Homocystinuria due to cystathionine beta-synthase deficiency
ORPHA:394DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)62
Очень частый (80–99%)9
HP:0000678Dental crowding
HP:0000939Osteoporosis
HP:0001083Ectopia lentis
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001519Disproportionate tall stature
HP:0002160Hyperhomocystinemia
HP:0002757Recurrent fractures
HP:0004337Abnormality of amino acid metabolism
Частый (30–79%)16
HP:0000545Myopia
HP:0000646Amblyopia
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000822Hypertension
HP:0001387Joint stiffness
HP:0001761Pes cavus
HP:0002204Pulmonary embolism
HP:0002209Sparse scalp hair
HP:0002637Cerebral ischemia
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0004420Arterial thrombosis
HP:0004936Venous thrombosis
HP:0100026Arteriovenous malformation
Периодический (5–29%)37
HP:0000218High palate
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000716Depression
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0001010Hypopigmentation of the skin
HP:0001025Urticaria
HP:0001132Lens subluxation
HP:0001250Seizure
HP:0001300Parkinsonism
HP:0001328Specific learning disability
HP:0001332Dystonia
HP:0001733Pancreatitis
HP:0001933Subcutaneous hemorrhage
HP:0002039Anorexia
HP:0002040Esophageal varix
HP:0002071Abnormality of extrapyramidal motor function
HP:0002170Intracranial hemorrhage
HP:0002239Gastrointestinal hemorrhage
HP:0002240Hepatomegaly
HP:0002353EEG abnormality
HP:0002500Abnormal cerebral white matter morphology
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004374Hemiplegia/hemiparesis
HP:0007703Abnormality of retinal pigmentation
HP:0008770Obsessive-compulsive trait
HP:0012758Neurodevelopmental delay
HP:0025300Malar rash
HP:0033505Livedo reticularis
HP:0033724Cerebral venous sinus thrombosis
HP:0100790Hernia
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.65 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.77 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15.6 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Australia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 55.5 | Qatar | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)