MCID: THR026
MIFTS: 23

the Organic Acidemias: an malady

Summaries for the Organic Acidemias: an

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20GeneReviews, 34MalaCards
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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.

GeneReviews summary for oa-overview

Aliases & Classifications for the Organic Acidemias: an

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20GeneReviews
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Aliases & Descriptions:

the organic acidemias: an 20


Related Diseases for the Organic Acidemias: an

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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53PubMed
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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, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 61Thomson Reuters, 52PharmGKB
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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)39
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA39
tryptophan degradation39
glutaryl-CoA degradation39
serotonin degradation39
NAD de novo biosynthesis39
superpathway of melatonin degradation39
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde39
tryptophan utilization I39
melatonin degradation I39
9.7ACAT1, GCDH
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)39
Fatty Acid Beta Oxidation39
9.7GCDH, ACAT1
39.7GCDH, ACAT1
4
Show member pathways
9.7GCDH, ACAT1
5
Show member pathways
mitochondrial L-carnitine shuttle pathway39
Saturated fatty acid biosynthesis61
9.7GCDH, ACAT1
6
Show member pathways
9.6HMGCL, ACAT1
7
Show member pathways
Synthesis and Degradation of Ketone Bodies39
ketolysis39
9.6ACAT1, HMGCL
89.0MCCC2, MCCC1, IVD
9
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.7ACAT1, PCCB, PCCA
108.7ACAT1, PCCB, PCCA
11
Show member pathways
8.3HMGCL, PCCA, PCCB, ACAT1
12
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.2IVD, MCCC1, MCCC2, ACAT1, GCDH
13
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
7.7MCCC1, MCCC2, MMACHC, PCCB, PCCA
147.7PCCA, PCCB, MMACHC, MCCC2, MCCC1
15
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
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:
25HMDB, 46Novoseek, 12DrugBank, 30IUPHAR
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Compounds related to the Organic Acidemias: an according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1FADH2510.2GCDH, IVD
2flavin-adenine dinucleotide46 1211.1IVD, GCDH
3Isovaleryl-CoA2510.1IVD, GCDH
4Lauroyl-CoA2510.1GCDH, IVD
5Nonanoyl-CoA2510.1GCDH, IVD
6Pentanoyl-CoA2510.1GCDH, IVD
7Tetracosanoyl-CoA2510.1GCDH, IVD
8trans-Octadec-2-enoyl-CoA2510.1GCDH, IVD
9Undecanoyl-CoA2510.1GCDH, IVD
10Isobutyryl-CoA2510.1IVD, GCDH
113-hydroxyglutaric acid46 1211.1HMGCL, GCDH
122-methylbutyryl-coa46 2511.1GCDH, IVD
132-Methylhexanoyl-CoA2510.1GCDH, IVD
14Butyryl-CoA2510.1GCDH, IVD
15Decanoyl-CoA (n-C10:0CoA)2510.1GCDH, IVD
16Glutaconyl-CoA2510.1GCDH, IVD
17Hexanoyl-CoA2510.1GCDH, IVD
18Eicosanoyl-CoA2510.0IVD, GCDH
193Z-dodecenoyl-CoA2510.0IVD, GCDH
20octanoyl-coa46 2511.0IVD, GCDH
21Acrylyl-CoA2510.0IVD, GCDH
22Crotonoyl-CoA2510.0GCDH, IVD
23Pristanoyl-CoA2510.0GCDH, IVD
24trans-2-Hexenoyl-CoA2510.0GCDH, IVD
25(2E)-Tetradecenoyl-CoA259.9IVD, GCDH
26(2E)-Decenoyl-CoA259.9GCDH, IVD
27(2E)-Dodecenoyl-CoA259.9GCDH, IVD
28(2E)-Octenoyl-CoA259.8GCDH, IVD
29(E)-2-Methylglutaconic acid259.8MCCC1, MCCC2
30(2E)-Hexadecenoyl-CoA259.8IVD, GCDH
31Palmityl-CoA259.8GCDH, IVD
323-methylglutaconyl-coa46 2510.7MCCC2, MCCC1
33stearoyl-coa46 2510.7IVD, GCDH
34pcca469.6PCCB, PCCA
35S-Methylmalonyl-CoA259.6PCCB, PCCA
36Methylmalonyl-CoA259.6PCCB, PCCA
37propionyl coa469.5PCCB, PCCA
38Heptanoyl-CoA259.5GCDH, IVD
393-methylcrotonyl-coa46 2510.4MCCC2, MCCC1, IVD
40Ceramide (d18:1/16:0)259.4IVD, MCCC1, MCCC2
41acetyl-coa46 2510.3GCDH, HMGCL, ACAT1, IVD
42Propionyl-CoA258.9GCDH, PCCA, PCCB, IVD
43biotin46 25 1210.4MCCC1, MCCC2, PCCB, PCCA
44Phosphate258.4PCCA, PCCB, MCCC2, MCCC1
45adp46 30 2510.4MCCC1, MCCC2, PCCB, PCCA
46Adenosine triphosphate25 129.4PCCA, PCCB, MCCC2, MCCC1

GO Terms for genes affiliated with the Organic Acidemias: an

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet