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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperlysinemia
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Accession:DOID:9274 term browser browse the term
Definition:A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
Synonyms:exact_synonym: Familial Hyperlysinemia;   HYPERLYSINEMIA, TYPE I;   Hyperlysinuria With Hyperammonemia;   Hyperlysinuria With Hyperammonemias;   L Lysine:NAD Oxido Reductase Deficiency;   L-Lysine:NAD-Oxido-Reductase Deficiencies;   LYSINE INTOLERANCE;   Lysine Alpha Ketoglutarate Reductase Deficiency Disease;   Lysine:Alpha Ketoglutarate Reductase Deficiency;   Lysine:Alpha-Ketoglutarate Reductase Deficiencies;   Periodic Hyperlysinemia;   familial hyperlysinemias;   hyperlysinemias;   periodic hyperlysinemias
 primary_id: MESH:D020167
 alt_id: OMIM:238700
 xref: GARD:2828;   ICD10CM:E72.3;   NCI:C123433;   ORDO:2203
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hyperlysinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872
Saccharopinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1884
          Metabolic Brain Diseases, Inborn 411
            hyperlysinemia 1
              Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
              Lysine Intolerance 0
              Saccharopinuria 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                hyperlysinemia 1
                  Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                  Lysine Intolerance 0
                  Saccharopinuria 1
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