Cushing disease
ORPHA:96253DiseaseNot applicableAdult
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CDH23 | cadherin related 23 | Major susceptibility factor in | gene with protein product | 605516 |
| USP48 | ubiquitin specific peptidase 48 | Disease-causing somatic mutation(s) in | gene with protein product | 617445 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing somatic mutation(s) in | gene with protein product | 164757 |
| USP8 | ubiquitin specific peptidase 8 | Disease-causing somatic mutation(s) in | gene with protein product | 603158 |
| NR3C1 | nuclear receptor subfamily 3 group C member 1 | Disease-causing somatic mutation(s) in | gene with protein product | 138040 |
| TP53 | tumor protein p53 | Disease-causing somatic mutation(s) in | gene with protein product | 191170 |
| ATRX | ATRX chromatin remodeler | Disease-causing somatic mutation(s) in | gene with protein product | 300032 |
Фенотипы (HPO)64
Очень частый (80–99%)4
HP:0003118Increased circulating cortisol level
HP:0003466Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0008291Pituitary corticotropic cell adenoma
HP:0012030Increased urinary cortisol level
Частый (30–79%)32
HP:0000939Osteoporosis
HP:0000953Hyperpigmentation of the skin
HP:0000963Thin skin
HP:0000978Bruising susceptibility
HP:0001007Hirsutism
HP:0001050Plethora
HP:0001058Poor wound healing
HP:0001061Acne
HP:0001065Striae distensae
HP:0001324Muscle weakness
HP:0001626Abnormality of the cardiovascular system
HP:0001888Lymphopenia
HP:0001956Truncal obesity
HP:0001974Leukocytosis
HP:0002721Immunodeficiency
HP:0003154Increased circulating ACTH level
HP:0004324Increased body weight
HP:0007126Proximal amyotrophy
HP:0008221Adrenal hyperplasia
HP:0010284Intra-oral hyperpigmentation
HP:0012743Abdominal obesity
HP:0025017Capillary fragility
HP:0025383Dorsocervical fat pad
HP:0000141Amenorrhea
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0031891Decreased eosinophil count
HP:0040270Impaired glucose tolerance
HP:0500011Moon facies
HP:0030200Fatiguable weakness of proximal limb muscles
Периодический (5–29%)20
HP:0000716Depression
HP:0000725Psychotic episodes
HP:0000869Secondary amenorrhea
HP:0000876Oligomenorrhea
HP:0000979Purpura
HP:0001297Stroke
HP:0001658Myocardial infarction
HP:0002086Abnormality of the respiratory system
HP:0002209Sparse scalp hair
HP:0002315Headache
HP:0002354Memory impairment
HP:0002690Large sella turcica
HP:0002953Vertebral compression fracture
HP:0011370Recurrent cutaneous fungal infections
HP:0031284Flushing
HP:0031364Ecchymosis
HP:0031589Suicidal ideation
HP:0031845Abnormal libido
HP:0033505Livedo reticularis
HP:0200042Skin ulcer
Очень редкий (1–4%)8
HP:0000709Psychosis
HP:0000726Dementia
HP:0001123Visual field defect
HP:0007807Optic nerve compression
HP:0010741Pedal edema
HP:0010885Avascular necrosis
HP:0011999Paranoia
HP:0025269Panic attack
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)