Classic galactosemia
ORPHA:79239DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)4
HP:0000707Abnormality of the nervous system
HP:0003251Male infertility
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030272Abnormal erythrocyte enzyme activity
Частый (30–79%)24
HP:0000518Cataract
HP:0000750Delayed speech and language development
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000868Decreased fertility in females
HP:0000869Secondary amenorrhea
HP:0000876Oligomenorrhea
HP:0000952Jaundice
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001268Mental deterioration
HP:0001328Specific learning disability
HP:0001399Hepatic failure
HP:0001928Abnormality of coagulation
HP:0002013Vomiting
HP:0002174Postural tremor
HP:0002240Hepatomegaly
HP:0002345Action tremor
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006977Grammar-specific speech disorder
HP:0008209Premature ovarian insufficiency
HP:0009088Speech articulation difficulties
HP:0012537Food intolerance
HP:0030353Decreased serum insulin-like growth factor 1
Периодический (5–29%)25
HP:0000028Cryptorchidism
HP:0000716Depression
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000939Osteoporosis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001298Encephalopathy
HP:0001332Dystonia
HP:0001943Hypoglycemia
HP:0002014Diarrhea
HP:0002141Gait imbalance
HP:0002311Incoordination
HP:0002312Clumsiness
HP:0004349Reduced bone mineral density
HP:0007018Attention deficit hyperactivity disorder
HP:0011098Speech apraxia
HP:0011446Abnormality of higher mental function
HP:0011968Feeding difficulties
HP:0020110Bone fracture
HP:0100512Low levels of vitamin D
HP:0100806Sepsis
Очень редкий (1–4%)1
HP:0001541Ascites
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | China | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 20.8 | Iran, Islamic Republic of | 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)