Carney-Stratakis syndrome
ORPHA:97286DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) in | gene with protein product | 600857 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 185470 |
| SDHC | succinate dehydrogenase complex subunit C | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602413 |
| SDHD | succinate dehydrogenase complex subunit D | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602690 |
Фенотипы (HPO)10
Очень частый (80–99%)2
HP:0002668Paraganglioma
HP:0100723Gastrointestinal stroma tumor
Частый (30–79%)8
HP:0000360Tinnitus
HP:0000365Hearing impairment
HP:0001824Weight loss
HP:0002015Dysphagia
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0005214Intestinal obstruction
HP:0006824Cranial nerve paralysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)