MCID: MLT155
MIFTS: 16

Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

MalaCards integrated aliases for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type:

Name: Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 58
Glutaric Aciduria Type 2, Severe Neonatal Type 58
Mad Deficiency, Severe Neonatal Type 58
Madd, Severe Neonatal Type 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E71.3
Orphanet 58 ORPHA394529

Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

MalaCards based summary : Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type, also known as glutaric aciduria type 2, severe neonatal type, is related to acyl-coa dehydrogenase deficiency and acyl-coa dehydrogenase, short-chain, deficiency of. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type is ETFA (Electron Transfer Flavoprotein Subunit Alpha), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotype is Increased homologous recombination repair frequency.

Related Diseases for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Graphical network of the top 20 diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type:



Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Symptoms & Phenotypes for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

GenomeRNAi Phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased homologous recombination repair frequency GR00151-A-1 8.32 ETFA

Drugs & Therapeutics for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Search Clinical Trials , NIH Clinical Center for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Genetic Tests for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Expression for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Search GEO for disease gene expression data for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type.

Pathways for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

GO Terms for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Cellular components related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 FLAD1 ETFDH ETFB ETFA
2 mitochondrial matrix GO:0005759 8.92 FLAD1 ETFDH ETFB ETFA

Biological processes related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 ETFDH ETFB ETFA
2 electron transport chain GO:0022900 9.33 ETFDH ETFB ETFA
3 respiratory electron transport chain GO:0022904 9.13 ETFDH ETFB ETFA
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.8 ETFDH ETFB ETFA

Molecular functions related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 ETFDH ETFA
2 electron transfer activity GO:0009055 8.8 ETFDH ETFB ETFA

Sources for Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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