loading...| Preferred Name |
MAPLE SYRUP URINE DISEASE |
|
| Synonyms |
MSUD1A MAPLE SYRUP URINE DISEASE, INTERMEDIATE MAPLE SYRUP URINE DISEASE, CLASSIC MAPLE SYRUP URINE DISEASE, INTERMITTENT MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE KETO ACID DECARBOXYLASE DEFICIENCY BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY BCKD DEFICIENCY MAPLE SYRUP URINE DISEASE, TYPE IB MSUD1B MAPLE SYRUP URINE DISEASE, TYPE II MAPLE SYRUP URINE DISEASE, TYPE IA MSUD BRANCHED-CHAIN KETOACIDURIA MSUD2 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/248600 |
|
| altLabel |
MSUD1A MAPLE SYRUP URINE DISEASE, INTERMEDIATE MAPLE SYRUP URINE DISEASE, CLASSIC MAPLE SYRUP URINE DISEASE, INTERMITTENT MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE KETO ACID DECARBOXYLASE DEFICIENCY BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY BCKD DEFICIENCY MAPLE SYRUP URINE DISEASE, TYPE IB MSUD1B MAPLE SYRUP URINE DISEASE, TYPE II MAPLE SYRUP URINE DISEASE, TYPE IA MSUD BRANCHED-CHAIN KETOACIDURIA MSUD2 |
|
| cui |
C2930990 C0268568 C0024776 C0751285 C0268569 C1855369 C1855371 C1621920 |
|
| Gene Locus |
19q13.1-q13.2 |
|
| Gene Symbol |
MSUD1 BCKDHA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007048 http://purl.bioontology.org/ontology/OMIM/MTHU011496 http://purl.bioontology.org/ontology/OMIM/MTHU037683 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU011764 http://purl.bioontology.org/ontology/OMIM/MTHU020658 http://purl.bioontology.org/ontology/OMIM/MTHU011750 http://purl.bioontology.org/ontology/OMIM/MTHU011753 http://purl.bioontology.org/ontology/OMIM/MTHU011754 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU003881 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU037684 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU011751 http://purl.bioontology.org/ontology/OMIM/MTHU011752 http://purl.bioontology.org/ontology/OMIM/MTHU036349 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 |
Caused by mutation in the dihydrolipoamide dehydrogenase gene (DLD, 238331.0001) [MOLECULAR BASIS] Death in untreated children [MISCELLANEOUS] (1) Classic severe (onset of symptoms 4 to 7 days of age) [MISCELLANEOUS] (5) Dihydrolipoyl dehydrogenase (E3)-deficient [MISCELLANEOUS] Worldwide incidence of 1 in 185,000 live births [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] 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] Five clinical variants of MSUD unassociated with genotype [MISCELLANEOUS] (4) Thiamine-responsive form [MISCELLANEOUS] (2) Intermittent [MISCELLANEOUS] |
|
| tui |
T047 |