Hyperprolinemia

Symptom Information:

Symptom ID: HPO:0008358
Synonyms:
Hyperprolinaemia [HPO:0008358]
Hyperprolinemia (10-15 times normal) [OMIM:Hyperprolinemia (10-15 times normal)]
Hyperprolinemia (5-10 times normal) [OMIM:Hyperprolinemia (5-10 times normal)]
Hyperprolinaemia [MedDRA:10058509]
Quality:
Cross references:
OMIM: "Hyperprolinemia (10-15 times normal)" [OMIM:Hyperprolinemia (10-15 times normal)]
OMIM: "Hyperprolinemia (5-10 times normal)" [OMIM:Hyperprolinemia (5-10 times normal)]
UMLS:C0268528 "Hyperprolinaemia" [HPO:0008358]
Is a (Direct Parents):
HPO         Abnormality of proline 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 glutamine family amino acid metabolism(HPO:0010902)
                   Abnormality of proline metabolism(HPO:0010907)
                      Hyperprolinemia(HPO:0008358)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Hyperprolinemia(HPO:0008358)
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)
             Hyperprolinemia(HPO:0008358)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hyperprolinemia(HPO:0008358)
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hyperprolinemia type 1 (Orphanet:419)
Hyperprolinemia type 2 (Orphanet:79101)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)