Williams syndrome
ORPHA:904Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены18
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STX1A | syntaxin 1A | Role in the phenotype of | gene with protein product | 186590 |
| TBL2 | transducin beta like 2 | Role in the phenotype of | gene with protein product | 605842 |
| GTF2IRD2 | GTF2I repeat domain containing 2 | Role in the phenotype of | gene with protein product | 608899 |
| VPS37D | VPS37D subunit of ESCRT-I | Role in the phenotype of | gene with protein product | 610039 |
| FKBP6 | FKBP prolyl isomerase family member 6 (inactive) | Role in the phenotype of | gene with protein product | 604839 |
| RFC2 | replication factor C subunit 2 | Candidate gene tested in | gene with protein product | 600404 |
| NCF1 | neutrophil cytosolic factor 1 | Role in the phenotype of | gene with protein product | 608512 |
| TMEM270 | transmembrane protein 270 | Role in the phenotype of | gene with protein product | 612547 |
| EIF4H | eukaryotic translation initiation factor 4H | Role in the phenotype of | gene with protein product | 603431 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | Candidate gene tested in | gene with protein product | 618202 |
| METTL27 | methyltransferase like 27 | Role in the phenotype of | gene with protein product | 612546 |
| BUD23 | BUD23 rRNA methyltransferase and ribosome maturation factor | Role in the phenotype of | gene with protein product | 615733 |
| BAZ1B | bromodomain adjacent to zinc finger domain 1B | Role in the phenotype of | gene with protein product | 605681 |
| CLIP2 | CAP-Gly domain containing linker protein 2 | Role in the phenotype of | gene with protein product | 603432 |
| ELN | elastin | Role in the phenotype of | gene with protein product | 130160 |
| GTF2I | general transcription factor IIi | Role in the phenotype of | gene with protein product | 601679 |
| GTF2IRD1 | GTF2I repeat domain containing 1 | Role in the phenotype of | gene with protein product | 604318 |
| LIMK1 | LIM domain kinase 1 | Role in the phenotype of | gene with protein product | 601329 |
Фенотипы (HPO)186
Очень частый (80–99%)49
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000179Thick lower lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000275Narrow face
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000307Pointed chin
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000464Abnormality of the neck
HP:0000581Blepharophimosis
HP:0000716Depression
HP:0000739Anxiety
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001310Dysmetria
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0001531Failure to thrive in infancy
HP:0001608Abnormality of the voice
HP:0001609Hoarse voice
HP:0001626Abnormality of the cardiovascular system
HP:0002027Abdominal pain
HP:0002071Abnormality of extrapyramidal motor function
HP:0002141Gait imbalance
HP:0002167Abnormality of speech or vocalization
HP:0002183Phonophobia
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0003072Hypercalcemia
HP:0003196Short nose
HP:0004305Involuntary movements
HP:0004322Short stature
HP:0004428Elfin facies
HP:0008499High hypermetropia
HP:0010526Dysgraphia
HP:0010780Hyperacusis
HP:0010807Open bite
HP:0012433Abnormal social behavior
HP:0012639Abnormal nervous system morphology
HP:0100025Overfriendliness
HP:0100539Periorbital edema
HP:0000358Posteriorly rotated ears
Частый (30–79%)53
HP:0000014Abnormality of the bladder
HP:0000023Inguinal hernia
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000125Pelvic kidney
HP:0000252Microcephaly
HP:0000389Chronic otitis media
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000668Hypodontia
HP:0000682Abnormality of dental enamel
HP:0000689Dental malocclusion
HP:0000691Microdontia
HP:0000717Autism
HP:0000722Compulsive behaviors
HP:0000822Hypertension
HP:0000960Sacral dimple
HP:0001231Abnormal fingernail morphology
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001297Stroke
