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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:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 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:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:31112740 PMID:31523617 PMID:31980395, 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:9536098 PMID:11112664 PMID:11448970 PMID:11509994 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 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:25640679 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:29307017 PMID:29740478 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:9536098 PMID:9621512 PMID:11112664 PMID:14517957 PMID:16199547 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 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:26232051 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:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 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:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27144126 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:9536098 PMID:9582350 PMID:10694918 PMID:11069910 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:20136525 PMID:20431954 PMID:21098507 PMID:21228398 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26830710 PMID:26901124 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:31112740 PMID:31523617 PMID:31980395 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:25525159 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:9536098 PMID:9621512 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 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 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        Metabolic Brain Diseases 608
          Metabolic Brain Diseases, Inborn 538
            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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            amino acid metabolic disorder 448
              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