ORPHA:3202
Dehydrated hereditary stomatocytosis
Synonyms: Hereditary xerocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration of variable degree, and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dehydrated hereditary stomatocytosis | Hereditary xerocytosis |
| fr | Stomatocytose héréditaire avec hématies déshydratées | Stomatocytose familiale avec hématies déshydratées · Xérocytose familiale · Xérocytose héréditaire |
| de | Dehydrierte hereditäre Stomatozytose | Xerozytose, hereditäre |
| es | Estomatocitosis hereditaria deshidratada | Xerocitosis hereditaria |
| it | Stomatocitosi ereditaria con emazie disidratate | Xerocitosi ereditaria |
| nl | Gedehydrateerde erfelijke stomatocytose | Erfelijke xerocytose |
| pt | Estomatocitose hereditária desidratada | |
| pl | Dziedziczna odwodniona stomatocytoza | Dziedziczna kserocytoza |
| cs | Dehydratovaná hereditární stomatocytóza | Hereditární xerocytóza |
| uk | Спадковий стоматоцитоз з дегідратацією | Спадковий ксероцитоз |
| zh | 脱水遗传性口形红细胞增多症 | 遗传性干燥细胞增多症 |
| tr | Dehidrate kalıtsal stomatositoz | Kalıtsal kserositoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194380 | BTNT | validated | |
| OMIM | 616689 | BTNT | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0017910 | E | validated | |
| MeSH | C536764 | E | validated | |
| UMLS | C0272051 | E | validated | |
| GARD | 5623 | E | validated | |
| MedDRA | 10089900 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:100039Familial pseudohyperkalemia type 1 moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:28993 | ENSG00000103335 | 611184 | 16q24.3 | piezo type mechanosensitive ion channel component 1 (Er blood group) | 22529292[PMID]_23695678[PMID] |
| KCNN4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6293 | ENSG00000104783 | 602754 | 19q13.31 | potassium calcium-activated channel subfamily N member 4 | 26148990[PMID]_26198474[PMID] |
| 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
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9718354[PMID]_11001917[PMID]_23479567[PMID] |
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | 9718354[PMID]_11001917[PMID]_23479567[PMID]_Pr Loïc GARÃON[EXPERT]_Dr Véronique PICARD[EXPERT] | |
| Point prevalence | 1-5 / 10 000 | 0.7 / 100 000 | Denmark | Value and class | Validated | 39400415[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 0.1 / 100 000 | North America | Value and class | Validated | 31308777[PMID]_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
27 annotations · validated 2019-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001878 | Hemolytic anemia | |
| HP:0005502 | Increased red cell osmotic fragility | |
| HP:0001930 | Nonspherocytic hemolytic anemia | |
| Frequent (79-30%) | ||
| HP:0011042 | Abnormality of potassium homeostasis | |
| HP:0001081 | Cholelithiasis | |
| HP:0032231 | Hypochromia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0003573 | Increased total bilirubin | |
| HP:0001972 | Macrocytic anemia | |
| HP:0001923 | Reticulocytosis | |
| HP:0001981 | Schistocytosis | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0010972 | Anemia of inadequate production | |
| HP:0004804 | Congenital hemolytic anemia | |
| HP:0000969 | Edema | |
| HP:0012431 | Episodic fatigue | |
| HP:0001900 | Increased circulating hemoglobin concentration | |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0001046 | Intermittent jaundice | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0001907 | Thromboembolism | |
| Very rare (<4-1%) | ||
| HP:0001901 | Polycythemia | |
| HP:0030242 | Portal vein thrombosis | |
| HP:0030950 | Pulmonary venous hypertension | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30187933[PMID]_30655378[PMID]_29210095[PMID]_21944700[PMID}
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3202
- This record as JSON: /data/d/3202.json