Hereditary pheochromocytoma-paraganglioma
ORPHA:29072DiseaseAutosomal dominantChildhood
Ассоциированные гены15
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC25A11 | solute carrier family 25 member 11 | Disease-causing germline mutation(s) in | gene with protein product | 604165 |
| KIF1B | kinesin family member 1B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605995 |
| MDH2 | malate dehydrogenase 2 | Disease-causing germline mutation(s) in | gene with protein product | 154100 |
| DLST | dihydrolipoamide S-succinyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 126063 |
| RET | ret proto-oncogene | Candidate gene tested in | gene with protein product | 164761 |
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) in | gene with protein product | 600857 |
| SDHC | succinate dehydrogenase complex subunit C | Disease-causing germline mutation(s) in | gene with protein product | 602413 |
| SDHD | succinate dehydrogenase complex subunit D | Disease-causing germline mutation(s) in | gene with protein product | 602690 |
| FH | fumarate hydratase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136850 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Disease-causing germline mutation(s) in | gene with protein product | 185470 |
| TMEM127 | transmembrane protein 127 | Candidate gene tested in | gene with protein product | 613403 |
| MAX | MYC associated transcriptional regulator X | Disease-causing germline mutation(s) in | gene with protein product | 154950 |
| NF1 | neurofibromin 1 | Disease-causing germline mutation(s) in | gene with protein product | 613113 |
| VHL | von Hippel-Lindau tumor suppressor | Disease-causing germline mutation(s) in | gene with protein product | 608537 |
| SDHAF2 | succinate dehydrogenase complex assembly factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 613019 |
Фенотипы (HPO)41
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%)12
HP:0000405Conductive hearing impairment
HP:0000790Hematuria
HP:0000980Pallor
HP:0001293Cranial nerve compression
HP:0001337Tremor
HP:0001605Vocal cord paralysis
HP:0001635Congestive heart failure
HP:0003528Elevated calcitonin
HP:0005584Renal cell carcinoma
HP:0009711Retinal capillary hemangioma
HP:0012222Arachnoid hemangiomatosis
HP:0025269Panic attack
Очень редкий (1–4%)1
HP:0000526Aniridia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.3 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)