Allan-Herndon-Dudley syndrome
ORPHA:59DiseaseX-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0008936Axial hypotonia
Частый (30–79%)29
HP:0000275Narrow face
HP:0000276Long face
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000822Hypertension
HP:0000975Hyperhidrosis
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001266Choreoathetosis
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0001531Failure to thrive in infancy
HP:0001649Tachycardia
HP:0001763Pes planus
HP:0002058Myopathic facies
HP:0002205Recurrent respiratory infections
HP:0002360Sleep abnormality
HP:0002375Hypokinesia
HP:0002751Kyphoscoliosis
HP:0002926Abnormality of thyroid physiology
HP:0003202Skeletal muscle atrophy
HP:0007256Abnormal pyramidal sign
HP:0008081Pes valgus
HP:0008872Feeding difficulties in infancy
HP:0011788Increased circulating free T3
HP:0012444Brain atrophy
HP:0012448Delayed myelination
HP:0031936Delayed ability to walk
HP:0045082Decreased body mass index
Периодический (5–29%)18
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001319Neonatal hypotonia
HP:0001348Brisk reflexes
HP:0001371Flexion contracture
HP:0001558Decreased fetal movement
HP:0002071Abnormality of extrapyramidal motor function
HP:0002342Intellectual disability, moderate
HP:0002421Poor head control
HP:0002509Limb hypertonia
HP:0002510Spastic tetraplegia
HP:0003324Generalized muscle weakness
HP:0003487Babinski sign
HP:0004322Short stature
HP:0006579Prolonged neonatal jaundice
HP:0011448Ankle clonus
Очень редкий (1–4%)5
HP:0001518Small for gestational age
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0004488Macrocephaly at birth
HP:0100660Dyskinesia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 320 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)