Unstable beta globin chain variant disease
ORPHA:231226DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)2
HP:0011904Persistence of hemoglobin F
HP:0011905Reduced hemoglobin A
Частый (30–79%)7
HP:0000980Pallor
HP:0001971Hypersplenism
HP:0001978Extramedullary hematopoiesis
HP:0004840Hypochromic microcytic anemia
HP:0011273Anisocytosis
HP:0025066Decreased mean corpuscular volume
HP:0025547Decreased mean corpuscular hemoglobin concentration
Периодический (5–29%)30
HP:0000164Abnormality of the dentition
HP:0000737Irritability
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0000829Hypoparathyroidism
HP:0000939Osteoporosis
HP:0000952Jaundice
HP:0000953Hyperpigmentation of the skin
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001433Hepatosplenomegaly
HP:0001510Growth delay
HP:0001531Failure to thrive in infancy
HP:0001744Splenomegaly
HP:0001954Recurrent fever
HP:0002014Diarrhea
HP:0002094Dyspnea
HP:0002829Arthralgia
HP:0002857Genu valgum
HP:0004936Venous thrombosis
HP:0006487Bowing of the long bones
HP:0009004Hypoplasia of the musculature
HP:0011031Abnormality of iron homeostasis
HP:0011842Abnormality of skeletal morphology
HP:0011968Feeding difficulties
HP:0031035Chronic infection
HP:0040075Hypopituitarism
HP:0200042Skin ulcer
HP:0200123Chronic hepatitis
Очень редкий (1–4%)10
HP:0000582Upslanted palpebral fissure
HP:0000846Adrenal insufficiency
HP:0001402Hepatocellular carcinoma
HP:0001644Dilated cardiomyopathy
HP:0001722High-output congestive heart failure
HP:0002007Frontal bossing
HP:0005280Depressed nasal bridge
HP:0010620Malar prominence
HP:0011675Arrhythmia
HP:0430028Hyperplasia of the maxilla
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)