Hypermethioninemia

Symptom Information:

Symptom ID: HPO:0003235
Synonyms:
Methioninemia [HPO:0003235]
Methioninaemia [HPO:0003235]
Hypermethioninemia [OMIM:Hypermethioninemia]
Methioninemia [OMIM:Methioninemia]
Quality:
Cross references:
OMIM: "Hypermethioninemia" [OMIM:Hypermethioninemia]
OMIM: "Methioninemia" [OMIM:Methioninemia]
UMLS:C0268621 "Methioninaemia" [HPO:0003235]
Is a (Direct Parents):
HPO         Abnormality of methionine 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 aspartate family amino acid metabolism(HPO:0010899)
                   Abnormality of methionine metabolism(HPO:0010901)
                      Hypermethioninemia(HPO:0003235)
                Abnormality of sulfur amino acid metabolism(HPO:0004339)
                   Abnormality of methionine metabolism(HPO:0010901)
                      Hypermethioninemia(HPO:0003235)
MedDRA:
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Brain demyelination due to methionine adenosyltransferase deficiency (Orphanet:168598)
Hypermethioninemia due to glycine N-methyltransferase deficiency (Orphanet:289891)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Syndromic diarrhea (Orphanet:84064)
Tyrosinemia type 1 (Orphanet:882)