Hypertyrosinemia

Symptom Information:

Symptom ID: HPO:0003231
Synonyms:
Tyrosinemia [HPO:0003231]
Tyrosinaemia [HPO:0003231]
Tyrosinemia [OMIM:Tyrosinemia]
Tyrosinemia (transient, resolves in infancy) [OMIM:Tyrosinemia (transient, resolves in infancy)]
Tyrosinaemia [MedDRA:10063443]
Quality:
Cross references:
OMIM: "Tyrosinemia" [OMIM:Tyrosinemia]
OMIM: "Tyrosinemia (transient, resolves in infancy)" [OMIM:Tyrosinemia (transient, resolves in infancy)]
UMLS:C0268483 "Tyrosinaemia" [HPO:0003231]
Is a (Direct Parents):
HPO         Abnormality of tyrosine metabolism
MedDRA Abnormality of amino acid 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 tyrosine metabolism(HPO:0010917)
                      Hypertyrosinemia(HPO:0003231)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Hypertyrosinemia(HPO:0003231)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hypertyrosinemia(HPO:0003231)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hypertyrosinemia(HPO:0003231)
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Hawkinsinuria (Orphanet:2118)
Leprechaunism (Orphanet:508)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
TYROSINOSIS (OMIM:276800)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 2 (Orphanet:28378)
Tyrosinemia type 3 (Orphanet:69723)