HP:0001361Nystagmus-induced head nodding
HP:0001387Joint stiffness
HP:0001513Obesity
HP:0001582Redundant skin
HP:0001634Mitral valve prolapse
HP:0001642Pulmonic stenosis
HP:0001653Mitral regurgitation
HP:0001763Pes planus
HP:0001800Hypoplastic toenails
HP:0001822Hallux valgus
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002150Hypercalciuria
HP:0002253Colonic diverticula
HP:0002637Cerebral ischemia
HP:0002808Kyphosis
HP:0002829Arthralgia
HP:0002857Genu valgum
HP:0003236Elevated circulating creatine kinase concentration
HP:0003307Hyperlordosis
HP:0004209Clinodactyly of the 5th finger
HP:0004381Supravalvular aortic stenosis
HP:0004969Peripheral pulmonary artery stenosis
HP:0006482Abnormal dental morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0010669Hypoplasia of the zygomatic bone
HP:0100545Arterial stenosis
HP:0100659Abnormality of the cerebral vasculature
HP:0100785Insomnia
HP:0100817Renovascular hypertension
HP:0200021Down-sloping shoulders
Периодический (5–29%)84
HP:0000010Recurrent urinary tract infections
HP:0000015Bladder diverticulum
HP:0000025Functional abnormality of male internal genitalia
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000075Renal duplication
HP:0000076Vesicoureteral reflux
HP:0000089Renal hypoplasia
HP:0000121Nephrocalcinosis
HP:0000147Polycystic ovaries
HP:0000212Gingival overgrowth
HP:0000485Megalocornea
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000545Myopia
HP:0000627Posterior embryotoxon
HP:0000632Lacrimation abnormality
HP:0000635Blue irides
HP:0000670Carious teeth
HP:0000767Pectus excavatum
HP:0000787Nephrolithiasis
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001052Nevus flammeus
HP:0001081Cholelithiasis
HP:0001136Retinal arteriolar tortuosity
HP:0001181Adducted thumb
HP:0001260Dysarthria
HP:0001537Umbilical hernia
HP:0001618Dysphonia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001635Congestive heart failure
HP:0001636Tetralogy of Fallot
HP:0001639Hypertrophic cardiomyopathy
HP:0001640Cardiomegaly
HP:0001643Patent ductus arteriosus
HP:0001645Sudden cardiac death
HP:0001647Bicuspid aortic valve
HP:0001658Myocardial infarction
HP:0001671Abnormal cardiac septum morphology
HP:0001969Tubulointerstitial abnormality
HP:0002020Gastroesophageal reflux
HP:0002024Malabsorption
HP:0002035Rectal prolapse
HP:0002120Cerebral cortical atrophy
HP:0002205Recurrent respiratory infections
HP:0002308Chiari malformation
HP:0002376Developmental regression
HP:0002575Tracheoesophageal fistula
HP:0002623Overriding aorta
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002974Radioulnar synostosis
HP:0002999Patellar dislocation
HP:0003028Abnormality of the ankles
HP:0003119Abnormal circulating lipid concentration
HP:0003198Myopathy
HP:0003298Spina bifida occulta
HP:0003312Abnormal form of the vertebral bodies
HP:0003422Vertebral segmentation defect
HP:0004295Abnormality of the gastric mucosa
HP:0004306Abnormality of the endocardium
HP:0004398Peptic ulcer
HP:0005113Dilatation of the aortic arch
HP:0005344Abnormality of the carotid arteries
HP:0005562Multiple renal cysts
HP:0005978Type II diabetes mellitus
HP:0007372Atrophy/Degeneration involving the corticospinal tracts
HP:0007477Abnormal dermatoglyphics
HP:0007495Prematurely aged appearance
HP:0007720Flat cornea
HP:0007957Corneal opacity
HP:0008053Aplasia/Hypoplasia of the iris
HP:0008661Urethral stenosis
HP:0008736Hypoplasia of penis
HP:0010662Abnormality of the diencephalon
HP:0010880Increased nuchal translucency
HP:0011001Increased bone mineral density
HP:0100240Synostosis of joints
HP:0100613Death in early adulthood
HP:0001382Joint hypermobility
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 13.3 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.2 | Hong Kong | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.3 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.2 | Hong Kong | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)