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argininemia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ARG1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Arginase
regulation of defense response to fungus
Ureohydrolase, manganese-binding site
Ureohydrolase
negative regulation of T-helper 2 cell cytokine production
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Most Correlated Studies
OMIM - Disorder of amino acid metabolism
Mouse Phenotypes - Autosomal recessive hereditary disorder
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia.
Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia.
Argininemia and vitamin K-dependent coagulation factors deficiency: A case report and a brief review…
Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy.
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Most Relevant Clinical Trials
Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD: a Multic…
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