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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: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, mild variant;   maple syrup urine disease, thiamine-responsive
 primary_id: MESH:D008375
 alt_id: OMIM:248600;   OMIM:615135
 xref: GARD:3228;   ICD10CM:E71.0;   NCI:C34806;   OMIM:PS248600;   ORDO:511
For additional species annotation, visit the Alliance of Genome Resources.


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maple syrup urine disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14755340, PMID:14755340 RGD:1300291 NCBI chr 1:101,553,900...101,572,103
Ensembl chr 1:101,554,642...101,572,080
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
ClinVar
OMIM
PMID:1356170, PMID:1682165, PMID:1867199, PMID:1885764, PMID:1943689, PMID:2241958, PMID:2703538, PMID:7883996, PMID:8037208, PMID:8161368, PMID:9582350, PMID:10694918, PMID:10745006, PMID:11069910, PMID:11448970, PMID:11507102, PMID:11825067, PMID:12888983, PMID:14517957, PMID:14567968, PMID:16468966, PMID:16786533, PMID:17922217, PMID:18378174, PMID:19456321, PMID:19480318, PMID:19715473, PMID:20136525, PMID:20431954, PMID:21098507, PMID:21228398, PMID:21844576, PMID:22593002, PMID:22727569, PMID:23765052, PMID:24033266, PMID:24374108, PMID:24772966, PMID:25087612, PMID:25255367, PMID:25333063, PMID:25525159, PMID:25741868, PMID:26232051, PMID:26257134, PMID:26830710, PMID:26901124, PMID:26937410, PMID:27403441, PMID:28170084, PMID:28417071, PMID:28492532, PMID:29306928, PMID:30311386, PMID:8037208, PMID:1943689 RGD:737779, RGD:734637 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO DNA:deletion mutation:exon 1;
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
ClinVar
OMIM
PMID:8161368, PMID:8312380, PMID:8430702, PMID:9375800, PMID:11112664, PMID:11448970, PMID:11509994, PMID:14517957, PMID:14567968, PMID:14742428, PMID:15884622, PMID:16468966, PMID:16786533, PMID:17922217, PMID:18378174, PMID:19282776, PMID:19480318, PMID:20307994, PMID:21484869, PMID:22326532, PMID:22350544, PMID:22593002, PMID:22727569, PMID:24374108, PMID:24770567, PMID:24772966, PMID:24995870, PMID:25255367, PMID:25333063, PMID:25381949, PMID:25525159, PMID:25741868, PMID:26232051, PMID:26257134, PMID:26453840, PMID:26786177, PMID:26830710, PMID:27507644, PMID:27682710, PMID:28197878, PMID:28417071, PMID:28492532, PMID:28830848, PMID:29306928, PMID:29740775, PMID:30228974, PMID:30298499, PMID:31112740, PMID:2022752 RGD:1599466 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by OMIM:248600
OMIM
ClinVar
PMID:1547285, PMID:1847055, PMID:8430702, PMID:9239422, PMID:9621512, PMID:14517957, PMID:16468966, PMID:16786533, PMID:18378174, PMID:19480318, PMID:20307994, PMID:20570198, PMID:20639189, PMID:21098507, PMID:22090376, PMID:23313820, PMID:24033266, PMID:24394677, PMID:24772966, PMID:25255367, PMID:25525159, PMID:25741868, PMID:26257134, PMID:26589311, PMID:27243974, PMID:27518768, PMID:28417071, PMID:28492532, PMID:30228974 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO
ISS
ClinVar Annotator: match by term: Maple syrup urine disease
OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar
MouseDO
NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar
OMIM
PMID:23086801, PMID:28492532 NCBI chr 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by OMIM:246900
OMIM
ClinVar
PMID:1347528, PMID:1640293, PMID:3769994, PMID:7797549, PMID:8506365, PMID:8652022, PMID:8968745, PMID:9298831, PMID:9540846, PMID:9764998, PMID:9934985, PMID:10448086, PMID:11687750, PMID:12925875, PMID:14765544, PMID:15712224, PMID:16442803, PMID:16601893, PMID:16770810, PMID:17404228, PMID:18362926, PMID:20652410, PMID:20672374, PMID:21558426, PMID:21930696, PMID:23290025, PMID:23478190, PMID:23995961, PMID:24516753, PMID:25251739, PMID:25356417, PMID:25741868, PMID:27290639, PMID:27544700, PMID:27896107, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A ClinVar PMID:1356170, PMID:1682165, PMID:1867199, PMID:1885764, PMID:1943689, PMID:2241958, PMID:2703538, PMID:7883996, PMID:8037208, PMID:9582350, PMID:10694918, PMID:11507102, PMID:11825067, PMID:12888983, PMID:14517957, PMID:14567968, PMID:14742428, PMID:16468966, PMID:16786533, PMID:17922217, PMID:18378174, PMID:19456321, PMID:19480318, PMID:20136525, PMID:20431954, PMID:21098507, PMID:21228398, PMID:22727569, PMID:23765052, PMID:24374108, PMID:25333063, PMID:25741868, PMID:26232051, PMID:26257134, PMID:26830710, PMID:27403441, PMID:28170084, PMID:28417071, PMID:28492532, PMID:29306928, PMID:30311386 NCBI chr 1:82,423,291...82,452,094
Ensembl chr 1:82,423,277...82,452,281
JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
ClinVar Annotator: match by term: Maple syrup urine disease type 1B
ClinVar PMID:8430702, PMID:9375800, PMID:11112664, PMID:11448970, PMID:11509994, PMID:14517957, PMID:14567968, PMID:14742428, PMID:15884622, PMID:16786533, PMID:17922217, PMID:18378174, PMID:19282776, PMID:19480318, PMID:20307994, PMID:21484869, PMID:22593002, PMID:22727569, PMID:24374108, PMID:24772966, PMID:25255367, PMID:25333063, PMID:25741868, PMID:26232051, PMID:26257134, PMID:28417071, PMID:28492532, PMID:28830848, PMID:30228974, PMID:31112740 NCBI chr 8:91,464,229...91,656,134
Ensembl chr 8:91,464,229...91,656,134
JBrowse link
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbt dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease type 2
ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II
ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2
ClinVar PMID:1847055, PMID:1943690, PMID:1990841, PMID:2010537, PMID:8430702, PMID:9239422, PMID:9621512, PMID:14508502, PMID:14517957, PMID:14742428, PMID:16468966, PMID:16786533, PMID:18378174, PMID:20639189, PMID:24772966, PMID:25741868, PMID:26257134, PMID:28417071, PMID:28492532, PMID:31319225 NCBI chr 2:219,563,783...219,592,651
Ensembl chr 2:219,563,783...219,592,650
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        Metabolic Brain Diseases 574
          Metabolic Brain Diseases, Inborn 503
            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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            amino acid metabolic disorder 432
              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
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.