MCID: AMN002
MIFTS: 18

Amino Acid Metabolic Disorder malady

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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 cystinuria and inborn amino acid metabolism disorder. An important gene associated with Amino Acid Metabolic Disorder is OTC (ornithine carbamoyltransferase).

Aliases & Classifications for Amino Acid Metabolic Disorder

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8Disease Ontology, 62UMLS, 27ICD9CM, 58SNOMED-CT, 35MeSH
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Aliases & Descriptions:

amino acid metabolic disorder 8
inborn errors of amino acid metabolism 8
amino acid metabolism, inborn errors 62


External Ids:

Disease Ontology8 DOID:9252
ICD9CM27 270.9, 270
MeSH35 D000592

Related Diseases for Amino Acid Metabolic Disorder

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17GeneCards, 18GeneDecks
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Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria10.5
2inborn amino acid metabolism disorder10.5
3hereditary ataxia10.4
4ataxia10.4
5molybdenum cofactor deficiency a10.4
6hartnup disease10.3
7glycine encephalopathy10.3
8hyperlysinemia10.3
9alkaptonuria10.3
10citrullinemia10.3
11carbamoyl phosphate synthetase i deficiency disease10.3
12argininosuccinic aciduria10.3
13hypermethioninemia10.3
14ornithine translocase deficiency10.3
15methylmalonic aciduria and homocystinuria type cblf10.3
16urea cycle disorder10.3
17homocystinuria, cbld type, variant 110.3
18homocystinuria-megaloblastic anemia, cbl e type10.3
19oculocerebrorenal syndrome10.2
20homocystinuria10.2
21ornithine carbamoyltransferase deficiency10.2
22hyperhomocysteinemia10.2
23hyperargininemia10.2
24phenylketonuria10.2
25tyrosinemia type iii10.2
26tyrosinemia type i10.2
27tyrosinemia type ii10.2
28methylmalonic aciduria and homocystinuria type cblc10.2
29agat deficiency10.2
303-methylcrotonyl-coa carboxylase deficiency10.2
31systemic primary carnitine deficiency disease10.2
322-hydroxyglutaric aciduria10.2
33gamma-amino butyric acid metabolism disorder10.2
34histidine metabolism disease10.2
35multiple carboxylase deficiency10.2
36organic acidemia10.2
37serine deficiency10.2
38tyrosinemia10.2
39lysinuric protein intolerance10.2
40adult-onset citrullinemia type ii10.2
41blue diaper syndrome10.2
42cystinosis, ocular nonnephropathic10.2
43dicarboxylic aminoaciduria10.2
44gamma-cystathionase deficiency10.2
45glutaric acidemia type i10.2
46glycine n-methyltransferase deficiency10.2
47hawkinsinuria10.2
48hyperprolinemia10.2
49hyperprolinemia type 210.2
50neonatal intrahepatic cholestasis caused by citrin deficiency10.2

Graphical network of the top 20 diseases related to Amino Acid Metabolic Disorder:



Diseases related to amino acid metabolic disorder

Symptoms for Amino Acid Metabolic Disorder

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Drugs & Therapeutics for Amino Acid Metabolic Disorder

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Amino Acid Metabolic Disorder

Genetic Tests for Amino Acid Metabolic Disorder

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Anatomical Context for Amino Acid Metabolic Disorder

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Animal Models for Amino Acid Metabolic Disorder or affiliated genes

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Publications for Amino Acid Metabolic Disorder

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52PubMed
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Articles related to Amino Acid Metabolic Disorder:

idTitleAuthorsYear
1
The dibasic amino acid metabolic disorders]. (1404883)
1992

Variations for Amino Acid Metabolic Disorder

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Expression for genes affiliated with Amino Acid Metabolic Disorder

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amino Acid Metabolic Disorder

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Pathways for genes affiliated with Amino Acid Metabolic Disorder

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Compounds for genes affiliated with Amino Acid Metabolic Disorder

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GO Terms for genes affiliated with Amino Acid Metabolic Disorder

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Products for genes affiliated with Amino Acid Metabolic Disorder

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  • Antibodies
  • Proteins
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Sources for Amino Acid Metabolic Disorder

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet