Hyperthreoninemia

Symptom Information:

Symptom ID: HPO:0003354
Synonyms:
HYPERTHREONINEMIA [HPO:0003354]
Hyperthreoninemia [OMIM:Hyperthreoninemia]
Quality:
Cross references:
OMIM: "Hyperthreoninemia" [OMIM:Hyperthreoninemia]
UMLS:C1848861 "HYPERTHREONINEMIA" [HPO:0003354]
Is a (Direct Parents):
HPO         Abnormality of serum amino acid levels
HPO         Abnormality of threonine 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 threonine metabolism(HPO:0010900)
                      Hyperthreoninemia(HPO:0003354)
                Abnormality of serum amino acid levels(HPO:0003112)
                   Hyperthreoninemia(HPO:0003354)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Leber congenital amaurosis 1 (OMIM:204000)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
THREONINEMIA (OMIM:273770)