Niemann-Pick disease type C
ORPHA:646DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)81
Очень частый (80–99%)10
HP:0000511Vertical supranuclear gaze palsy
HP:0000708Atypical behavior
HP:0000952Jaundice
HP:0001268Mental deterioration
HP:0001288Gait disturbance
HP:0001392Abnormality of the liver
HP:0002015Dysphagia
HP:0002240Hepatomegaly
HP:0002344Progressive neurologic deterioration
HP:0003349Low cholesterol esterification rate
Частый (30–79%)18
HP:0000365Hearing impairment
HP:0001250Seizure
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0001618Dysphonia
HP:0001744Splenomegaly
HP:0002167Abnormality of speech or vocalization
HP:0002451Limb dystonia
HP:0002530Axial dystonia
HP:0003651Foam cells
HP:0004333Bone-marrow foam cells
HP:0007240Progressive gait ataxia
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011446Abnormality of higher mental function
HP:0011968Feeding difficulties
HP:0100022Abnormality of movement
HP:0100543Cognitive impairment
Периодический (5–29%)40
HP:0000709Psychosis
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000726Dementia
HP:0000734Disinhibition
HP:0000741Apathy
HP:0000744Low frustration tolerance
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001433Hepatosplenomegaly
HP:0002059Cerebral atrophy
HP:0002061Lower limb spasticity
HP:0002072Chorea
HP:0002079Hypoplasia of the corpus callosum
HP:0002080Intention tremor
HP:0002197Generalized-onset seizure
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002360Sleep abnormality
HP:0002367Visual hallucinations
HP:0002376Developmental regression
HP:0002415Leukodystrophy
HP:0002493Upper motor neuron dysfunction
HP:0002524Cataplexy
HP:0006855Cerebellar vermis atrophy
HP:0007256Abnormal pyramidal sign
HP:0007359Focal-onset seizure
HP:0008765Auditory hallucinations
HP:0011098Speech apraxia
HP:0011400Abnormal CNS myelination
HP:0011471Gastrostomy tube feeding in infancy
HP:0012433Abnormal social behavior
HP:0030050Narcolepsy
HP:0100753Schizophrenia
Очень редкий (1–4%)13
HP:0001399Hepatic failure
HP:0001541Ascites
HP:0001789Hydrops fetalis
HP:0001791Fetal ascites
HP:0002088Abnormal lung morphology
HP:0002093Respiratory insufficiency
HP:0002113Pulmonary infiltrates
HP:0002133Status epilepticus
HP:0002878Respiratory failure
HP:0006913Frontal cortical atrophy
HP:0007108Demyelinating peripheral neuropathy
HP:0007302Bipolar affective disorder
HP:0011951Aspiration pneumonia
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.77 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.35 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.47 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.91 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)