Brain-lung-thyroid syndrome
ORPHA:209905DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)1
HP:0000820Abnormality of the thyroid gland
Частый (30–79%)9
HP:0000707Abnormality of the nervous system
HP:0000851Congenital hypothyroidism
HP:0001251Ataxia
HP:0001266Choreoathetosis
HP:0002072Chorea
HP:0002086Abnormality of the respiratory system
HP:0002098Respiratory distress
HP:0002643Neonatal respiratory distress
HP:0008947Floppy infant
Периодический (5–29%)25
HP:0000407Sensorineural hearing impairment
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001671Abnormal cardiac septum morphology
HP:0002080Intention tremor
HP:0002092Pulmonary arterial hypertension
HP:0002186Apraxia
HP:0002205Recurrent respiratory infections
HP:0002311Incoordination
HP:0002312Clumsiness
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0004305Involuntary movements
HP:0006530Abnormal pulmonary interstitial morphology
HP:0006532Recurrent pneumonia
HP:0008188Thyroid dysgenesis
HP:0008223Compensated hypothyroidism
HP:0011780Thyroid hemiagenesis
Очень редкий (1–4%)25
HP:0000021Megacystis
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000252Microcephaly
HP:0000465Webbed neck
HP:0000668Hypodontia
HP:0000722Compulsive behaviors
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0000829Hypoparathyroidism
HP:0001274Agenesis of corpus callosum
HP:0001655Patent foramen ovale
HP:0001955Unexplained fevers
HP:0001999Abnormal facial shape
HP:0002099Asthma
HP:0002206Pulmonary fibrosis
HP:0002360Sleep abnormality
HP:0002389Cavum septum pellucidum
HP:0002527Falls
HP:0002679Abnormality of the sella turcica
HP:0002878Respiratory failure
HP:0004322Short stature
HP:0030082Abnormal drinking behavior
HP:0100738Abnormal eating behavior
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)