MCID: MLT155
MIFTS: 17

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 60
Glutaric Aciduria Type 2, Severe Neonatal Type 60
Mad Deficiency, Severe Neonatal Type 60
Madd, Severe Neonatal Type 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:



External Ids:

ICD10 via Orphanet 35 E71.3
Orphanet 60 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 chanarin-dorfman syndrome and riboflavin deficiency. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

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

Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chanarin-dorfman syndrome 9.4 ETFB ETFDH
2 riboflavin deficiency 9.4 ETFA ETFDH FLAD1
3 multiple acyl-coa dehydrogenase deficiency 9.0 ETFA ETFB ETFDH FLAD1
4 multiple acyl-coa dehydrogenase deficiency, mild type 9.0 ETFA ETFB ETFDH FLAD1

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 8.8 ETFA ETFB
2 Decreased homologous recombination repair frequency GR00151-A-2 8.8 ETFB

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 ETFA ETFB ETFDH FLAD1
2 mitochondrial matrix GO:0005759 8.92 ETFA ETFB ETFDH FLAD1

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 9.33 ETFA ETFB ETFDH
2 electron transport chain GO:0022900 9.13 ETFA ETFB ETFDH
3 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.8 ETFA ETFB ETFDH

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 ETFA ETFDH
2 electron transfer activity GO:0009055 8.8 ETFA ETFB ETFDH

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

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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