MCID: THR026
MIFTS: 23

the Organic Acidemias: an malady

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Summaries for the Organic Acidemias: an

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MalaCards based summary: 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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the Organic Acidemias: an, Aliases & Descriptions:

Name: the Organic Acidemias: an 19


Related Diseases for the Organic Acidemias: an

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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 acidemia30.6GCDH, MCCC1
2methylmalonic acidemia10.2HMGCL, MMACHC
3homocystinuria10.1HMGCL, MMACHC
4isovaleric acidemia10.1IVD, HMGCL
5beta-ketothiolase deficiency10.0HMGCL, ACAT1
63 methylcrotonyl-coa carboxylase 1 deficiency9.8HMGCL, MCCC2, MCCC1
7propionic acidemia9.7PCCB, PCCA, HMGCL
8metabolic syndrome x9.6ACAT1, 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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Drug clinical trials:

Search ClinicalTrials for the Organic Acidemias: an

Search NIH Clinical Center for the Organic Acidemias: an

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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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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Expression patterns in normal tissues for genes affiliated with the Organic Acidemias: an

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Pathways for genes affiliated with the Organic Acidemias: an

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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)37
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA37
tryptophan degradation37
glutaryl-CoA degradation37
serotonin degradation37
NAD de novo biosynthesis37
superpathway of melatonin degradation37
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde37
tryptophan utilization I37
melatonin degradation I37
9.7ACAT1, GCDH
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.7GCDH, ACAT1
39.7GCDH, ACAT1
4
Show member pathways
9.7GCDH, ACAT1
5
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
9.7GCDH, ACAT1
6
Show member pathways
9.6HMGCL, ACAT1
7
Show member pathways
Synthesis and Degradation of Ketone Bodies37
ketolysis37
9.6ACAT1, HMGCL
89.0MCCC2, MCCC1, IVD
9
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.7ACAT1, PCCB, PCCA
108.7ACAT1, PCCB, PCCA
11
Show member pathways
8.3HMGCL, PCCA, PCCB, ACAT1
12
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.2IVD, MCCC1, MCCC2, ACAT1, GCDH
13
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
7.7MCCC1, MCCC2, MMACHC, PCCB, PCCA
147.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
15
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
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, 44Novoseek, 11DrugBank, 28IUPHAR
See all sources

Compounds related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1FADH2410.2GCDH, IVD
2flavin-adenine dinucleotide44 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 acid44 1111.1HMGCL, GCDH
122-methylbutyryl-coa44 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-coa44 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-coa44 2410.7MCCC2, MCCC1
33stearoyl-coa44 2410.7IVD, GCDH
34pcca449.6PCCB, PCCA
35S-Methylmalonyl-CoA249.6PCCB, PCCA
36Methylmalonyl-CoA249.6PCCB, PCCA
37propionyl coa449.5PCCB, PCCA
38Heptanoyl-CoA249.5GCDH, IVD
393-methylcrotonyl-coa44 2410.4MCCC2, MCCC1, IVD
40Ceramide (d18:1/16:0)249.4IVD, MCCC1, MCCC2
41acetyl-coa44 2410.3GCDH, HMGCL, ACAT1, IVD
42Propionyl-CoA248.9GCDH, PCCA, PCCB, IVD
43biotin44 24 1110.4MCCC1, MCCC2, PCCB, PCCA
44Phosphate248.4PCCA, PCCB, MCCC2, MCCC1
45adp44 28 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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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

Sources for the Organic Acidemias: an

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet