Cardiofaciocutaneous syndrome
ORPHA:1340Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 164757 |
| KRAS | KRAS proto-oncogene, GTPase | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 190070 |
| MAP2K1 | mitogen-activated protein kinase kinase 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 176872 |
| MAP2K2 | mitogen-activated protein kinase kinase 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601263 |
Фенотипы (HPO)79
Очень частый (80–99%)27
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000499Abnormal eyelash morphology
HP:0000504Abnormality of vision
HP:0000637Long palpebral fissure
HP:0000958Dry skin
HP:0000982Palmoplantar keratoderma
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001531Failure to thrive in infancy
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001654Abnormal heart valve morphology
HP:0002167Abnormality of speech or vocalization
HP:0002213Fine hair
HP:0002299Brittle hair
HP:0004322Short stature
HP:0007392Excessive wrinkled skin
HP:0008872Feeding difficulties in infancy
HP:0009891Underdeveloped supraorbital ridges
HP:0030680Abnormal cardiovascular system morphology
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0000276Long face
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000391Thickened helices
Частый (30–79%)39
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000400Macrotia
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000767Pectus excavatum
HP:0000962Hyperkeratosis
HP:0000974Hyperextensible skin
HP:0001003Multiple lentigines
HP:0001048Cavernous hemangioma
HP:0001622Premature birth
HP:0002007Frontal bossing
HP:0002162Low posterior hairline
HP:0002217Slow-growing hair
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0003196Short nose
HP:0004422Biparietal narrowing
HP:0005280Depressed nasal bridge
HP:0006191Deep palmar crease
HP:0007440Generalized hyperpigmentation
HP:0007565Multiple cafe-au-lait spots
HP:0008064Ichthyosis
HP:0008070Sparse hair
HP:0008391Dystrophic fingernails
HP:0010669Hypoplasia of the zygomatic bone
HP:0040071Abnormal morphology of ulna
HP:0200102Sparse or absent eyelashes
HP:0000358Posteriorly rotated ears
Периодический (5–29%)13
HP:0000126Hydronephrosis
HP:0000176Submucous cleft hard palate
HP:0000238Hydrocephalus
HP:0000648Optic atrophy
HP:0001004Lymphedema
HP:0001260Dysarthria
HP:0001582Redundant skin
HP:0001639Hypertrophic cardiomyopathy
HP:0002120Cerebral cortical atrophy
HP:0002857Genu valgum
HP:0002967Cubitus valgus
HP:0011024Abnormality of the gastrointestinal tract
HP:0012719Functional abnormality of the gastrointestinal tract
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.12 | Japan | Value and class |
| Cases/families | — | 300 | 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)