Coffin-Siris syndrome
ORPHA:1465Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ARID2 | AT-rich interaction domain 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609539 |
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in | gene with protein product | 601607 |
| SMARCA4 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Disease-causing germline mutation(s) in | gene with protein product | 603254 |
| ARID1B | AT-rich interaction domain 1B | Disease-causing germline mutation(s) in | gene with protein product | 614556 |
| ARID1A | AT-rich interaction domain 1A | Disease-causing germline mutation(s) in | gene with protein product | 603024 |
| SMARCE1 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | Disease-causing germline mutation(s) in | gene with protein product | 603111 |
| SOX11 | SRY-box transcription factor 11 | Disease-causing germline mutation(s) in | gene with protein product | 600898 |
| SOX4 | SRY-box transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 184430 |
| DPF2 | double PHD fingers 2 | Disease-causing germline mutation(s) in | gene with protein product | 601671 |
| SMARCD1 | SWI/SNF related BAF chromatin remodeling complex subunit D1 | Disease-causing germline mutation(s) in | gene with protein product | 601735 |
| SMARCC2 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | Disease-causing germline mutation(s) in | gene with protein product | 601734 |
Фенотипы (HPO)65
Очень частый (80–99%)8
HP:0011231Prominent eyelashes
HP:0011968Feeding difficulties
HP:0000154Wide mouth
HP:0000179Thick lower lip vermilion
HP:0000280Coarse facial features
HP:0000574Thick eyebrow
HP:0000998Hypertrichosis
HP:0001792Small nail
Частый (30–79%)37
HP:0001382Joint hypermobility
HP:0000028Cryptorchidism
HP:0000119Abnormality of the genitourinary system
HP:0000219Thin upper lip vermilion
HP:0000289Broad philtrum
HP:0000294Low anterior hairline
HP:0000365Hearing impairment
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000684Delayed eruption of teeth
HP:0000708Atypical behavior
HP:0001007Hirsutism
HP:0001250Seizure
HP:0001510Growth delay
HP:0001627Abnormal heart morphology
HP:0001999Abnormal facial shape
HP:0002209Sparse scalp hair
HP:0002342Intellectual disability, moderate
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0002750Delayed skeletal maturation
HP:0002788Recurrent upper respiratory tract infections
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0008398Hypoplastic fifth fingernail
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0009237Short 5th finger
HP:0009928Thick nasal alae
HP:0010864Intellectual disability, severe
HP:0011937Hypoplastic fifth toenail
HP:0011951Aspiration pneumonia
HP:0012810Wide nasal base
HP:0030084Clinodactyly
Периодический (5–29%)16
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000545Myopia
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001344Absent speech
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0009879Simplified gyral pattern
HP:0012523Oral aversion
HP:0100790Hernia
Очень редкий (1–4%)4
HP:0000252Microcephaly
HP:0001511Intrauterine growth retardation
HP:0002884Hepatoblastoma
HP:0002895Papillary thyroid carcinoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 190 | 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)