loading...| Preferred Name | Phenylketonuria | |
| Synonyms |
PKU Phenylalanine hydroxylase deficiency PAH deficiency |
|
| Definitions |
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_716 |
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| alternative_term |
PKU Phenylalanine hydroxylase deficiency PAH deficiency |
|
| definition |
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=716 |
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| has_age_of_onset |
Infancy |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-11:5C50.0 ICD-10:E70.0 UMLS:C0031485 OMIM:261600 MeSH:D010661 MedDRA:10034872 ICD-10:E70.1 |
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| label |
Phenylketonuria |
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| notation |
ORPHA:716 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_284814 |
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| prefixIRI |
ORDO:Orphanet_716 |
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| prefLabel |
Phenylketonuria |
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| present_in |
Ireland AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Pakistan AND has_birth_prevalence_average_value : 22.7 AND has_birth_prevalence_range : 1-5 / 10 000 New Zealand AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 1.433 AND has_birth_prevalence_range : 1-9 / 100 000 Latin America AND has_point_prevalence_average_value : 3.5999 AND has_point_prevalence_range : 1-9 / 100 000 Jordan AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 Belarus AND has_point_prevalence_average_value : 13.0005 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_point_prevalence_average_value : 9.5969 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 13.0005 AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 India AND has_birth_prevalence_average_value : 13.34 AND has_birth_prevalence_range : 1-5 / 10 000 Serbia AND has_point_prevalence_average_value : 8.13 AND has_point_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 8.5 AND has_birth_prevalence_range : 1-9 / 100 000 Thailand AND has_birth_prevalence_average_value : 2.68 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 10.99 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 New Caledonia AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.1366 AND has_point_prevalence_range : 1-9 / 100 000 Jordan AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Switzerland AND has_point_prevalence_average_value : 12.5 AND has_point_prevalence_range : 1-5 / 10 000 United Arab Emirates AND has_point_prevalence_average_value : 6.89 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 19.1534 AND has_point_prevalence_range : 1-5 / 10 000 Brazil AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_point_prevalence_average_value : 12.0004 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 7.8858 AND has_point_prevalence_range : 1-9 / 100 000 India AND has_point_prevalence_average_value : 5.4644 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 0.8928 AND has_point_prevalence_range : 1-9 / 1 000 000 Hungary AND has_point_prevalence_average_value : 11.1111 AND has_point_prevalence_range : 1-5 / 10 000 Slovenia AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_birth_prevalence_average_value : 9.95 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 22.0 AND has_point_prevalence_range : 1-5 / 10 000 Turkey AND has_point_prevalence_average_value : 14.99 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 8.89 AND has_point_prevalence_range : 1-9 / 100 000 Slovakia AND has_birth_prevalence_average_value : 16.9 AND has_birth_prevalence_range : 1-5 / 10 000 Austria AND has_birth_prevalence_average_value : 8.75 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_average_value : 18.6567 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000 Israel AND has_point_prevalence_average_value : 15.603 AND has_point_prevalence_range : 1-5 / 10 000 Greece AND has_birth_prevalence_average_value : 4.25 AND has_birth_prevalence_range : 1-9 / 100 000 Moldova, Republic of AND has_point_prevalence_average_value : 13.5998 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 7.4437 AND has_point_prevalence_range : 1-9 / 100 000 Costa rica AND has_point_prevalence_average_value : 2.0333 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 7.271 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 7.85 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Slovakia AND has_point_prevalence_average_value : 17.3822 AND has_point_prevalence_range : 1-5 / 10 000 Cuba AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Bulgaria AND has_point_prevalence_average_value : 3.746 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_point_prevalence_average_value : 13.9997 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 7.933 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 8.661 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 2.439 AND has_point_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_point_prevalence_average_value : 7.02 AND has_point_prevalence_range : 1-9 / 100 000 Thailand AND has_point_prevalence_average_value : 0.4399 AND has_point_prevalence_range : 1-9 / 1 000 000 Egypt AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Latin America AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000 North Macedonia AND has_birth_prevalence_average_value : 24.6 AND has_birth_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_average_value : 6.2798 AND has_point_prevalence_range : 1-9 / 100 000 Chile AND has_birth_prevalence_average_value : 7.55 AND has_birth_prevalence_range : 1-9 / 100 000 Philippines AND has_point_prevalence_average_value : 0.862 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000 Cyprus AND has_point_prevalence_average_value : 7.6923 AND has_point_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_birth_prevalence_average_value : 6.8 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 5.577 AND has_birth_prevalence_range : 1-9 / 100 000 Argentina AND has_point_prevalence_average_value : 6.3633 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.6999 AND has_point_prevalence_range : 1-9 / 100 000 United Arab Emirates AND has_birth_prevalence_average_value : 7.6 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 6.6666 AND has_point_prevalence_range : 1-9 / 100 000 Romania AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Austria AND has_point_prevalence_average_value : 17.349 AND has_point_prevalence_range : 1-5 / 10 000 Poland AND has_point_prevalence_average_value : 12.3051 AND has_point_prevalence_range : 1-5 / 10 000 Chile AND has_point_prevalence_average_value : 5.1999 AND has_point_prevalence_range : 1-9 / 100 000 Lithuania AND has_point_prevalence_average_value : 10.7526 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_birth_prevalence_average_value : 4.412 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Iceland AND has_birth_prevalence_average_value : 11.9 AND has_birth_prevalence_range : 1-5 / 10 000 Iceland AND has_point_prevalence_average_value : 11.9 AND has_point_prevalence_range : 1-5 / 10 000 Bahrain AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Bosnia and Herzegovina AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_average_value : 9.8366 AND has_point_prevalence_range : 1-9 / 100 000 Ukraine AND has_point_prevalence_average_value : 14.0016 AND has_point_prevalence_range : 1-5 / 10 000 Mexico AND has_point_prevalence_average_value : 3.5999 AND has_point_prevalence_range : 1-9 / 100 000 Iraq AND has_point_prevalence_average_value : 6.9998 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 8.7282 AND has_point_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 9.316 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 8.0 AND has_point_prevalence_range : 1-9 / 100 000 Peru AND has_point_prevalence_average_value : 2.129 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 2.266 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 11.5079 AND has_point_prevalence_range : 1-5 / 10 000 Latvia AND has_point_prevalence_average_value : 12.2399 AND has_point_prevalence_range : 1-5 / 10 000 Russian Federation AND has_point_prevalence_average_value : 12.9634 AND has_point_prevalence_range : 1-5 / 10 000 Estonia AND has_birth_prevalence_average_value : 16.6 AND has_birth_prevalence_range : 1-5 / 10 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_284814 |
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| subClassOf |