Hereditary elliptocytosis
ORPHA:288DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| EPB41 | erythrocyte membrane protein band 4.1 | Disease-causing germline mutation(s) in | gene with protein product | 130500 |
| GYPC | glycophorin C (Gerbich blood group) | Disease-causing germline mutation(s) in | gene with protein product | 110750 |
Фенотипы (HPO)23
Облигатный (100%)1
HP:0001877Abnormal erythrocyte morphology
Частый (30–79%)2
HP:0004445Elliptocytosis
HP:0005502Increased red cell osmotic fragility
Периодический (5–29%)13
HP:0000952Jaundice
HP:0001744Splenomegaly
HP:0001878Hemolytic anemia
HP:0001923Reticulocytosis
HP:0002904Hyperbilirubinemia
HP:0003265Neonatal hyperbilirubinemia
HP:0003546Exercise intolerance
HP:0004446Stomatocytosis
HP:0004447Poikilocytosis
HP:0004804Congenital hemolytic anemia
HP:0006579Prolonged neonatal jaundice
HP:0012378Fatigue
HP:0200042Skin ulcer
Очень редкий (1–4%)7
HP:0001081Cholelithiasis
HP:0001789Hydrops fetalis
HP:0001945Fever
HP:0002007Frontal bossing
HP:0002027Abdominal pain
HP:0008897Postnatal growth retardation
HP:0025143Chills
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)