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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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hyperlysinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by OMIM:238700 OMIM
ClinVar
PMID:934735, PMID:10775527, PMID:23570448, PMID:23890588 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
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Saccharopinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Saccharopinuria ClinVar PMID:25741868 NCBI chr 4:50,152,005...50,208,935
Ensembl chr 4:50,152,452...50,200,328
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          Metabolic Brain Diseases, Inborn 503
            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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                hyperlysinemia 1
                  Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                  Lysine Intolerance 0
                  Saccharopinuria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.