Langerhans cell histiocytosis
ORPHA:389DiseaseUnknownAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MAP2K1 | mitogen-activated protein kinase kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 176872 |
| NRAS | NRAS proto-oncogene, GTPase | Disease-causing somatic mutation(s) in | gene with protein product | 164790 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing somatic mutation(s) in | gene with protein product | 164757 |
Фенотипы (HPO)27
Очень частый (80–99%)2
HP:0002653Bone pain
HP:0002797Osteolysis
Частый (30–79%)7
HP:0000964Eczematoid dermatitis
HP:0000988Skin rash
HP:0001744Splenomegaly
HP:0001945Fever
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0012735Cough
Периодический (5–29%)15
HP:0000155Oral ulcer
HP:0000365Hearing impairment
HP:0000873Diabetes insipidus
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001510Growth delay
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0002108Spontaneous pneumothorax
HP:0003073Hypoalbuminemia
HP:0003249Genital ulcers
HP:0034323Reduced circulating growth hormone concentration
HP:0034769Pulmonary Langerhans cell histiocytosis
Очень редкий (1–4%)3
HP:0001399Hepatic failure
HP:0002093Respiratory insufficiency
HP:0030991Sclerosing cholangitis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)