Noonan syndrome
ORPHA:648Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены15
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RRAS | RAS related | Candidate gene tested in | gene with protein product | 165090 |
| MRAS | muscle RAS oncogene homolog | Disease-causing germline mutation(s) in | gene with protein product | 608435 |
| SPRED2 | sprouty related EVH1 domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 609292 |
| RRAS2 | RAS related 2 | Disease-causing germline mutation(s) in | gene with protein product | 600098 |
| PTPN11 | protein tyrosine phosphatase non-receptor type 11 | Disease-causing germline mutation(s) in | gene with protein product | 176876 |
| CBL | Cbl proto-oncogene | Disease-causing germline mutation(s) in | gene with protein product | 165360 |
| SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 182530 |
| KRAS | KRAS proto-oncogene, GTPase | Disease-causing germline mutation(s) in | gene with protein product | 190070 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 164760 |
| NRAS | NRAS proto-oncogene, GTPase | Disease-causing germline mutation(s) in | gene with protein product | 164790 |
| RIT1 | Ras like without CAAX 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 609591 |
| LZTR1 | leucine zipper like post translational regulator 1 | Disease-causing germline mutation(s) in | gene with protein product | 600574 |
| RASA2 | RAS p21 protein activator 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601589 |
| SOS2 | SOS Ras/Rho guanine nucleotide exchange factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 601247 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 164757 |
Фенотипы (HPO)70
Очень частый (80–99%)29
HP:0001382Joint hypermobility
HP:0000044Hypogonadotropic hypogonadism
HP:0000179Thick lower lip vermilion
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000391Thickened helices
HP:0000465Webbed neck
HP:0000474Thickened nuchal skin fold
HP:0000476Cystic hygroma
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000520Proptosis
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001260Dysarthria
HP:0001324Muscle weakness
HP:0002167Abnormality of speech or vocalization
HP:0003115Abnormal EKG
HP:0004322Short stature
HP:0004415Pulmonary artery stenosis
HP:0006610Wide intermamillary distance
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011800Midface retrusion
HP:0030680Abnormal cardiovascular system morphology
HP:0100625Enlarged thorax
HP:0000358Posteriorly rotated ears
Частый (30–79%)21
HP:0001641Abnormal pulmonary valve morphology
HP:0001743Abnormality of the spleen
HP:0001892Abnormal bleeding
HP:0001928Abnormality of coagulation
HP:0002162Low posterior hairline
HP:0002208Coarse hair
HP:0002240Hepatomegaly
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0007477Abnormal dermatoglyphics
HP:0008872Feeding difficulties in infancy
HP:0011362Abnormal hair quantity
HP:0011675Arrhythmia
HP:0011869Abnormal platelet function
HP:0012758Neurodevelopmental delay
HP:0100763Abnormality of the lymphatic system
HP:0000028Cryptorchidism
HP:0000078Abnormality of the genital system
HP:0000486Strabismus
HP:0000635Blue irides
HP:0001252Hypotonia
Периодический (5–29%)19
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0000938Osteopenia
HP:0000978Bruising susceptibility
HP:0000995Melanocytic nevus
HP:0001004Lymphedema
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0001631Atrial septal defect
HP:0001639Hypertrophic cardiomyopathy
HP:0001680Coarctation of aorta
HP:0002974Radioulnar synostosis
HP:0004209Clinodactyly of the 5th finger
HP:0008897Postnatal growth retardation
HP:0010946Dilatation of the renal pelvis
HP:0011381Aplasia of the semicircular canal
HP:0012209Juvenile myelomonocytic leukemia
HP:0012569Delayed menarche
Очень редкий (1–4%)1
HP:0001643Patent ductus arteriosus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 6-9 / 10 000 | 70 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)