Adrenocortical carcinoma
ORPHA:1501DiseaseNot applicableChildhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TP53 | tumor protein p53 | Disease-causing germline mutation(s) in | gene with protein product | 191170 |
| TP53 | tumor protein p53 | Disease-causing somatic mutation(s) in | gene with protein product | 191170 |
| ZNRF3 | zinc and ring finger 3 | Disease-causing somatic mutation(s) in | gene with protein product | 612062 |
| CTNNB1 | catenin beta 1 | Disease-causing somatic mutation(s) in | gene with protein product | 116806 |
| CDKN2A | cyclin dependent kinase inhibitor 2A | Disease-causing somatic mutation(s) in | gene with protein product | 600160 |
| TERT | telomerase reverse transcriptase | Disease-causing somatic mutation(s) in | gene with protein product | 187270 |
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | Disease-causing somatic mutation(s) in | gene with protein product | 188830 |
Фенотипы (HPO)29
Облигатный (100%)1
HP:0006744Adrenocortical carcinoma
Частый (30–79%)27
HP:0000080Abnormality of reproductive system physiology
HP:0000737Irritability
HP:0000739Anxiety
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0000859Hyperaldosteronism
HP:0000975Hyperhidrosis
HP:0000998Hypertrichosis
HP:0001065Striae distensae
HP:0001324Muscle weakness
HP:0001824Weight loss
HP:0001939Abnormality of metabolism/homeostasis
HP:0001962Palpitations
HP:0002027Abdominal pain
HP:0002900Hypokalemia
HP:0003118Increased circulating cortisol level
HP:0003466Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0004324Increased body weight
HP:0011748Adrenocorticotropic hormone deficiency
HP:0012030Increased urinary cortisol level
HP:0025134Increased serum estradiol
HP:0025269Panic attack
HP:0025380Increased circulating androstenedione concentration
HP:0025436Elevated serum 11-deoxycortisol
HP:0030078Lung adenocarcinoma
HP:0030348Increased circulating androgen concentration
HP:0500022Abnormal serum dehydroepiandrosterone level
Периодический (5–29%)1
HP:0003110Abnormality of urine homeostasis
Эпидемиология25
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.03 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.082 | Portugal | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.173 | Austria | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.18 | Belgium | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.249 | Bulgaria | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.547 | Croatia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.271 | Czech Republic | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.314 | Estonia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.225 | Finland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.173 | Germany | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.17 | Iceland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.133 | Ireland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.288 | Italy | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.514 | Latvia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.464 | Lithuania | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.188 | Malta | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.226 | Norway | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.433 | Poland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.234 | Slovakia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.244 | Slovenia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.215 | Spain | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.141 | Switzerland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.167 | Netherlands | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.183 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)