MCID: THR026
MIFTS: 19

the Organic Acidemias: an malady

Aliases & Classifications for the Organic Acidemias: an

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Aliases & Descriptions for the Organic Acidemias: an:

Name: the Organic Acidemias: an 19


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.

GeneReviews summary for oa-overview

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1organic acidemia30.5GCDH, MCCC1
2methylmalonic acidemia10.1HMGCL, MMACHC
3homocystinuria10.1MMACHC, HMGCL
4isovaleric acidemia10.1HMGCL, IVD
5alpha-methylacetoacetic aciduria10.0ACAT1, HMGCL
63-methylcrotonyl-coa carboxylase deficiency9.8MCCC1, MCCC2, HMGCL
7propionicacidemia9.7HMGCL, PCCB, PCCA
8metabolic syndrome x9.6PCCA, ACAT1, PCCB

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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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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Pathways related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.7ACAT1, GCDH
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
9.7GCDH, ACAT1
39.7GCDH, ACAT1
4
Show member pathways
9.7ACAT1, GCDH
5
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis59
9.7GCDH, ACAT1
6
Show member pathways
9.6ACAT1, HMGCL
7
Show member pathways
Synthesis and Degradation of Ketone Bodies36
ketolysis36
9.6HMGCL, ACAT1
89.0IVD, MCCC1, MCCC2
9
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.7PCCB, PCCA, ACAT1
108.7ACAT1, PCCB, PCCA
11
Show member pathways
8.3HMGCL, PCCA, PCCB, ACAT1
12
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.2MCCC1, MCCC2, ACAT1, GCDH, IVD
13
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
7.7PCCB, MMACHC, PCCA, MCCC2, MCCC1
147.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
15
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
6.7HMGCL, PCCA, PCCB, ACAT1, MCCC2, MCCC1
16
Show member pathways
6.1PCCA, HMGCL, GCDH, MCCC2, PCCB, ACAT1

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 Suite gene sharing:

(show all 46)
idCompoundScoreTop Affiliating Genes
1FADH2410.2IVD, GCDH
2flavin-adenine dinucleotide44 1111.1GCDH, IVD
3Lauroyl-CoA2410.1GCDH, IVD
4Undecanoyl-CoA2410.1IVD, GCDH
5Isovaleryl-CoA2410.1IVD, GCDH
6Isobutyryl-CoA2410.1IVD, GCDH
7Hexanoyl-CoA2410.1IVD, GCDH
8Nonanoyl-CoA2410.1IVD, GCDH
9Pentanoyl-CoA2410.1GCDH, IVD
102-methylbutyryl-coa44 2411.1IVD, GCDH
113-hydroxyglutaric acid44 1111.1HMGCL, GCDH
12Butyryl-CoA2410.1GCDH, IVD
13Tetracosanoyl-CoA2410.1GCDH, IVD
14trans-Octadec-2-enoyl-CoA2410.1GCDH, IVD
15Glutaconyl-CoA2410.1IVD, GCDH
162-Methylhexanoyl-CoA2410.1IVD, GCDH
17Decanoyl-CoA (n-C10:0CoA)2410.1GCDH, IVD
18Eicosanoyl-CoA2410.0GCDH, IVD
19octanoyl-coa44 2411.0IVD, GCDH
203Z-dodecenoyl-CoA2410.0IVD, GCDH
21Pristanoyl-CoA2410.0GCDH, IVD
22Acrylyl-CoA2410.0IVD, GCDH
23trans-2-Hexenoyl-CoA2410.0IVD, GCDH
24(2E)-Octenoyl-CoA2410.0GCDH, IVD
25(2E)-Decenoyl-CoA249.9IVD, GCDH
26(2E)-Tetradecenoyl-CoA249.9GCDH, IVD
27(2E)-Dodecenoyl-CoA249.9IVD, GCDH
28Crotonoyl-CoA249.8IVD, GCDH
29(E)-2-Methylglutaconic acid249.8MCCC1, MCCC2
30stearoyl-coa44 2410.8IVD, GCDH
31Palmityl-CoA249.8GCDH, IVD
323-methylglutaconyl-coa44 2410.7MCCC2, MCCC1
33(2E)-Hexadecenoyl-CoA249.7GCDH, IVD
34pcca449.6PCCB, PCCA
35S-Methylmalonyl-CoA249.6PCCB, PCCA
36Methylmalonyl-CoA249.6PCCB, PCCA
37propionyl coa449.5PCCA, PCCB
38Heptanoyl-CoA249.5IVD, GCDH
393-methylcrotonyl-coa44 2410.4IVD, MCCC1, MCCC2
40Ceramide (d18:1/16:0)249.4MCCC2, MCCC1, IVD
41acetyl-coa44 2410.3IVD, ACAT1, HMGCL, GCDH
42Propionyl-CoA248.9PCCA, PCCB, IVD, GCDH
43biotin44 24 1110.4PCCA, MCCC2, MCCC1, PCCB
44Phosphate248.4PCCB, MCCC1, MCCC2, PCCA
45adp44 28 2410.4PCCA, PCCB, MCCC1, MCCC2
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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.4MCCC1, ACAT1, HMGCL, GCDH
2cytosolGO:00058297.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
3mitochondrionGO:00057396.9MCCC1, MCCC2, MMACHC, ACAT1, PCCB, HMGCL
4mitochondrial matrixGO:00057596.4GCDH, IVD, MCCC1, MCCC2, ACAT1, PCCB

Biological processes related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:00469509.7HMGCL, ACAT1
2ketone body biosynthetic processGO:00469519.6ACAT1, HMGCL
3liver developmentGO:00018899.6HMGCL, ACAT1
4response to starvationGO:00425949.5HMGCL, ACAT1
5short-chain fatty acid catabolic processGO:00196269.2PCCA, PCCB
6fatty acid beta-oxidationGO:00066358.8PCCA, PCCB
7leucine catabolic processGO:00065528.8HMGCL, MCCC2, MCCC1, IVD
8branched-chain amino acid catabolic processGO:00090838.8ACAT1, MCCC2, MCCC1, IVD
9cellular lipid metabolic processGO:00442558.4ACAT1, PCCB, PCCA, HMGCL
10cellular nitrogen compound metabolic processGO:00346418.4IVD, MCCC1, MCCC2, ACAT1, GCDH
11biotin metabolic processGO:00067688.2MCCC1, MCCC2, PCCB, PCCA
12water-soluble vitamin metabolic processGO:00067677.9PCCA, PCCB, MMACHC, MCCC2, MCCC1
13vitamin metabolic processGO:00067667.9MCCC1, MCCC2, MMACHC, PCCB, PCCA
14small molecule metabolic processGO:00442816.3IVD, MCCC1, MCCC2, MMACHC, ACAT1, PCCB

Molecular functions related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:00000629.6HMGCL, GCDH
2biotin bindingGO:00093749.5PCCA, MCCC1
3methylcrotonoyl-CoA carboxylase activityGO:00044859.5MCCC2, MCCC1
4flavin adenine dinucleotide bindingGO:00506609.5GCDH, IVD
5biotin carboxylase activityGO:00040759.4PCCA, MCCC1
6propionyl-CoA carboxylase activityGO:00046589.2PCCA, PCCB
7ATP bindingGO:00055248.0PCCA, PCCB, MCCC2, MCCC1

Sources for the Organic Acidemias: an

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet