Noonan syndrome with multiple lentigines
ORPHA:500Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PTPN11 | protein tyrosine phosphatase non-receptor type 11 | Disease-causing germline mutation(s) in | gene with protein product | 176876 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 164757 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 164760 |
Фенотипы (HPO)50
Очень частый (80–99%)16
HP:0000078Abnormality of the genital system
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000974Hyperextensible skin
HP:0000995Melanocytic nevus
HP:0001003Multiple lentigines
HP:0001480Freckling
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001639Hypertrophic cardiomyopathy
HP:0001641Abnormal pulmonary valve morphology
HP:0001642Pulmonic stenosis
HP:0004414Abnormality of the pulmonary artery
HP:0008625Severe sensorineural hearing impairment
HP:0011675Arrhythmia
HP:0011710Bundle branch block
Частый (30–79%)16
HP:0000028Cryptorchidism
HP:0000144Decreased fertility
HP:0000271Abnormality of the face
HP:0000431Wide nasal bridge
HP:0000465Webbed neck
HP:0000508Ptosis
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000912Sprengel anomaly
HP:0001633Abnormal mitral valve morphology
HP:0001634Mitral valve prolapse
HP:0003691Scapular winging
HP:0004322Short stature
HP:0006695Atrioventricular canal defect
HP:0030680Abnormal cardiovascular system morphology
HP:0000358Posteriorly rotated ears
Периодический (5–29%)18
HP:0000047Hypospadias
HP:0000248Brachycephaly
HP:0000325Triangular face
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001482Subcutaneous nodule
HP:0001608Abnormality of the voice
HP:0001658Myocardial infarction
HP:0002617Dilatation
HP:0002650Scoliosis
HP:0002861Melanoma
HP:0002863Myelodysplasia
HP:0003006Neuroblastoma
HP:0003298Spina bifida occulta
HP:0004306Abnormality of the endocardium
HP:0007392Excessive wrinkled skin
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0100542Abnormal localization of kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 296 | 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)