Alström syndrome
ORPHA:64DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)117
Очень частый (80–99%)12
HP:0000388Otitis media
HP:0000408Progressive sensorineural hearing impairment
HP:0000548Cone/cone-rod dystrophy
HP:0000556Retinal dystrophy
HP:0000572Visual loss
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000855Insulin resistance
HP:0001513Obesity
HP:0002155Hypertriglyceridemia
HP:0003077Hyperlipidemia
HP:0004322Short stature
Частый (30–79%)32
HP:0002091Restrictive ventilatory defect
HP:0002591Polyphagia
HP:0002788Recurrent upper respiratory tract infections
HP:0002808Kyphosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002943Thoracic scoliosis
HP:0003474Somatic sensory dysfunction
HP:0004438Hyperostosis frontalis interna
HP:0004469Chronic bronchitis
HP:0004626Lumbar scoliosis
HP:0005978Type II diabetes mellitus
HP:0006532Recurrent pneumonia
HP:0007722Retinal pigment epithelial atrophy
HP:0008373Puberty and gonadal disorders
HP:0010863Receptive language delay
HP:0011108Recurrent sinusitis
HP:0012622Chronic kidney disease
HP:0025383Dorsocervical fat pad
HP:0030948Elevated gamma-glutamyltransferase level
HP:0031865Abnormal liver physiology
HP:0000009Functional abnormality of the bladder
HP:0000518Cataract
HP:0000543Optic disc pallor
HP:0000613Photophobia
HP:0000815Hypergonadotropic hypogonadism
HP:0000822Hypertension
HP:0000842Hyperinsulinemia
HP:0000956Acanthosis nigricans
HP:0001328Specific learning disability
HP:0001644Dilated cardiomyopathy
HP:0001763Pes planus
HP:0001956Truncal obesity
Периодический (5–29%)64
HP:0000010Recurrent urinary tract infections
HP:0000012Urinary urgency
HP:0000016Urinary retention
HP:0000020Urinary incontinence
HP:0000054Micropenis
HP:0000099Glomerulonephritis
HP:0000147Polycystic ovaries
HP:0000230Gingivitis
HP:0000311Round face
HP:0000490Deeply set eye
HP:0000729Autistic behavior
HP:0000771Gynecomastia
HP:0000798Oligozoospermia
HP:0000824Decreased response to growth hormone stimulation test
HP:0000832Primary hypothyroidism
HP:0000858Irregular menstruation
HP:0001007Hirsutism
HP:0001123Visual field defect
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001397Hepatic steatosis
HP:0001399Hepatic failure
HP:0001409Portal hypertension
HP:0001433Hepatosplenomegaly
HP:0001635Congestive heart failure
HP:0001685Myocardial fibrosis
HP:0001744Splenomegaly
HP:0001751Abnormal vestibular function
HP:0001831Short toe
HP:0002020Gastroesophageal reflux
HP:0002040Esophageal varix
HP:0002092Pulmonary arterial hypertension
HP:0002098Respiratory distress
HP:0002213Fine hair
HP:0002240Hepatomegaly
HP:0002292Frontal balding
HP:0002311Incoordination
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0003774Stage 5 chronic kidney disease
HP:0005616Accelerated skeletal maturation
HP:0006510Chronic pulmonary obstruction
HP:0007010Poor fine motor coordination
HP:0007787Posterior subcapsular cataract
HP:0008625Severe sensorineural hearing impairment
HP:0008734Decreased testicular size
HP:0009381Short finger
HP:0009804Tooth agenesis
HP:0009894Thickened ears
HP:0010790Hyoplasia of the Leydig cells
HP:0011073Abnormality of dental color
HP:0011510Drusen
HP:0012041Decreased fertility in males
HP:0012115Hepatitis
HP:0012786Recurrent cystitis
HP:0012860Testicular fibrosis
HP:0025335Delayed ability to stand
HP:0025336Delayed ability to sit
HP:0025488Detrusor sphincter dyssynergia
HP:0025496Abnormal coronary artery physiology
HP:0030348Increased circulating androgen concentration
HP:0031507Decreased circulating thyroxine level
HP:0031936Delayed ability to walk
HP:0100518Dysuria
HP:0410019Epigastric pain
Очень редкий (1–4%)9
HP:0001251Ataxia
HP:0001733Pancreatitis
HP:0002360Sleep abnormality
HP:0002480Hepatic encephalopathy
HP:0003326Myalgia
HP:0010465Precocious puberty in females
HP:0011147Typical absence seizure
HP:0012569Delayed menarche
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Cases/families | — | 950 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)