Tuberous sclerosis complex
ORPHA:805DiseaseAutosomal dominantAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IFNG | interferon gamma | Modifying germline mutation in | gene with protein product | 147570 |
| TSC1 | TSC complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 605284 |
| TSC2 | TSC complex subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 191092 |
Фенотипы (HPO)62
Очень частый (80–99%)8
HP:0000077Abnormality of the kidney
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0002539Cortical dysplasia
HP:0009716Subependymal nodules
HP:0009717Cortical tubers
HP:0009719Hypomelanotic macule
HP:0011354Generalized abnormality of skin
Частый (30–79%)27
HP:0000107Renal cyst
HP:0000716Depression
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0002133Status epilepticus
HP:0002360Sleep abnormality
HP:0007359Focal-onset seizure
HP:0007449Confetti-like hypopigmented macules
HP:0008762Repetitive compulsive behavior
HP:0009594Retinal hamartoma
HP:0009721Shagreen patch
HP:0009729Cardiac rhabdomyoma
HP:0010615Angiofibromas
HP:0011097Epileptic spasm
HP:0012433Abnormal social behavior
HP:0012469Infantile spasms
HP:0012622Chronic kidney disease
HP:0012758Neurodevelopmental delay
HP:0012798Pulmonary lymphangiomyomatosis
HP:0040030Chorioretinal hypopigmentation
HP:0100710Impulsivity
HP:0100716Self-injurious behavior
HP:0200035Skin plaque
Периодический (5–29%)14
HP:0000083Renal insufficiency
HP:0000739Anxiety
HP:0000822Hypertension
HP:0001407Hepatic cysts
HP:0002098Respiratory distress
HP:0002105Hemoptysis
HP:0002465Poor speech
HP:0006772Renal angiomyolipoma
HP:0007018Attention deficit hyperactivity disorder
HP:0009718Subependymal giant-cell astrocytoma
HP:0010953Noncommunicating hydrocephalus
HP:0011947Respiratory tract infection
HP:0100804Ungual fibroma
HP:0200040Epidermoid cyst
Очень редкий (1–4%)13
HP:0000113Polycystic kidney dysplasia
HP:0002666Pheochromocytoma
HP:0002878Respiratory failure
HP:0002893Pituitary adenoma
HP:0002897Parathyroid adenoma
HP:0003774Stage 5 chronic kidney disease
HP:0004942Aortic aneurysm
HP:0005584Renal cell carcinoma
HP:0008208Parathyroid hyperplasia
HP:0011029Internal hemorrhage
HP:0012778Retinal astrocytic hamartoma
HP:0030405Pancreatic endocrine tumor
HP:0100570Carcinoid tumor
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.58 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.62 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 3.87 | Hong Kong | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.38 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.45 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)