MCID: THR026
MIFTS: 23

the Organic Acidemias: an malady

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Summaries for the Organic Acidemias: an

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19GeneReviews, 33MalaCards
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MalaCards: the Organic Acidemias: an is related to organic acidemia and methylmalonic acidemia. An important gene associated with the Organic Acidemias: an is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria), and among its related pathways are tryptophan utilization II and Mitochondrial LC-Fatty Acid Beta-Oxidation. The compounds FADH and flavin-adenine dinucleotide have been mentioned in the context of this disorder.

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Aliases & Classifications for the Organic Acidemias: an

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19GeneReviews
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Aliases & Descriptions:

the organic acidemias: an 19


Related Diseases for the Organic Acidemias: an

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17GeneCards, 18GeneDecks
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Diseases related to the Organic Acidemias: an via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1organic acidemia30.3GCDH, MCCC1
2methylmalonic acidemia10.0HMGCL, MMACHC
3homocystinuria10.0HMGCL, MMACHC
4isovaleric acidemia10.0IVD, HMGCL
5beta-ketothiolase deficiency10.0HMGCL, ACAT1
63 methylcrotonyl-coa carboxylase 1 deficiency10.0HMGCL, MCCC2, MCCC1
7propionic acidemia9.9PCCB, PCCA, HMGCL
8metabolic syndrome x9.9ACAT1, PCCB, PCCA

Graphical network of diseases related to the Organic Acidemias: an:



Diseases related to the organic acidemias: an

Symptoms for the Organic Acidemias: an

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Drugs & Therapeutics for the Organic Acidemias: an

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for the Organic Acidemias: an

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Genetic Tests for the Organic Acidemias: an

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Anatomical Context for the Organic Acidemias: an

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Animal Models for the Organic Acidemias: an or affiliated genes

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Publications for the Organic Acidemias: an

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52PubMed
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Articles related to the Organic Acidemias: an:

idTitleAuthorsYear
1
The Organic Acidemias: An Overview (20301313)
1993

Variations for the Organic Acidemias: an

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Expression for genes affiliated with the Organic Acidemias: an

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with the Organic Acidemias: an

Search GEO for disease gene expression data for the Organic Acidemias: an.

Pathways for genes affiliated with the Organic Acidemias: an

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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 60Thomson Reuters, 51PharmGKB
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Pathways related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.7ACAT1, GCDH
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
9.7GCDH, ACAT1
39.7GCDH, ACAT1
4
Show member pathways
9.7GCDH, ACAT1
5
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
9.7GCDH, ACAT1
6
Show member pathways
9.6HMGCL, ACAT1
7
Show member pathways
Synthesis and Degradation of Ketone Bodies38
ketolysis38
9.6ACAT1, HMGCL
89.0MCCC2, MCCC1, IVD
9
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.7ACAT1, PCCB, PCCA
108.7ACAT1, PCCB, PCCA
11
Show member pathways
8.3HMGCL, PCCA, PCCB, ACAT1
12
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.2IVD, MCCC1, MCCC2, ACAT1, GCDH
13
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
7.7MCCC1, MCCC2, MMACHC, PCCB, PCCA
147.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
15
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
6.7HMGCL, IVD, MCCC1, MCCC2, ACAT1, PCCB
16
Show member pathways
6.1IVD, MCCC1, MCCC2, MMACHC, ACAT1, PCCB

