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: ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY;   Alpha Aminoadipic Semialdehyde Deficiency Disease;   Familial Hyperlysinemia;   Familial Hyperlysinemias;   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;   Periodic Hyperlysinemias;   Saccharopine Dehydrogenase Deficiency Disease;   hyperlysinemias
 primary_id: MESH:D020167
 alt_id: OMIM:238700;   RDO:0003007
 xref: GARD:2828;   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

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Path 1
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          Metabolic Brain Diseases, Inborn 385
            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 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                hyperlysinemia 1
                  Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                  Lysine Intolerance 0
                  Saccharopinuria 1
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