ORPHA:398088
Hereditary cryohydrocytosis with normal stomatin
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary cryohydrocytosis with normal stomatin | |
| fr | Cryohydrocytose héréditaire avec stomatine normale | |
| de | Kryohydrozytose mit normalem Stomatin, hereditäre Form | |
| es | Criohidrocitosis hereditaria con estomatina normal | |
| it | Crioidrocitosi ereditaria con normale stomatina | |
| nl | Hereditaire cryohydrocytose met normaal stomatine | Erfelijke cryohydrocytose met normaal stomatine |
| pt | Criohidrocitose hereditária com estromatina normal | |
| pl | Dziedziczna kriohydrocytoza z prawidłową stomatyną | |
| cs | Hereditární kryohydrocytóza s normálním stomatinem | |
| uk | Спадковий кріогідроцитоз з нормальним стоматином | |
| zh | 遗传性冷冻cryohydrocytosis伴正常口型红细胞 | |
| tr | Normal stomatin ile seyreden kalıtsal kriyohidrositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185020 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10 | NTBT | attributed | validated |
| MONDO | 0008494 | E | validated | |
| UMLS | C4750907 | E | validated | |
| GARD | 10184 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases
No children.
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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) | 16227998[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | 16227998[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16227998[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398088
- This record as JSON: /data/d/398088.json