MCID: AMN002
MIFTS: 18

Amino Acid Metabolic Disorder malady

Summaries for Amino Acid Metabolic Disorder

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9Disease Ontology, 34MalaCards
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Disease Ontology:9 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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9Disease Ontology, 63UMLS, 28ICD9CM, 59SNOMED-CT, 36MeSH
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Aliases & Descriptions:

amino acid metabolic disorder 9
inborn errors of amino acid metabolism 9
amino acid metabolism, inborn errors 63


External Ids:

Disease Ontology9 DOID:9252
ICD9CM28 270.9, 270
MeSH36 D000592

Related Diseases for Amino Acid Metabolic Disorder

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18GeneCards, 19GeneDecks
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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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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 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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53PubMed
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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, 16Gene 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
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Sources for Amino Acid Metabolic Disorder

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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