SCADD
MCID: SHR003
MIFTS: 31

Short-Chain Acyl-Coa Dehydrogenase Deficiency (SCADD) malady

Neuronal, Metabolic categories

Summaries for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Short-chain acyl-coenzyme a (coa) dehydrogenase (scad) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy. this condition belongs to a group of disorders known as fatty acid oxidation disorders (fod). scad deficiency is caused by the lack of an enzyme known as short-chain acyl-coa dehydrogenase, which is involved in the breakdown of short-chain fatty acids. when not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body. the symptoms of scad deficiency include a lack of energy, poor growth, and developmental delay. treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting). last updated: 10/6/2008

MalaCards: Short-Chain Acyl-Coa Dehydrogenase Deficiency, also known as scad deficiency, is related to axonal neuropathy and very long-chain acyl-coenzyme a dehydrogenase deficiency. An important gene associated with Short-Chain Acyl-Coa Dehydrogenase Deficiency is ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain), and among its related pathways are Glucose metabolism and Glycolysis and gluconeogenesis (short map). The compounds 11beta-hydroxysteroid and oxaloacetate have been mentioned in the context of this disorder.

Genetics Home Reference:21 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).

Description from OMIM:47 201470

GeneReviews summary for scad

Aliases & Classifications for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic


Characteristics (Orphanet epidemiological data):

49
scad deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

short-chain acyl-coa dehydrogenase deficiency 19 21
scad deficiency 19 43 21 45 49
short chain acyl coa dehydrogenase deficiency 43 20
deficiency of butyryl-coa dehydrogenase 21 61
scadh deficiency 43 21
acads deficiency 43 21
lipid-storage myopathy secondary to short chain acyl coa dehydrogenase deficiency 43
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency 21
short-chain acyl-coenzyme a dehydrogenase deficiency 21
acyl-coa dehydrogenase, short-chain, deficiency of 47
multiple acyl coenzyme a dehydrogenase deficiency 61
short chain acyl-coa dehydrogenase deficiency 49
scadd 49


External Ids:

OMIM47 201470
MESH via Orphanet36 C537596
ICD10 via Orphanet26 E71.3

Related Diseases for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:



Diseases related to short-chain acyl-coa dehydrogenase deficiency

Clinical Features for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

201470

Clinical synopsis from OMIM:

201470

Drugs & Therapeutics for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Search NIH Clinical Center for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Search CenterWatch for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Genetic Tests for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
20GeneTests
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Genetic tests related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Short Chain Acyl-coa Dehydrogenase Deficiency20 ACADS

Anatomical Context for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Animal Models for Short-Chain Acyl-Coa Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Genetic Variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency:

63
id Symbol AA change Variation SNP ID
1ACADSp.Arg46TrpVAR_000310
2ACADSp.Gly92CysVAR_000311
3ACADSp.Arg107CysVAR_000312
4ACADSp.Trp177ArgVAR_000314rs57443665
5ACADSp.Arg383CysVAR_000316rs28940872
6ACADSp.Gly90SerVAR_013565
7ACADSp.Ala192ValVAR_013568rs28940874
8ACADSp.Arg325TrpVAR_013569
9ACADSp.Ser353LeuVAR_013570rs28941773
10ACADSp.Arg380TrpVAR_013571rs28940875

Expression for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for Short-Chain Acyl-Coa Dehydrogenase Deficiency.

Pathways for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
54Reactome, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
45Novoseek, 50PharmGKB, 2BitterDB, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
111beta-hydroxysteroid459.8ACADS, PCK2
2oxaloacetate459.8PCK2, PC
3delta(1)pyrroline-5-carboxylate459.8OTC, ASS1
4sodium benzoate50 210.8OTC, ASS1
5l-citrulline29 1110.8OTC, ASS1
6ammonium459.7OTC, ASS1
7glycerol 3-phosphate45 2410.7PC, PCK2
8fructose45 1110.7PCK2, PC
9alpha-ketoglutarate459.7PCK2, PC
10bicarbonate459.6PCK2, PC
11riboflavin45 11 2411.6ACADS, ACADM
12glucose 6-phosphate45 2410.6PC, PCK2
13acetyl-l-carnitine459.6ACADM, OTC
14bamhi459.6ACADM, OTC
15flavin-adenine dinucleotide45 1110.6ACADM, ACADS
16flavin459.6ACADS, ACADM
173-methylcrotonyl-coa45 2410.5PC, ACADM
18malate459.4PC, PCK2, OTC
192-methylbutyryl-coa45 2410.4ACADS, ACADM
20glycerol45 11 2411.3PC, PCK2, OTC
21phenylacetic acid50 45 2411.3ASS1, OTC, PC
22octanoyl-coa45 2410.3ACADM, ACADS
23oleic acid45 29 11 2412.3ACADM, PCK2
24carbamoyl phosphate459.3PC, OTC, ASS1
25citrulline45 2410.3ASS1, OTC, PC
26glycogen45 2410.3PC, PCK2, OTC
27nadh45 11 2411.3ASS1, ACADS, PC
28(2E)-Decenoyl-CoA249.2ACADS, ACADM
29(2E)-Tetradecenoyl-CoA249.2ACADS, ACADM
30(2E)-Dodecenoyl-CoA249.1ACADS, ACADM
31s-adenosylmethionine45 11 2411.1ACADS, ACADM, PC
32leucine459.1PCK2, OTC, ASS1
33chloramphenicol45 2 1111.0PCK2, OTC, ACADM
34lysine459.0PC, OTC, ACADM
35(2E)-Octenoyl-CoA248.9ACADS, ACADM
36phosphoenolpyruvate45 119.8ASS1, OTC, PCK2, PC
37ornithine45 249.8PC, PCK2, OTC, ASS1
38urea45 11 2410.8ASS1, OTC, PCK2, PC
39pyruvate458.8PC, PCK2, OTC, ASS1
40aspartate458.8ASS1, OTC, PCK2, PC
41atp45 299.7ASS1, OTC, PCK2, PC
42acetyl-coa45 249.6ACADS, ACADM, PCK2, PC
43glutamine458.6PC, PCK2, OTC, ACADM
44lactate458.6ACADM, OTC, PCK2, PC
45glucose458.5ACADM, OTC, PCK2, PC
46carnitine458.2ACADS, ACADM, OTC, PCK2, PC
47acyl-coa458.2PC, PCK2, OTC, ACADM, ACADS
48fatty acid458.2PC, PCK2, OTC, ACADM, ACADS
49lipid458.2PC, PCK2, OTC, ACADM, ACADS
50glutamate457.6PC, PCK2, OTC, ACADM, ACADS, ASS1

GO Terms for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057397.7PCK2, OTC, ACADM, ACADS, PC
2mitochondrial matrixGO:0057597.4ACADS, ACADM, OTC, PCK2, PC

Biological processes related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.6ASS1, OTC
2urea cycleGO:0000509.5OTC, ASS1
3glucose metabolic processGO:0060069.4PCK2, PC
4fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.4ACADS, ACADM
5gluconeogenesisGO:0060949.3PC, PCK2
6response to starvationGO:0425949.3ACADS, ACADM
7fatty acid beta-oxidationGO:0066359.2ACADS, ACADM
8liver developmentGO:0018898.9ACADM, OTC
9small molecule metabolic processGO:0442817.3ASS1, PC, PCK2, OTC, ACADM, ACADS

Molecular functions related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.2ACADS, ACADM
2acyl-CoA dehydrogenase activityGO:0039958.9ACADS, ACADM

Products for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short-Chain Acyl-Coa Dehydrogenase Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet