Majeed syndrome
ORPHA:77297DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)13
HP:0001824Weight loss
HP:0001945Fever
HP:0002653Bone pain
HP:0002754Osteomyelitis
HP:0002829Arthralgia
HP:0003025Metaphyseal irregularity
HP:0004326Cachexia
HP:0004810Congenital hypoplastic anemia
HP:0004840Hypochromic microcytic anemia
HP:0005561Abnormality of bone marrow cell morphology
HP:0012647Abnormal inflammatory response
HP:0200034Papule
HP:0200039Pustule
Частый (30–79%)10
HP:0000969Edema
HP:0001061Acne
HP:0001508Failure to thrive
HP:0001744Splenomegaly
HP:0001974Leukocytosis
HP:0002240Hepatomegaly
HP:0002315Headache
HP:0003326Myalgia
HP:0011001Increased bone mineral density
HP:0100769Synovitis
Периодический (5–29%)9
HP:0000093Proteinuria
HP:0001371Flexion contracture
HP:0002024Malabsorption
HP:0002113Pulmonary infiltrates
HP:0002659Increased susceptibility to fractures
HP:0002907Microscopic hematuria
HP:0011123Inflammatory abnormality of the skin
HP:0012735Cough
HP:0100820Glomerulopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)