Gorlin syndrome
ORPHA:377Malformation syndromeAutosomal dominantAdolescent, Adult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PTCH1 | patched 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601309 |
| SUFU | SUFU negative regulator of hedgehog signaling | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607035 |
| PTCH2 | patched 2 | Disease-causing germline mutation(s) in | gene with protein product | 603673 |
Фенотипы (HPO)45
Очень частый (80–99%)5
HP:0000995Melanocytic nevus
HP:0002514Cerebral calcification
HP:0002664Neoplasm
HP:0010610Palmar pits
HP:0010612Plantar pits
Частый (30–79%)14
HP:0000256Macrocephaly
HP:0000431Wide nasal bridge
HP:0000464Abnormality of the neck
HP:0000772Abnormal rib morphology
HP:0000892Bifid ribs
HP:0000902Rib fusion
HP:0000907Anterior rib cupping
HP:0001156Brachydactyly
HP:0002650Scoliosis
HP:0002671Basal cell carcinoma
HP:0002948Vertebral fusion
HP:0005462Calcification of falx cerebri
HP:0008422Vertebral wedging
HP:0010603Odontogenic keratocysts of the jaw
Периодический (5–29%)24
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000248Brachycephaly
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000670Carious teeth
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0002007Frontal bossing
HP:0002858Meningioma
HP:0002937Hemivertebrae
HP:0003468Abnormal vertebral morphology
HP:0004408Abnormality of the sense of smell
HP:0005449Bridged sella turcica
HP:0010618Ovarian fibroma
Очень редкий (1–4%)2
HP:0002885Medulloblastoma
HP:0010617Cardiac fibroma
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.3 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.39 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.61 | Australia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.007 | Korea, Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)