CACH syndrome
ORPHA:135DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)55
Очень частый (80–99%)2
HP:0006978Dysmyelinating leukodystrophy
HP:0410263Brain imaging abnormality
Частый (30–79%)13
HP:0000648Optic atrophy
HP:0000737Irritability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001272Cerebellar atrophy
HP:0001347Hyperreflexia
HP:0002059Cerebral atrophy
HP:0002070Limb ataxia
HP:0002078Truncal ataxia
HP:0002344Progressive neurologic deterioration
HP:0006855Cerebellar vermis atrophy
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0008209Premature ovarian insufficiency
Периодический (5–29%)39
HP:0000089Renal hypoplasia
HP:0000133Gonadal dysgenesis
HP:0000252Microcephaly
HP:0000518Cataract
HP:0000618Blindness
HP:0000708Atypical behavior
HP:0000741Apathy
HP:0000786Primary amenorrhea
HP:0000869Secondary amenorrhea
HP:0001260Dysarthria
HP:0001264Spastic diplegia
HP:0001269Hemiparesis
HP:0001270Motor delay
HP:0001298Encephalopathy
HP:0001310Dysmetria
HP:0001371Flexion contracture
HP:0001433Hepatosplenomegaly
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0001733Pancreatitis
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002076Migraine
HP:0002315Headache
HP:0002804Arthrogryposis multiplex congenita
HP:0006956Dilation of lateral ventricles
HP:0007361Abnormality of the pons
HP:0008288Nonketotic hyperglycinemia
HP:0008947Floppy infant
HP:0011342Mild global developmental delay
HP:0011968Feeding difficulties
HP:0012690T2 hypointense thalamus
HP:0012704Widened subarachnoid space
HP:0032398Dysgyria
HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging
HP:0100543Cognitive impairment
HP:0100653Optic neuritis
Очень редкий (1–4%)1
HP:0004481Progressive macrocephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 148 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)