MCID: INT262
MIFTS: 22

Intermediate Maple Syrup Urine Disease malady

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

Aliases & Classifications for Intermediate Maple Syrup Urine Disease

Aliases & Descriptions for Intermediate Maple Syrup Urine Disease:

Name: Intermediate Maple Syrup Urine Disease 56 69
Intermediate Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Intermediate Bckd Deficiency 56
Intermediate Msud 56

Characteristics:

Orphanet epidemiological data:

56
intermediate maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

Orphanet 56 ORPHA268162
ICD10 via Orphanet 34 E71.0
UMLS via Orphanet 70 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, type ii and obesity, morbid, due to leptin receptor deficiency. 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 Intermediate Maple Syrup Urine Disease family:

Maple Syrup Urine Disease, Type Ii

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

id Related Disease Score Top Affiliating Genes
1 maple syrup urine disease, type ii 11.5
2 obesity, morbid, due to leptin receptor deficiency 9.4 BCKDHA BCKDHB DBT PPM1K
3 isolated trigonocephaly 9.3 BCKDHA BCKDHB DBT PPM1K

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:

id Title Authors Year
1
Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice. ( 23566440 )
2013
2
Placental stem cell correction of murine intermediate maple syrup urine disease. ( 23175463 )
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:

id 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
10.75 BCKDHA BCKDHB DBT
7
Show member pathways
9.8 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 BCKDHA BCKDHB DBT
2 glyoxylate metabolic process GO:0046487 9.33 BCKDHA BCKDHB DBT
3 cellular nitrogen compound metabolic process GO:0034641 9.13 BCKDHA BCKDHB DBT
4 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:

id Name GO ID Score Top Affiliating Genes
1 carboxy-lyase activity GO:0016831 9.16 BCKDHA BCKDHB
2 alpha-ketoacid dehydrogenase activity GO:0003826 8.96 BCKDHA BCKDHB
3 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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