Pitt-Hopkins syndrome
ORPHA:2896Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)69
Очень частый (80–99%)45
HP:0000154Wide mouth
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000391Thickened helices
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000483Astigmatism
HP:0000490Deeply set eye
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000692Tooth malposition
HP:0000954Single transverse palmar crease
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001763Pes planus
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002036Hiatus hernia
HP:0002300Mutism
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002381Aphasia
HP:0006352Failure of eruption of permanent teeth
HP:0008081Pes valgus
HP:0010529Echolalia
HP:0010743Short metatarsal
HP:0011039Abnormality of the helix
HP:0011300Broad fingertip
HP:0011833Overhanging nasal tip
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
HP:0040019Finger clinodactyly
HP:0100633Esophagitis
HP:0200055Small hand
Частый (30–79%)12
HP:0000451Triangular nasal tip
HP:0000486Strabismus
HP:0001063Acrocyanosis
HP:0001250Seizure
HP:0001344Absent speech
HP:0001786Narrow foot
HP:0002066Gait ataxia
HP:0002472Small cerebral cortex
HP:0002793Abnormal pattern of respiration
HP:0002883Hyperventilation
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0010535Sleep apnea
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0001053Hypopigmented skin patches
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0008897Postnatal growth retardation
HP:0040082Happy demeanor
HP:0100716Self-injurious behavior
Очень редкий (1–4%)2
HP:0002251Aganglionic megacolon
HP:0012189Hodgkin lymphoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)