Cockayne syndrome
ORPHA:191DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)119
Очень частый (80–99%)12
HP:0000253Progressive microcephaly
HP:0000408Progressive sensorineural hearing impairment
HP:0000580Pigmentary retinopathy
HP:0000708Atypical behavior
HP:0001268Mental deterioration
HP:0001272Cerebellar atrophy
HP:0001510Growth delay
HP:0003510Severe short stature
HP:0004326Cachexia
HP:0007266Cerebral dysmyelination
HP:0007703Abnormality of retinal pigmentation
HP:0008897Postnatal growth retardation
Частый (30–79%)36
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000529Progressive visual loss
HP:0000556Retinal dystrophy
HP:0000670Carious teeth
HP:0000762Decreased nerve conduction velocity
HP:0000992Cutaneous photosensitivity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001757High-frequency sensorineural hearing impairment
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002135Basal ganglia calcification
HP:0002171Gliosis
HP:0002213Fine hair
HP:0002461Dense calcifications in the cerebellar dentate nucleus
HP:0002514Cerebral calcification
HP:0002545Patchy demyelination of subcortical white matter
HP:0002803Congenital contracture
HP:0003202Skeletal muscle atrophy
HP:0003474Somatic sensory dysfunction
HP:0003758Reduced subcutaneous adipose tissue
HP:0005781Contractures of the large joints
HP:0006297Enamel hypoplasia
HP:0007108Demyelinating peripheral neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007240Progressive gait ataxia
HP:0007346Subcortical white matter calcifications
HP:0008872Feeding difficulties in infancy
HP:0009830Peripheral neuropathy
HP:0011359Dry hair
HP:0012372Abnormal eye morphology
HP:0100543Cognitive impairment
HP:0100678Premature skin wrinkling
Периодический (5–29%)66
HP:0000011Neurogenic bladder
HP:0000020Urinary incontinence
HP:0000028Cryptorchidism
HP:0000083Renal insufficiency
HP:0000089Renal hypoplasia
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000122Unilateral renal agenesis
HP:0000444Convex nasal ridge
HP:0000481Abnormal cornea morphology
HP:0000486Strabismus
HP:0000512Abnormal electroretinogram
HP:0000519Developmental cataract
HP:0000522Alacrima
HP:0000540Hypermetropia
HP:0000543Optic disc pallor
HP:0000546Retinal degeneration
HP:0000585Band keratopathy
HP:0000613Photophobia
HP:0000616Miosis
HP:0000633Decreased lacrimation
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000680Delayed eruption of primary teeth
HP:0000689Dental malocclusion
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0000970Anhidrosis
HP:0001097Keratoconjunctivitis sicca
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001265Hyporeflexia
HP:0001276Hypertonia
HP:0001284Areflexia
HP:0001347Hyperreflexia
HP:0001612Weak cry
HP:0001744Splenomegaly
HP:0002080Intention tremor
HP:0002149Hyperuricemia
HP:0002240Hepatomegaly
HP:0002345Action tremor
HP:0002376Developmental regression
HP:0002509Limb hypertonia
HP:0002540Inability to walk
HP:0002621Atherosclerosis
HP:0002650Scoliosis
HP:0002684Thickened calvaria
HP:0002808Kyphosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003477Peripheral axonal neuropathy
HP:0004934Vascular calcification
HP:0005930Abnormality of epiphysis morphology
HP:0006482Abnormal dental morphology
HP:0006483Abnormal number of teeth
HP:0008043Retinal arteriolar constriction
HP:0008197Absence of pubertal development
HP:0008936Axial hypotonia
HP:0011451Congenital microcephaly
HP:0011471Gastrostomy tube feeding in infancy
HP:0011527Lentiglobus
HP:0012211Abnormal renal physiology
HP:0012804Corneal ulceration
HP:0025300Malar rash
HP:0025403Stooped posture
HP:0001288Gait disturbance
Очень редкий (1–4%)5
HP:0000568Microphthalmia
HP:0000573Retinal hemorrhage
HP:0001105Retinal atrophy
HP:0001344Absent speech
HP:0006349Agenesis of permanent teeth
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.09 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.18 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | United Kingdom | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)