Hyperalaninemia

Symptom Information:

Symptom ID: HPO:0003348
Synonyms:
Increased blood alanine [HPO:0003348]
Increased serum alanine [HPO:0003348]
Hyperalaninemia [OMIM:Hyperalaninemia]
Increased blood alanine [OMIM:Increased blood alanine]
Increased serum alanine [OMIM:Increased serum alanine]
Increased serum alanine (1 patient) [OMIM:Increased serum alanine (1 patient)]
Elevated plasma alanine [IBIS,cm]
Quality:
Cross references:
OMIM: "Hyperalaninemia" [OMIM:Hyperalaninemia]
OMIM: "Increased blood alanine" [OMIM:Increased blood alanine]
OMIM: "Increased serum alanine" [OMIM:Increased serum alanine]
OMIM: "Increased serum alanine (1 patient)" [OMIM:Increased serum alanine (1 patient)]
Is a (Direct Parents):
HPO         Abnormality of alanine metabolism
HPO         Abnormality of serum amino acid levels
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 pyruvate family amino acid metabolism(HPO:0010915)
                   Abnormality of alanine metabolism(HPO:0010916)
                      Hyperalaninemia(HPO:0003348)
                Abnormality of serum amino acid levels(HPO:0003112)
                   Hyperalaninemia(HPO:0003348)
MedDRA:
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

Argininosuccinic aciduria (Orphanet:23)
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 9 (Orphanet:319509)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Leigh syndrome (Orphanet:506)
MEGDEL syndrome (Orphanet:352328)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Ornithine transcarbamylase deficiency (Orphanet:664)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)