Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
ORPHA:293987DiseaseUnknownChildhood, Infancy
Фенотипы (HPO)67
Очень частый (80–99%)29
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000463Anteverted nares
HP:0000633Decreased lacrimation
HP:0000729Autistic behavior
HP:0000824Decreased response to growth hormone stimulation test
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0000961Cyanosis
HP:0000966Hypohidrosis
HP:0001513Obesity
HP:0002342Intellectual disability, moderate
HP:0002418Abnormality of midbrain morphology
HP:0002591Polyphagia
HP:0002791Hypoventilation
HP:0002902Hyponatremia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003074Hyperglycemia
HP:0003077Hyperlipidemia
HP:0005280Depressed nasal bridge
HP:0007110Central hypoventilation
HP:0008213Gonadotropin deficiency
HP:0011220Prominent forehead
HP:0011787Central hypothyroidism
HP:0011968Feeding difficulties
HP:0012332Abnormal autonomic nervous system physiology
HP:0012412Premature adrenarche
HP:0012704Widened subarachnoid space
HP:0012760Reduced social responsiveness
Частый (30–79%)22
HP:0000232Everted lower lip vermilion
HP:0000718Aggressive behavior
HP:0000863Central diabetes insipidus
HP:0000870Increased circulating prolactin concentration
HP:0001263Global developmental delay
HP:0001945Fever
HP:0001959Polydipsia
HP:0002045Hypothermia
HP:0002099Asthma
HP:0002376Developmental regression
HP:0002579Gastrointestinal dysmotility
HP:0002650Scoliosis
HP:0002783Recurrent lower respiratory tract infections
HP:0002788Recurrent upper respiratory tract infections
HP:0002870Obstructive sleep apnea
HP:0003005Ganglioneuroma
HP:0004322Short stature
HP:0005616Accelerated skeletal maturation
HP:0006747Ganglioneuroblastoma
HP:0007328Impaired pain sensation
HP:0007695Abnormal pupillary light reflex
HP:0011748Adrenocorticotropic hormone deficiency
Периодический (5–29%)14
HP:0000709Psychosis
HP:0000712Emotional lability
HP:0000716Depression
HP:0000722Compulsive behaviors
HP:0000805Enuresis
HP:0000823Delayed puberty
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0002383Infectious encephalitis
HP:0002608Celiac disease
HP:0006543Cardiorespiratory arrest
HP:0030050Narcolepsy
HP:0100716Self-injurious behavior
Исключён (0%)2
HP:0000739Anxiety
HP:0002153Hyperkalemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 96 | 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)