperhydratées | Stomatocytose familiale avec hématies hyperhydratées |
| de | Überhydrierte hereditäre Stomatozytose | OHS (Overhydrated Hereditary Stomatocytosis) |
| es | Estomatocitosis hereditaria con hematíes hiperhidratados | |
| it | Stomatocitosi ereditaria con emazie iperidratate | |
| nl | Overgehydrateerde erfelijke stomatocytose | |
| pt | Estomatocitose hereditária hiper-hidratada | |
| pl | Dziedziczna uwodniona stomatocytoza | |
| cs | Hyperhydratovaná hereditární stomatocytóza | |
| uk | Спадковий стоматоцитоз з гіпергідратацією | |
| zh | 遗传性口形红细胞增多症 | |
| tr | Aşırı hidrate kalıtsal stomatositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185000 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0008493 | E | validated | |
| UMLS | C1861455 | E | validated | |
| GARD | 4183 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RHAG | Disease-causing germline mutation(s) in | Assessed | HGNC:10006 | ENSG00000112077 | 180297 | 6p12.3 | Rh associated glycoprotein | 23664421[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
11 annotations · validated 2019-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025065 | Abnormal mean corpuscular volume | |
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration | |
| HP:0001878 | Hemolytic anemia | |
| HP:0005502 | Increased red cell osmotic fragility | |
| HP:0001923 | Reticulocytosis | |
| HP:0004446 | Stomatocytosis | |
| Occasional (29-5%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0011273 | Anisocytosis | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001046 | Intermittent jaundice | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29559519[PMID]_15180870[PMID]_31364155[PMID]_21859730[PMID]_28447420[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3203
- This record as JSON: /data/d/3203.json