ONTOLOGY REPORT - ANNOTATIONS


Term:maple syrup urine disease
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Accession:DOID:9269 term browser browse the term
Definition:An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a 'maple syrup' odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Synonyms:exact_synonym: BCKD deficiency;   Branched Chain Ketoaciduria;   Branched Chain alpha Keto Acid Dehydrogenase Deficiency;   Branched-Chain Ketoacidurias;   Classic Maple Syrup Urine Disease;   Classical Maple Syrup Urine Disease;   Keto Acid Decarboxylase Deficiency;   Ketoacidaemia;   MSUD;   MSUD (maple syrup urine disease);   MSUDMV
 narrow_synonym: KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC;   MAPLE SYRUP URINE DISEASE, INTERMEDIATE;   MAPLE SYRUP URINE DISEASE, INTERMITTENT;   MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE;   Maple syrup urine disease, mild variant
 primary_id: MESH:D008375
 alt_id: OMIM:248600;   OMIM:615135;   RDO:0000978
 xref: GARD:3228;   OMIM:PS248600;   ORDO:511
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maple syrup urine disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcat2 branched chain amino acid transaminase 2 JBrowse link 1 101,553,900 101,572,103 RGD:1300291
RGD:11554173
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide JBrowse link 1 82,423,291 82,452,094 RGD:737779
RGD:8554872
RGD:7240710
RGD:734637
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:1599466
RGD:8554872
RGD:7240710
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:7240710
RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
RGD:13592920
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K JBrowse link 4 88,694,395 88,721,374 RGD:8554872
RGD:7240710
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:7240710
RGD:8554872
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide JBrowse link 1 82,423,291 82,452,094 RGD:8554872
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:8554872
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        Metabolic Brain Diseases 441
          Metabolic Brain Diseases, Inborn 385
            maple syrup urine disease 7
              Congenital Infantile Lactic Acidosis due to LAD Deficiency 1
              Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 0
              Maple Syrup Urine Disease, Type 1A 1
              Maple Syrup Urine Disease, Type 1B 1
              Maple Syrup Urine Disease, Type 2 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              organic acidemia 54
                maple syrup urine disease 7
                  Congenital Infantile Lactic Acidosis due to LAD Deficiency 1
                  Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 0
                  Maple Syrup Urine Disease, Type 1A 1
                  Maple Syrup Urine Disease, Type 1B 1
                  Maple Syrup Urine Disease, Type 2 1
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