Hyperphenylalaninemia

Symptom Information:

Symptom ID: HPO:0004923
Synonyms:
Hyperphenylalaninaemia [HPO:0004923]
Hyperphenylalaninemia [OMIM:Hyperphenylalaninemia]
Quality:
Cross references:
OMIM: "Hyperphenylalaninemia" [OMIM:Hyperphenylalaninemia]
UMLS:C0751435 "Hyperphenylalaninaemia" [HPO:0004923]
Is a (Direct Parents):
HPO         Abnormality of phenylalanine metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of aromatic amino acid family metabolism(HPO:0004338)
                   Abnormality of phenylalanine metabolism(HPO:0010893)
                      Hyperphenylalaninemia(HPO:0004923)
MedDRA:
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
Dehydratase deficiency (Orphanet:1578)
Dihydropteridine reductase deficiency (Orphanet:226)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Maternal hyperphenylalaninemia (Orphanet:2209)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Phenylketonuria (Orphanet:716)