3C syndrome
ORPHA:7Malformation syndromeAutosomal recessive, X-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VPS35L | VPS35 endosomal protein sorting factor like | Disease-causing germline mutation(s) in | gene with protein product | 618981 |
| DPYSL5 | dihydropyrimidinase like 5 | Disease-causing germline mutation(s) in | gene with protein product | 608383 |
| WASHC5 | WASH complex subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 610657 |
| CCDC22 | CCC complex scaffolding subunit CCDC22 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300859 |
Фенотипы (HPO)64
Очень частый (80–99%)9
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001305Dandy-Walker malformation
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
Частый (30–79%)25
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000269Prominent occiput
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0001522Death in infancy
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001633Abnormal mitral valve morphology
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001650Aortic valve stenosis
HP:0001702Abnormal tricuspid valve morphology
HP:0002119Ventriculomegaly
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002808Kyphosis
HP:0003196Short nose
HP:0004322Short stature
HP:0004383Hypoplastic left heart
HP:0005280Depressed nasal bridge
HP:0006695Atrioventricular canal defect
HP:0007360Aplasia/Hypoplasia of the cerebellum
Периодический (5–29%)30
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000126Hydronephrosis
HP:0000202Orofacial cleft
HP:0000329Facial hemangioma
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0000470Short neck
HP:0000501Glaucoma
HP:0000567Chorioretinal coloboma
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0000835Adrenal hypoplasia
HP:0000921Missing ribs
HP:0001156Brachydactyly
HP:0001161Hand polydactyly
HP:0001195Single umbilical artery
HP:0001804Hypoplastic fingernail
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002269Abnormality of neuronal migration
HP:0002566Intestinal malrotation
HP:0002937Hemivertebrae
HP:0003272Abnormality of the hip bone
HP:0004397Ectopic anus
HP:0006101Finger syndactyly
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0008736Hypoplasia of penis
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)