Hyperalaninemia
Symptom Information:
Symptom ID: | HPO:0003348 | |||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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 serum amino acid levels(HPO:0003112) Hyperalaninemia(HPO:0003348) Abnormality of pyruvate family amino acid metabolism(HPO:0010915) Abnormality of alanine metabolism(HPO:0010916) Hyperalaninemia(HPO:0003348) MedDRA: |
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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) |