MCID: INT262
MIFTS: 23

Intermediate Maple Syrup Urine Disease

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

Aliases & Classifications for Intermediate Maple Syrup Urine Disease

MalaCards integrated aliases for Intermediate Maple Syrup Urine Disease:

Name: Intermediate Maple Syrup Urine Disease 55 69
Intermediate Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 55
Intermediate Bckd Deficiency 55
Intermediate Msud 55

Characteristics:

Orphanet epidemiological data:

55
intermediate maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

Orphanet 55 ORPHA268162
UMLS via Orphanet 70 C1621920
ICD10 via Orphanet 33 E71.0
UMLS 69 C1621920

Summaries for Intermediate Maple Syrup Urine Disease

MalaCards based summary : Intermediate Maple Syrup Urine Disease, also known as intermediate branched-chain 2-ketoacid dehydrogenase deficiency, is related to maple syrup urine disease and heterotaxy, visceral, 2, autosomal. An important gene associated with Intermediate Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide), 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 30.7 BCKDHA BCKDHB DBT PPM1K
2 heterotaxy, visceral, 2, autosomal 10.1

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 (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). ( 19699299 )
2009
4
Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. ( 19436271 )
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
13.34 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
10.79 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 metabolic process GO:0008152 9.33 BCKDHA BCKDHB DBT
2 cellular nitrogen compound metabolic process GO:0034641 9.13 BCKDHA BCKDHB DBT
3 branched-chain amino acid catabolic process GO:0009083 8.92 BCKDHA BCKDHB DBT PPM1K

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

# Name GO ID Score Top Affiliating Genes
1 carboxy-lyase activity GO:0016831 9.16 BCKDHA BCKDHB
2 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 8.96 BCKDHA BCKDHB
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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