MCID: INT262
MIFTS: 22

Intermediate Maple Syrup Urine Disease

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intermediate Maple Syrup Urine Disease

MalaCards integrated aliases for Intermediate Maple Syrup Urine Disease:

Name: Intermediate Maple Syrup Urine Disease 60 74
Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 60
Intermediate Bckd Deficiency 60
Intermediate Msud 60

Characteristics:

Orphanet epidemiological data:

60
intermediate maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 35 E71.0
UMLS via Orphanet 75 C1621920
Orphanet 60 ORPHA268162
UMLS 74 C1621920

Summaries for Intermediate Maple Syrup Urine Disease

MalaCards based summary : Intermediate Maple Syrup Urine Disease, also known as intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, is related to maple syrup urine disease and organic acidemia. An important gene associated with Intermediate Maple Syrup Urine Disease is DBT (Dihydrolipoamide Branched Chain Transacylase E2), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation.

Related Diseases for Intermediate Maple Syrup Urine Disease

Diseases in the Maple Syrup Urine Disease family:

Intermediate Maple Syrup Urine Disease

Diseases related to Intermediate Maple Syrup Urine Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maple syrup urine disease 31.7 BCKDHA BCKDHB DBT PPM1K
2 organic acidemia 9.6 BCKDHA BCKDHB

Symptoms & Phenotypes for Intermediate Maple Syrup Urine Disease

Drugs & Therapeutics for Intermediate Maple Syrup Urine Disease

Search Clinical Trials , NIH Clinical Center for Intermediate Maple Syrup Urine Disease

Genetic Tests for Intermediate Maple Syrup Urine Disease

Anatomical Context for Intermediate Maple Syrup Urine Disease

Publications for Intermediate Maple Syrup Urine Disease

Articles related to Intermediate Maple Syrup Urine Disease:

# Title Authors Year
1
Placental stem cell correction of murine intermediate maple syrup urine disease. ( 23175463 )
2013
2
Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice. ( 23566440 )
2013
3
Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. ( 19436271 )
2009
4
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). ( 19699299 )
2009
5
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India. ( 17715290 )
2007
6
Production and characterization of murine models of classic and intermediate maple syrup urine disease. ( 16579849 )
2006
7
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. ( 7883996 )
1995
8
A distinct variant of intermediate maple syrup urine disease. ( 3978850 )
1985

Variations for Intermediate Maple Syrup Urine Disease

Expression for Intermediate Maple Syrup Urine Disease

Search GEO for disease gene expression data for Intermediate Maple Syrup Urine Disease.

Pathways for Intermediate Maple Syrup Urine Disease

Pathways related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 BCKDHA BCKDHB DBT PPM1K
2
Show member pathways
13.07 BCKDHA BCKDHB DBT PPM1K
3
Show member pathways
11.33 BCKDHA BCKDHB DBT PPM1K
4
Show member pathways
11.11 BCKDHA BCKDHB DBT
5 10.94 BCKDHA BCKDHB DBT
6
Show member pathways
10.81 BCKDHA BCKDHB DBT
7 9.58 BCKDHA BCKDHB DBT

GO Terms for Intermediate Maple Syrup Urine Disease

Cellular components related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.46 BCKDHA BCKDHB DBT PPM1K
2 mitochondrial matrix GO:0005759 9.26 BCKDHA BCKDHB DBT PPM1K
3 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 8.8 BCKDHA BCKDHB DBT

Biological processes related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 branched-chain amino acid catabolic process GO:0009083 8.8 BCKDHA BCKDHB PPM1K

Molecular functions related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 8.96 BCKDHA BCKDHB
2 alpha-ketoacid dehydrogenase activity GO:0003826 8.62 BCKDHA BCKDHB

Sources for Intermediate Maple Syrup Urine Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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