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Standards Ontologies Notations
phenylketonuria

Summary
Synonym
  • Folling's disease
  • PKU
  • maternal phenylketonuria
  • phenylalaninemia
Definition
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:9281
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
2539 G6PD glucose-6-phosphate dehydrogenase
4744 NEFH neurofilament heavy chain
6927 HNF1A HNF1 homeobox A
50506 DUOX2 dual oxidase 2
53905 DUOX1 dual oxidase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14380 G6pd2 glucose-6-phosphate dehydrogenase 2
14381 G6pdx glucose-6-phosphate dehydrogenase X-linked
380684 Nefh neurofilament, heavy polypeptide
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24377 G6pd glucose-6-phosphate dehydrogenase
79107 Duox2 dual oxidase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32974 Zw Zwischenferment
33477 Duox Dual oxidase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
171608 bli-3 Dual oxidase 1
178046 gspd-1 Glucose-6-phosphate 1-dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855480 ZWF1 glucose-6-phosphate dehydrogenase
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024