Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621DiseaseNot applicableAdolescent, Adult, Childhood
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SDHD | succinate dehydrogenase complex subunit D | Major susceptibility factor in | gene with protein product | 602690 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Major susceptibility factor in | gene with protein product | 185470 |
| DNMT3A | DNA methyltransferase 3 alpha | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 602769 |
| EPAS1 | endothelial PAS domain protein 1 | Disease-causing somatic mutation(s) in | gene with protein product | 603349 |
| VHL | von Hippel-Lindau tumor suppressor | Major susceptibility factor in | gene with protein product | 608537 |
| RET | ret proto-oncogene | Major susceptibility factor in | gene with protein product | 164761 |
Фенотипы (HPO)36
Очень частый (80–99%)3
HP:0002668Paraganglioma
HP:0006737Extraadrenal pheochromocytoma
HP:0006748Adrenal pheochromocytoma
Частый (30–79%)25
HP:0000093Proteinuria
HP:0000096Glomerulosclerosis
HP:0000740Episodic paroxysmal anxiety
HP:0001069Episodic hyperhidrosis
HP:0001095Hypertensive retinopathy
HP:0001342Cerebral hemorrhage
HP:0001618Dysphonia
HP:0001824Weight loss
HP:0001962Palpitations
HP:0002018Nausea
HP:0002331Recurrent paroxysmal headache
HP:0002574Episodic abdominal pain
HP:0002640Hypertension associated with pheochromocytoma
HP:0002864Paraganglioma of head and neck
HP:0003072Hypercalcemia
HP:0003345Elevated urinary norepinephrine
HP:0003574Positive regitine blocking test
HP:0003639Elevated urinary epinephrine
HP:0008629Pulsatile tinnitus
HP:0010532Paroxysmal vertigo
HP:0011703Sinus tachycardia
HP:0011979Elevated urinary dopamine
HP:0012378Fatigue
HP:0031284Flushing
HP:0100749Chest pain
Периодический (5–29%)8
HP:0000405Conductive hearing impairment
HP:0000790Hematuria
HP:0000980Pallor
HP:0001293Cranial nerve compression
HP:0001337Tremor
HP:0001605Vocal cord paralysis
HP:0001635Congestive heart failure
HP:0025269Panic attack
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)