MCID: AMN002
MIFTS: 18

Amino Acid Metabolic Disorder malady

Metabolic category

Summaries for Amino Acid Metabolic Disorder

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8Disease Ontology, 33MalaCards
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Disease Ontology:8 An inherited metabolic disorders which impair the synthesis and degradation of amino acids.

MalaCards: Amino Acid Metabolic Disorder, also known as inborn errors of amino acid metabolism, is related to inborn amino acid metabolism disorder and hereditary ataxia. An important gene associated with Amino Acid Metabolic Disorder is OTC (ornithine carbamoyltransferase).

Aliases & Classifications for Amino Acid Metabolic Disorder

Sources:
8Disease Ontology, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM
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Classifications:

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


Aliases & Descriptions:

amino acid metabolic disorder 8
inborn errors of amino acid metabolism 8
amino acid metabolism, inborn errors 61


External Ids:

Disease Ontology8 DOID:9252
MeSH35 D000592
ICD9CM27 270, 270.9

Related Diseases for Amino Acid Metabolic Disorder

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Amino Acid Metabolic Disorder:



Diseases related to amino acid metabolic disorder

Clinical Features for Amino Acid Metabolic Disorder

Drugs & Therapeutics for Amino Acid Metabolic Disorder

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Amino Acid Metabolic Disorder

Genetic Tests for Amino Acid Metabolic Disorder

Anatomical Context for Amino Acid Metabolic Disorder

Animal Models for Amino Acid Metabolic Disorder or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Amino Acid Metabolic Disorder

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51PubMed
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Articles related to Amino Acid Metabolic Disorder:

idTitleAuthorsYear
1
Variable column length method development strategy for amino acid analysis in serum samples of neonates with metabolic disorders. (23602643)
2013
2
HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies. (23105346)
2002
3
The dibasic amino acid metabolic disorders]. (1404883)
1992

Genetic Variations for Amino Acid Metabolic Disorder

Expression for genes affiliated with Amino Acid Metabolic Disorder

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amino Acid Metabolic Disorder

Search GEO for disease gene expression data for Amino Acid Metabolic Disorder.

Pathways for genes affiliated with Amino Acid Metabolic Disorder

Compounds for genes affiliated with Amino Acid Metabolic Disorder

GO Terms for genes affiliated with Amino Acid Metabolic Disorder

Products for genes affiliated with Amino Acid Metabolic Disorder

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amino Acid Metabolic Disorder

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