Compounds for genes affiliated with the Organic Acidemias: an

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Sources:
24HMDB, 45Novoseek, 11DrugBank, 29IUPHAR
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Compounds related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1FADH2410.2GCDH, IVD
2flavin-adenine dinucleotide45 1111.1IVD, GCDH
3Isovaleryl-CoA2410.1IVD, GCDH
4Lauroyl-CoA2410.1GCDH, IVD
5Nonanoyl-CoA2410.1GCDH, IVD
6Pentanoyl-CoA2410.1GCDH, IVD
7Tetracosanoyl-CoA2410.1GCDH, IVD
8trans-Octadec-2-enoyl-CoA2410.1GCDH, IVD
9Undecanoyl-CoA2410.1GCDH, IVD
10Isobutyryl-CoA2410.1IVD, GCDH
113-hydroxyglutaric acid45 1111.1HMGCL, GCDH
122-methylbutyryl-coa45 2411.1GCDH, IVD
132-Methylhexanoyl-CoA2410.1GCDH, IVD
14Butyryl-CoA2410.1GCDH, IVD
15Decanoyl-CoA (n-C10:0CoA)2410.1GCDH, IVD
16Glutaconyl-CoA2410.1GCDH, IVD
17Hexanoyl-CoA2410.1GCDH, IVD
18Eicosanoyl-CoA2410.0IVD, GCDH
193Z-dodecenoyl-CoA2410.0IVD, GCDH
20octanoyl-coa45 2411.0IVD, GCDH
21Acrylyl-CoA2410.0IVD, GCDH
22Crotonoyl-CoA2410.0GCDH, IVD
23Pristanoyl-CoA2410.0GCDH, IVD
24trans-2-Hexenoyl-CoA2410.0GCDH, IVD
25(2E)-Tetradecenoyl-CoA249.9IVD, GCDH
26(2E)-Decenoyl-CoA249.9GCDH, IVD
27(2E)-Dodecenoyl-CoA249.9GCDH, IVD
28(2E)-Octenoyl-CoA249.8GCDH, IVD
29(E)-2-Methylglutaconic acid249.8MCCC1, MCCC2
30(2E)-Hexadecenoyl-CoA249.8IVD, GCDH
31Palmityl-CoA249.8GCDH, IVD
323-methylglutaconyl-coa45 2410.7MCCC2, MCCC1
33stearoyl-coa45 2410.7IVD, GCDH
34pcca459.6PCCB, PCCA
35S-Methylmalonyl-CoA249.6PCCB, PCCA
36Methylmalonyl-CoA249.6PCCB, PCCA
37propionyl coa459.5PCCB, PCCA
38Heptanoyl-CoA249.5GCDH, IVD
393-methylcrotonyl-coa45 2410.4MCCC2, MCCC1, IVD
40Ceramide (d18:1/16:0)249.4IVD, MCCC1, MCCC2
41acetyl-coa45 2410.3GCDH, HMGCL, ACAT1, IVD
42Propionyl-CoA248.9GCDH, PCCA, PCCB, IVD
43biotin45 24 1110.4MCCC1, MCCC2, PCCB, PCCA
44Phosphate248.4PCCA, PCCB, MCCC2, MCCC1
45adp45 29 2410.4MCCC1, MCCC2, PCCB, PCCA
46Adenosine triphosphate24 119.4PCCA, PCCB, MCCC2, MCCC1

GO Terms for genes affiliated with the Organic Acidemias: an

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16Gene Ontology
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Cellular components related to the Organic Acidemias: an according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.4MCCC1, ACAT1, HMGCL, GCDH
2cytosolGO:0058297.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
3mitochondrionGO:0057396.9MCCC1, MCCC2, MMACHC, ACAT1, PCCB, HMGCL
4mitochondrial matrixGO:0057596.4GCDH, IVD, MCCC1, MCCC2, ACAT1, PCCB

Biological processes related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:0469509.7HMGCL, ACAT1
2ketone body biosynthetic processGO:0469519.6ACAT1, HMGCL
3liver developmentGO:0018899.6HMGCL, ACAT1
4response to starvationGO:0425949.5HMGCL, ACAT1
5short-chain fatty acid catabolic processGO:0196269.2PCCA, PCCB
6fatty acid beta-oxidationGO:0066358.8PCCA, PCCB
7leucine catabolic processGO:0065528.8HMGCL, MCCC2, MCCC1, IVD
8branched-chain amino acid catabolic processGO:0090838.8ACAT1, MCCC2, MCCC1, IVD
9cellular lipid metabolic processGO:0442558.4ACAT1, PCCB, PCCA, HMGCL
10cellular nitrogen compound metabolic processGO:0346418.4IVD, MCCC1, MCCC2, ACAT1, GCDH
11biotin metabolic processGO:0067688.2MCCC1, MCCC2, PCCB, PCCA
12water-soluble vitamin metabolic processGO:0067677.9PCCA, PCCB, MMACHC, MCCC2, MCCC1
13vitamin metabolic processGO:0067667.9MCCC1, MCCC2, MMACHC, PCCB, PCCA
14small molecule metabolic processGO:0442816.3IVD, MCCC1, MCCC2, MMACHC, ACAT1, PCCB

Molecular functions related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:0000629.6HMGCL, GCDH
2biotin bindingGO:0093749.5PCCA, MCCC1
3methylcrotonoyl-CoA carboxylase activityGO:0044859.5MCCC2, MCCC1
4flavin adenine dinucleotide bindingGO:0506609.5GCDH, IVD
5biotin carboxylase activityGO:0040759.4PCCA, MCCC1
6propionyl-CoA carboxylase activityGO:0046589.2PCCA, PCCB
7ATP bindingGO:0055248.0PCCA, PCCB, MCCC2, MCCC1

Products for genes affiliated with the Organic Acidemias: an

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for the Organic Acidemias: an

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet