ONTOLOGY REPORT - ANNOTATIONS


Term:phenylketonuria
go back to main search page
Accession:DOID:9281 term browser browse the term
Definition:A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Synonyms:exact_synonym: Atypical PKU;   Atypical Phenylketonuria;   BH4 Deficiency;   Classical Phenylketonuria;   Folling Disease;   Folling's Disease;   F¿¿lling's disease;   Hyperphenylalaninaemia;   Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism;   Hyperphenylalaninemia, non-pku;   Non Phenylketonuric Hyperphenylalaninemia;   Non-Phenylketonuric Hyperphenylalaninemias;   Oligophrenia Phenylpyruvica;   PAH Deficiency;   PKU;   Phenylalanine Hydroxylase Deficiency;   Phenylalanine Hydroxylase Deficiency Disease;   Phenylalanine Hydroxylase Deficiency Disease, Severe;   Phenylketonuria I;   Phenylketonuria II;   Phenylketonuria Type 2;   Tetrahydrobiopterin Deficiency;   phenylalaninemia;   phenylketonurias
 narrow_synonym: BH4-DEFICIENT HYPERPHENYLALANINEMIA;   FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD;   HPA, NON-PKU MILD;   HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT;   PHENYLKETONURIA, MATERNAL
 primary_id: MESH:D010661
 alt_id: OMIM:261600;   RDO:0000378
 xref: GARD:7383
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509818
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068874
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449120
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210766
G Hnf1a HNF1 homeobox A JBrowse link 12 47,407,811 47,433,342 RGD:13592920
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693700
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601521
RGD:8554872
RGD:13207451
RGD:7240710
RGD:1601523
RGD:1358249
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:1601576
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:1601577
RGD:11554173
RGD:8554872
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:7240710
RGD:8554872
Hyperphenylalaninemia with Primapterinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:8554872
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 JBrowse link 20 26,893,139 26,913,041 RGD:8554872
RGD:7240710
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
Maternal Phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601526
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:2308873

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          Metabolic Brain Diseases, Inborn 385
            phenylketonuria 13
              BH4-deficient hyperphenylalaninemia A 2
              HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
              Hyperphenylalaninemia with Primapterinuria 1
              Hyperphenylalaninemia, BH4-Deficient, B 1
              Hyperphenylalaninemia, BH4-Deficient, C 1
              Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
              Hyperphenylalaninemia, Non-Pku Mild 1
              Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                phenylketonuria 13
                  BH4-deficient hyperphenylalaninemia A 2
                  HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
                  Hyperphenylalaninemia with Primapterinuria 1
                  Hyperphenylalaninemia, BH4-Deficient, B 1
                  Hyperphenylalaninemia, BH4-Deficient, C 1
                  Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
                  Hyperphenylalaninemia, Non-Pku Mild 1
                  Maternal Phenylketonuria 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.