Dehydrated hereditary stomatocytosis
ORPHA:3202DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC4A1 | solute carrier family 4 member 1 (Diego blood group) | Disease-causing germline mutation(s) in | gene with protein product | 109270 |
| PIEZO1 | piezo type mechanosensitive ion channel component 1 (Er blood group) | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 611184 |
| KCNN4 | potassium calcium-activated channel subfamily N member 4 | Disease-causing germline mutation(s) in | gene with protein product | 602754 |
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0001878Hemolytic anemia
HP:0001930Nonspherocytic hemolytic anemia
HP:0005502Increased red cell osmotic fragility
Частый (30–79%)10
HP:0001081Cholelithiasis
HP:0001744Splenomegaly
HP:0001923Reticulocytosis
HP:0001972Macrocytic anemia
HP:0001981Schistocytosis
HP:0003281Increased circulating ferritin concentration
HP:0003573Increased total bilirubin
HP:0011042Abnormality of potassium homeostasis
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0032231Hypochromia
Периодический (5–29%)11
HP:0000969Edema
HP:0001046Intermittent jaundice
HP:0001907Thromboembolism
HP:0002027Abdominal pain
HP:0003265Neonatal hyperbilirubinemia
HP:0004804Congenital hemolytic anemia
HP:0005518Increased mean corpuscular volume
HP:0010972Anemia of inadequate production
HP:0012431Episodic fatigue
HP:0025548Increased mean corpuscular hemoglobin concentration
HP:0001900Increased circulating hemoglobin concentration
Очень редкий (1–4%)3
HP:0001901Polycythemia
HP:0030242Portal vein thrombosis
HP:0030950Pulmonary venous hypertension
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 20 | Worldwide | Family(ies) |
| Point prevalence | 1-5 / 10 000 | 0.7 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 0.1 | North America | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)