Phenylketonuria
ORPHA:716DiseaseAutosomal recessiveInfancy
Фенотипы (HPO)25
Очень частый (80–99%)1
HP:0032351Phenylalaninuria
Частый (30–79%)14
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000938Osteopenia
HP:0000964Eczematoid dermatitis
HP:0001010Hypopigmentation of the skin
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001510Growth delay
HP:0002353EEG abnormality
HP:0002500Abnormal cerebral white matter morphology
HP:0004923Hyperphenylalaninemia
HP:0010864Intellectual disability, severe
HP:0410021Musty odor
Периодический (5–29%)10
HP:0000716Depression
HP:0000726Dementia
HP:0000736Short attention span
HP:0000739Anxiety
HP:0001251Ataxia
HP:0001298Encephalopathy
HP:0001337Tremor
HP:0002061Lower limb spasticity
HP:0030680Abnormal cardiovascular system morphology
HP:0100704Cerebral visual impairment
Эпидемиология103
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6 | France | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.99 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.5079 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.4 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22 | Ireland | Value and class |
| Point prevalence | 1-5 / 10 000 | 22 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | — | Finland | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.8928 | Finland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.577 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Latin America | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.5999 | Latin America | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.5 | Brazil | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | Brazil | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.266 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.89 | Australia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.9 | Iceland | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.9 | Iceland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.16 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.8 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.412 | China | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2798 | China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.68 | Thailand | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.4399 | Thailand | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.95 | Turkey | Value and class |
| Point prevalence | 1-5 / 10 000 | 14.99 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.6 | United Arab Emirates | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.89 | United Arab Emirates | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Jordan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.6 | Jordan | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.4644 | India | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.439 | Korea, Republic of | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.862 | Philippines | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.2 | Singapore | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.6999 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.5 | Bahrain | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Iran, Islamic Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.9998 | Iraq | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.603 | Israel | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.02 | Saudi Arabia | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Egypt | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.0005 | Tunisia | Value and class |
| Point prevalence | 1-5 / 10 000 | 17.349 | Austria | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.0005 | Belarus | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Bosnia and Herzegovina | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.746 | Bulgaria | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.0004 | Croatia | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.6923 | Cyprus | Value and class |
| Point prevalence | 1-5 / 10 000 | 19.1534 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.4437 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.9997 | Estonia | Value and class |
| Point prevalence | 1-5 / 10 000 | 18.6567 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.5969 | Greece | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.1111 | Hungary | Value and class |
| Point prevalence | 1-5 / 10 000 | 25 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.2399 | Latvia | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.7526 | Lithuania | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.5998 | Moldova, Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.661 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.7282 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.3051 | Poland | Value and class |
| Point prevalence | 1-9 / 100 000 | 8 | Portugal | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Romania | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.9634 | Russian Federation | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.13 | Serbia | Value and class |
| Point prevalence | 1-5 / 10 000 | 17.3822 | Slovakia | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.9 | Slovenia | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.8366 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.8858 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.5 | Switzerland | Value and class |
| Point prevalence | 1-5 / 10 000 | 14.0016 | Ukraine | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.6666 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2798 | New Caledonia | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.2798 | New Zealand | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.3633 | Argentina | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.1999 | Chile | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.0333 | Costa rica | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.5999 | Mexico | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.129 | Peru | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Cuba | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.1366 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.34 | India | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.7 | Pakistan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.8 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.75 | Austria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.6 | Estonia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.316 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.25 | Greece | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.5 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.933 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.6 | North Macedonia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.85 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6 | Portugal | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.9 | Slovakia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.6 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.55 | Chile | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.271 | Iran, Islamic Republic of | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.5 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.1 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.433 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)