Cowden syndrome
ORPHA:201Clinical subtypeAutosomal dominantAll ages
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PTEN | phosphatase and tensin homolog | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601728 |
| USF3 | upstream transcription factor family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 617568 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 171834 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Disease-causing germline mutation(s) in | gene with protein product | 185470 |
| SDHD | succinate dehydrogenase complex subunit D | Disease-causing germline mutation(s) in | gene with protein product | 602690 |
| SDHC | succinate dehydrogenase complex subunit C | Disease-causing germline mutation(s) in | gene with protein product | 602413 |
| SEC23B | SEC23 homolog B, COPII component | Disease-causing germline mutation(s) in | gene with protein product | 610512 |
| AKT1 | AKT serine/threonine kinase 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 164730 |
| KLLN | killin, p53 regulated DNA replication inhibitor | Disease-causing germline mutation(s) in | gene with protein product | 612105 |
Фенотипы (HPO)57
Очень частый (80–99%)10
HP:0000853Goiter
HP:0000982Palmoplantar keratoderma
HP:0003002Breast carcinoma
HP:0005595Generalized hyperkeratosis
HP:0008069Neoplasm of the skin
HP:0012733Macule
HP:0012740Papilloma
HP:0100780Conjunctival hamartoma
HP:0200034Papule
HP:0200063Colorectal polyposis
Частый (30–79%)19
HP:0000036Abnormality of the penis
HP:0000158Macroglossia
HP:0000221Furrowed tongue
HP:0000256Macrocephaly
HP:0000820Abnormality of the thyroid gland
HP:0000995Melanocytic nevus
HP:0001048Cavernous hemangioma
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001482Subcutaneous nodule
HP:0002664Neoplasm
HP:0002858Meningioma
HP:0004390Hamartomatous polyposis
HP:0009720Adenoma sebaceum
HP:0010614Fibroma
HP:0012032Lipoma
HP:0100543Cognitive impairment
HP:0100579Mucosal telangiectasiae
Периодический (5–29%)28
HP:0000077Abnormality of the kidney
HP:0000130Abnormality of the uterus
HP:0000218High palate
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000545Myopia
HP:0000717Autism
HP:0000767Pectus excavatum
HP:0000771Gynecomastia
HP:0001053Hypopigmented skin patches
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001317Abnormal cerebellum morphology
HP:0001508Failure to thrive
HP:0002516Increased intracranial pressure
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002861Melanoma
HP:0004322Short stature
HP:0005374Cellular immunodeficiency
HP:0005584Renal cell carcinoma
HP:0006731Follicular thyroid carcinoma
HP:0007565Multiple cafe-au-lait spots
HP:0008675Enlarged polycystic ovaries
HP:0012062Bone cyst
HP:0012114Endometrial carcinoma
HP:0100006Neoplasm of the central nervous system
HP:0100031Neoplasm of the thyroid gland
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.45 | Netherlands | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)