loading...| Preferred Name |
MAPLE SYRUP URINE DISEASE |
| Synonyms |
MSUD |
| ID |
http://purl.bioontology.org/ontology/OMIM/248600 |
| altLabel |
MSUD MAPLE SYRUP URINE DISEASE, CLASSIC MAPLE SYRUP URINE DISEASE, INTERMEDIATE MAPLE SYRUP URINE DISEASE, INTERMITTENT MAPLE SYRUP URINE DISEASE, TYPE IB MAPLE SYRUP URINE DISEASE, TYPE IA KETO ACID DECARBOXYLASE DEFICIENCY MSUD1B BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY MSUD2 MSUD1A BRANCHED-CHAIN KETOACIDURIA BCKD DEFICIENCY MAPLE SYRUP URINE DISEASE, TYPE II MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE |
| cui |
C0268568 C2930990 C1855369 C0024776 C0268569 C0751285 C1621920 C1855371 |
| Gene Locus |
19q13.1-q13.2 |
| Gene Symbol |
MSUD1 BCKDHA |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU011754 http://purl.bioontology.org/ontology/OMIM/MTHU011752 http://purl.bioontology.org/ontology/OMIM/MTHU011750 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU011764 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU020658 http://purl.bioontology.org/ontology/OMIM/MTHU037684 http://purl.bioontology.org/ontology/OMIM/MTHU007048 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU011496 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU011753 http://purl.bioontology.org/ontology/OMIM/MTHU011751 http://purl.bioontology.org/ontology/OMIM/MTHU003881 http://purl.bioontology.org/ontology/OMIM/MTHU036852 http://purl.bioontology.org/ontology/OMIM/MTHU012904 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
248600 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MAPLE SYRUP URINE DISEASE |
| Scope Statement |
(4) Thiamine-responsive form [MISCELLANEOUS] Death in untreated children [MISCELLANEOUS] Caused by mutation in the dihydrolipoamide dehydrogenase gene (DLD, 238331.0001) [MOLECULAR BASIS] Worldwide incidence of 1 in 185,000 live births [MISCELLANEOUS] (2) Intermittent [MISCELLANEOUS] Five clinical variants of MSUD unassociated with genotype [MISCELLANEOUS] In inbred Old Order Mennonite population of Lancaster County, MSUD prevalence is 1/176 newborns [MISCELLANEOUS] Caused by mutation in the branched chain keto acid dehydrogenase E1, alpha polypeptide gene (BCKDHA, 608348.0001) [MOLECULAR BASIS] (5) Dihydrolipoyl dehydrogenase (E3)-deficient [MISCELLANEOUS] (1) Classic severe (onset of symptoms 4 to 7 days of age) [MISCELLANEOUS] Caused by mutation in the dihydrolipoamide branched chain transacylase gene (DBT, 248610.0001) [MOLECULAR BASIS] (3) Intermediate [MISCELLANEOUS] Caused by mutation in the branched chain keto acid dehydrogenase E1, beta polypeptide gene (BCKDHB, 248611.0001) [MOLECULAR BASIS] |
| tui |
T047 |