Norrie disease
ORPHA:649Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)15
HP:0000400Macrotia
HP:0000446Narrow nasal bridge
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000532Chorioretinal abnormality
HP:0000568Microphthalmia
HP:0000601Hypotelorism
HP:0000618Blindness
HP:0000647Sclerocornea
HP:0007676Hypoplasia of the iris
HP:0007833Anterior chamber synechiae
HP:0007957Corneal opacity
HP:0008046Abnormal retinal vascular morphology
HP:0100012Neoplasm of the eye
HP:0100742Vascular neoplasm
Частый (30–79%)13
HP:0000375Abnormal cochlea morphology
HP:0000541Retinal detachment
HP:0000639Nystagmus
HP:0000709Psychosis
HP:0000733Abnormal repetitive mannerisms
HP:0000737Irritability
HP:0000739Anxiety
HP:0004327Abnormal vitreous humor morphology
HP:0005293Venous insufficiency
HP:0006887Intellectual disability, progressive
HP:0007968Remnants of the hyaloid vascular system
HP:0008063Aplasia/Hypoplasia of the lens
HP:0100639Erectile dysfunction
Периодический (5–29%)36
HP:0000028Cryptorchidism
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000501Glaucoma
HP:0000615Abnormal pupil morphology
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000717Autism
HP:0000738Hallucinations
HP:0000819Diabetes mellitus
HP:0000823Delayed puberty
HP:0001083Ectopia lentis
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0001508Failure to thrive
HP:0002076Migraine
HP:0002120Cerebral cortical atrophy
HP:0002169Clonus
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002650Scoliosis
HP:0004326Cachexia
HP:0007018Attention deficit hyperactivity disorder
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010662Abnormality of the diencephalon
HP:0010978Abnormality of immune system physiology
HP:0011039Abnormality of the helix
HP:0100716Self-injurious behavior
HP:0100718Uterine rupture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 400 | 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)