Hereditary spherocytosis
ORPHA:822DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены5
| 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 |
| SPTA1 | spectrin alpha, erythrocytic 1 | Disease-causing germline mutation(s) in | gene with protein product | 182860 |
| SPTB | spectrin beta, erythrocytic | Disease-causing germline mutation(s) in | gene with protein product | 182870 |
| ANK1 | ankyrin 1 | Disease-causing germline mutation(s) in | gene with protein product | 612641 |
| EPB42 | erythrocyte membrane protein band 4.2 | Disease-causing germline mutation(s) in | gene with protein product | 177070 |
Фенотипы (HPO)27
Очень частый (80–99%)1
HP:0005502Increased red cell osmotic fragility
Частый (30–79%)14
HP:0000952Jaundice
HP:0000980Pallor
HP:0001081Cholelithiasis
HP:0001324Muscle weakness
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0001923Reticulocytosis
HP:0002240Hepatomegaly
HP:0002904Hyperbilirubinemia
HP:0004444Spherocytosis
HP:0005525Spontaneous hemolytic crises
HP:0011900Hypofibrinogenemia
HP:0025548Increased mean corpuscular hemoglobin concentration
HP:0100724Hypercoagulability
Периодический (5–29%)8
HP:0001251Ataxia
HP:0001723Restrictive cardiomyopathy
HP:0001945Fever
HP:0001978Extramedullary hematopoiesis
HP:0002027Abdominal pain
HP:0003326Myalgia
HP:0025143Chills
HP:0040186Maculopapular exanthema
Очень редкий (1–4%)4
HP:0001510Growth delay
HP:0001997Gout
HP:0003270Abdominal distention
HP:0200042Skin ulcer
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 50 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 20 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)