TARP syndrome
ORPHA:2886Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)4
HP:0000201Pierre-Robin sequence
HP:0001631Atrial septal defect
HP:0001762Talipes equinovarus
HP:0005301Persistent left superior vena cava
Частый (30–79%)14
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000961Cyanosis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001838Rocker bottom foot
HP:0009891Underdeveloped supraorbital ridges
Периодический (5–29%)26
HP:0000028Cryptorchidism
HP:0000085Horseshoe kidney
HP:0000126Hydronephrosis
HP:0000239Large fontanelles
HP:0000365Hearing impairment
HP:0000385Small earlobe
HP:0000395Prominent antihelix
HP:0000463Anteverted nares
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000954Single transverse palmar crease
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001273Abnormal corpus callosum morphology
HP:0001321Cerebellar hypoplasia
HP:0001978Extramedullary hematopoiesis
HP:0002104Apnea
HP:0002136Broad-based gait
HP:0002650Scoliosis
HP:0004492Widely patent fontanelles and sutures
HP:0006101Finger syndactyly
HP:0006434Hypoplasia of proximal radius
HP:0009738Abnormality of the antihelix
HP:0012745Short palpebral fissure
HP:0030084Clinodactyly
HP:0000358Posteriorly rotated ears
Очень редкий (1–4%)11
HP:0000199Tongue nodules
HP:0000648Optic atrophy
HP:0000767Pectus excavatum
HP:0000879Short sternum
HP:0001636Tetralogy of Fallot
HP:0002089Pulmonary hypoplasia
HP:0002246Abnormality of the duodenum
HP:0009085Alveolar ridge overgrowth
HP:0010720Abnormal hair pattern
HP:0011445Athetoid cerebral palsy
HP:0100259Postaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Family(ies) |
| 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)