Sotos syndrome
ORPHA:821DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NSD1 | nuclear receptor binding SET domain protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606681 |
| APC2 | APC regulator of Wnt signaling pathway 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612034 |
Фенотипы (HPO)107
Очень частый (80–99%)3
HP:0000098Tall stature
HP:0000280Coarse facial features
HP:0012771Increased arm span
Частый (30–79%)24
HP:0000268Dolichocephaly
HP:0000275Narrow face
HP:0000276Long face
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000483Astigmatism
HP:0000494Downslanted palpebral fissures
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0002019Constipation
HP:0002650Scoliosis
HP:0004768Sparse anterior scalp hair
HP:0005616Accelerated skeletal maturation
HP:0006579Prolonged neonatal jaundice
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
HP:0031284Flushing
HP:0040194Increased head circumference
HP:0400000Tall chin
HP:0410263Brain imaging abnormality
HP:0001382Joint hypermobility
Периодический (5–29%)34
HP:0000739Anxiety
HP:0001176Large hands
HP:0001320Cerebellar vermis hypoplasia
HP:0001337Tremor
HP:0001371Flexion contracture
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001763Pes planus
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002119Ventriculomegaly
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002280Enlarged cisterna magna
HP:0002342Intellectual disability, moderate
HP:0002370Poor coordination
HP:0002384Focal impaired awareness seizure
HP:0002389Cavum septum pellucidum
HP:0002442Dyscalculia
HP:0002808Kyphosis
HP:0004942Aortic aneurysm
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0010741Pedal edema
HP:0010864Intellectual disability, severe
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000083Renal insufficiency
HP:0000164Abnormality of the dentition
HP:0000256Macrocephaly
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
Очень редкий (1–4%)46
HP:0006349Agenesis of permanent teeth
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000034Hydrocele testis
HP:0000047Hypospadias
HP:0000073Ureteral duplication
HP:0000074Ureteropelvic junction obstruction
HP:0000104Renal agenesis
HP:0000126Hydronephrosis
HP:0000144Decreased fertility
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000668Hypodontia
HP:0000696Delayed eruption of permanent teeth
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0000953Hyperpigmentation of the skin
HP:0001010Hypopigmentation of the skin
HP:0001028Hemangioma
HP:0001363Craniosynostosis
HP:0001537Umbilical hernia
HP:0001741Phimosis
HP:0001762Talipes equinovarus
HP:0001792Small nail
HP:0001998Neonatal hypoglycemia
HP:0002251Aganglionic megacolon
HP:0002664Neoplasm
HP:0003006Neuroblastoma
HP:0003072Hypercalcemia
HP:0003273Hip contracture
HP:0003468Abnormal vertebral morphology
HP:00046912-3 toe syndactyly
HP:0005617Bilateral camptodactyly
HP:0006466Ankle flexion contracture
HP:0006721Acute lymphoblastic leukemia
HP:0007018Attention deficit hyperactivity disorder
HP:0009592Astrocytoma
HP:0009797Cholesteatoma
HP:0010957Congenital posterior urethral valve
HP:0030357Small cell lung carcinoma
HP:0030736Sacrococcygeal teratoma
HP:0032447Pulmonary bleb
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.1 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)