Carney complex
ORPHA:1359DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)64
Очень частый (80–99%)1
HP:0001580Pigmented micronodular adrenocortical disease
Частый (30–79%)17
HP:0000138Ovarian cyst
HP:0000845Elevated circulating growth hormone concentration
HP:0000866Euthyroid multinodular goiter
HP:0000870Increased circulating prolactin concentration
HP:0001003Multiple lentigines
HP:0001074Atypical nevi in non-sun exposed areas
HP:0003118Increased circulating cortisol level
HP:0005585Spotty hyperpigmentation
HP:0007565Multiple cafe-au-lait spots
HP:0010785Gonadal neoplasm
HP:0010788Testicular neoplasm
HP:0011672Cardiac myxoma
HP:0011760Pituitary growth hormone cell adenoma
HP:0030269Increased circulating insulin-like growth factor 1 concentration
HP:0030428Cutaneous myxoma
HP:0100619Sertoli cell neoplasm
HP:0100814Blue nevus
Периодический (5–29%)37
HP:0000008Abnormal morphology of female internal genitalia
HP:0000053Macroorchidism
HP:0000199Tongue nodules
HP:0000708Atypical behavior
HP:0000771Gynecomastia
HP:0000798Oligozoospermia
HP:0000822Hypertension
HP:0000978Bruising susceptibility
HP:0001007Hirsutism
HP:0001065Striae distensae
HP:0001297Stroke
HP:0001324Muscle weakness
HP:0001507Growth abnormality
HP:0001635Congestive heart failure
HP:0001907Thromboembolism
HP:0004324Increased body weight
HP:0006753Neoplasm of the stomach
HP:0010619Fibroadenoma of the breast
HP:0010732Nodular changes affecting the eyelids
HP:0012041Decreased fertility in males
HP:0012206Abnormal sperm motility
HP:0012743Abdominal obesity
HP:0012887Ovarian serous cystadenoma
HP:0025274Ovarian dermoid cyst
HP:0025318Ovarian carcinoma
HP:0025383Dorsocervical fat pad
HP:0025451Testicular adrenal rest tumor
HP:0030038Enchondroma
HP:0030072Paranasal sinus neoplasm
HP:0030075Ductal carcinoma in situ
HP:0100008Schwannoma
HP:0100013Neoplasm of the breast
HP:0100618Leydig cell neoplasia
HP:0100638Neoplasm of the pharynx
HP:0100737Abnormal hard palate morphology
HP:0100751Esophageal neoplasm
HP:0500011Moon facies
Очень редкий (1–4%)9
HP:0000098Tall stature
HP:0000826Precocious puberty
HP:0001402Hepatocellular carcinoma
HP:0002890Thyroid carcinoma
HP:0002894Neoplasm of the pancreas
HP:0002895Papillary thyroid carcinoma
HP:0004944Dilatation of the cerebral artery
HP:0006731Follicular thyroid carcinoma
HP:0100743Neoplasm of the rectum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 750 | Worldwide | Case(s) |
| 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)