Cornelia de Lange syndrome
ORPHA:199Malformation syndromeAutosomal dominant, Not applicable, X-linked recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SMC1A | structural maintenance of chromosomes 1A | Disease-causing germline mutation(s) in | gene with protein product | 300040 |
| NIPBL | NIPBL cohesin loading factor | Disease-causing germline mutation(s) in | gene with protein product | 608667 |
| SMC3 | structural maintenance of chromosomes 3 | Disease-causing germline mutation(s) in | gene with protein product | 606062 |
| HDAC8 | histone deacetylase 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300269 |
| RAD21 | RAD21 cohesin complex component | Disease-causing germline mutation(s) in | gene with protein product | 606462 |
| BRD4 | bromodomain containing 4 | Disease-causing germline mutation(s) in | gene with protein product | 608749 |
Фенотипы (HPO)100
Очень частый (80–99%)35
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000413Atresia of the external auditory canal
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000684Delayed eruption of teeth
HP:0000687Widely spaced teeth
HP:0001249Intellectual disability
HP:0001276Hypertonia
HP:0001770Toe syndactyly
HP:0001773Short foot
HP:0002020Gastroesophageal reflux
HP:0002162Low posterior hairline
HP:0002230Generalized hirsutism
HP:0002553Highly arched eyebrow
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0002983Micromelia
HP:0003196Short nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0007665Curly eyelashes
HP:0009623Proximal placement of thumb
HP:0010034Short 1st metacarpal
HP:0010300Abnormally low-pitched voice
HP:0010864Intellectual disability, severe
HP:0200055Small hand
Частый (30–79%)31
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000059Hypoplastic labia majora
HP:0000076Vesicoureteral reflux
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000482Microcornea
HP:0000498Blepharitis
HP:0000508Ptosis
HP:0000545Myopia
HP:0000667Phthisis bulbi
HP:0000722Compulsive behaviors
HP:0000739Anxiety
HP:0000965Cutis marmorata
HP:0001387Joint stiffness
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001622Premature birth
HP:0002167Abnormality of speech or vocalization
HP:0002360Sleep abnormality
HP:0002557Hypoplastic nipples
HP:0002974Radioulnar synostosis
HP:0003042Elbow dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0007018Attention deficit hyperactivity disorder
HP:0007598Bilateral single transverse palmar creases
HP:0008736Hypoplasia of penis
HP:0008850Severe postnatal growth retardation
HP:0008872Feeding difficulties in infancy
HP:0000358Posteriorly rotated ears
Периодический (5–29%)34
HP:0000083Renal insufficiency
HP:0000130Abnormality of the uterus
HP:0000175Cleft palate
HP:0000400Macrotia
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000717Autism
HP:0000767Pectus excavatum
HP:0000776Congenital diaphragmatic hernia
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001385Hip dysplasia
HP:0001557Prenatal movement abnormality
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001883Talipes
HP:0001956Truncal obesity
HP:0002021Pyloric stenosis
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002566Intestinal malrotation
HP:0002580Volvulus
HP:0002827Hip dislocation
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0009830Peripheral neuropathy
HP:0010880Increased nuchal translucency
HP:0012165Oligodactyly
HP:0030680Abnormal cardiovascular system morphology
HP:0040071Abnormal morphology of ulna
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.24 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)