22q11.2 deletion syndrome
ORPHA:567Malformation syndromeAutosomal dominantAll ages
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TBX1 | T-box transcription factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 602054 |
| TBX1 | T-box transcription factor 1 | Role in the phenotype of | gene with protein product | 602054 |
| ARVCF | ARVCF delta catenin family member | Role in the phenotype of | gene with protein product | 602269 |
| GP1BB | glycoprotein Ib platelet subunit beta | Role in the phenotype of | gene with protein product | 138720 |
| UFD1 | ubiquitin recognition factor in ER associated degradation 1 | Role in the phenotype of | gene with protein product | 601754 |
| HIRA | histone cell cycle regulator | Role in the phenotype of | gene with protein product | 600237 |
| COMT | catechol-O-methyltransferase | Role in the phenotype of | gene with protein product | 116790 |
| JMJD1C | jumonji domain containing 1C | Modifying germline mutation in | gene with protein product | 604503 |
| RREB1 | ras responsive element binding protein 1 | Modifying germline mutation in | gene with protein product | 602209 |
| SEC24C | SEC24 homolog C, COPII component | Modifying germline mutation in | gene with protein product | 607185 |
Фенотипы (HPO)131
Очень частый (80–99%)24
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0000600Abnormality of the pharynx
HP:0000778Hypoplasia of the thymus
HP:0001252Hypotonia
HP:0001611Hypernasal speech
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001641Abnormal pulmonary valve morphology
HP:0001660Truncus arteriosus
HP:0001999Abnormal facial shape
HP:0002381Aphasia
HP:0002691Platybasia
HP:0002721Immunodeficiency
HP:0012303Abnormal aortic arch morphology
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)35
HP:0011840Abnormality of T cell physiology
HP:0000089Renal hypoplasia
HP:0000164Abnormality of the dentition
HP:0000272Malar flattening
HP:0000276Long face
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000385Small earlobe
HP:0000389Chronic otitis media
HP:0000396Overfolded helix
HP:0000470Short neck
HP:0000492Abnormal eyelid morphology
HP:0000508Ptosis
HP:0000627Posterior embryotoxon
HP:0000670Carious teeth
HP:0000739Anxiety
HP:0000829Hypoparathyroidism
HP:0000929Abnormal skull morphology
HP:0001051Seborrheic dermatitis
HP:0001061Acne
HP:0001166Arachnodactyly
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001281Tetany
HP:0001328Specific learning disability
HP:0002019Constipation
HP:0002435Meningocele
HP:0002650Scoliosis
HP:0002901Hypocalcemia
HP:0003326Myalgia
HP:0004322Short stature
HP:0007018Attention deficit hyperactivity disorder
HP:0011496Corneal neovascularization
HP:0012732Anorectal anomaly
HP:0100765Abnormality of the tonsils
Периодический (5–29%)72
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000113Polycystic kidney dysplasia
HP:0000130Abnormality of the uterus
HP:0000160Narrow mouth
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000648Optic atrophy
HP:0000682Abnormality of dental enamel
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000717Autism
HP:0000765Abnormal thorax morphology
HP:0000821Hypothyroidism
HP:0000836Hyperthyroidism
HP:0000979Purpura
HP:0001053Hypopigmented skin patches
HP:0001081Cholelithiasis
HP:0001136Retinal arteriolar tortuosity
HP:0001161Hand polydactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001300Parkinsonism
HP:0001369Arthritis
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001513Obesity
HP:0001537Umbilical hernia
HP:0001561Polyhydramnios
HP:0001601Laryngomalacia
HP:0001643Patent ductus arteriosus
HP:0001646Abnormal aortic valve morphology
HP:0001744Splenomegaly
HP:0001762Talipes equinovarus
HP:0001829Foot polydactyly
HP:0001872Abnormality of thrombocytes
HP:0001873Thrombocytopenia
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002099Asthma
HP:0002101Abnormal lung lobation
HP:0002139Arrhinencephaly
HP:0002239Gastrointestinal hemorrhage
HP:0002251Aganglionic megacolon
HP:0002414Spina bifida
HP:0002566Intestinal malrotation
HP:0002607Bowel incontinence
HP:0002619Varicose veins
HP:0002960Autoimmunity
HP:0002999Patellar dislocation
HP:0005562Multiple renal cysts
HP:0006510Chronic pulmonary obstruction
HP:0007302Bipolar affective disorder
HP:0008872Feeding difficulties in infancy
HP:0011324Multiple suture craniosynostosis
HP:0011662Tricuspid atresia
HP:0100735Hypertensive crisis
HP:0100750Atelectasis
HP:0100753Schizophrenia
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 9.6 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.3 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 37.5 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.8 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)