MCID: AMN002
MIFTS: 22

Amino Acid Metabolic Disorder malady

Metabolic diseases category

Summaries for Amino Acid Metabolic Disorder

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Disease Ontology:9 An inherited metabolic disorders which impair the synthesis and degradation of amino acids.

MalaCards based summary: 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

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Amino Acid Metabolic Disorder, Aliases & Descriptions:

Name: Amino Acid Metabolic Disorder 9
Inborn Errors of Amino Acid Metabolism 9
 
Amino Acid Metabolism, Inborn Errors 60
Disorder of Amino Acid Metabolism 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology9 DOID:9252
ICD9CM27 270, 270.9
MeSH33 D000592
ICD1025 E72, E72.8

Related Diseases for Amino Acid Metabolic Disorder

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Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1inborn amino acid metabolism disorder10.5
2hereditary ataxia10.4
3ataxia10.4
4glutamine deficiency, congenital10.4
5aminoacylase 1 deficiency10.4
6succinic semialdehyde dehydrogenase deficiency10.4
7phosphoserine aminotransferase deficiency10.4
8l-2-hydroxyglutaric aciduria10.4
9malonyl-coa decarboxylase deficiency10.4
10cerebral creatine deficiency syndrome 210.4
11prolidase deficiency10.4
12cerebral creatine deficiency syndrome 110.4
13d-2-hydroxyglutaric aciduria10.4
145-oxoprolinase deficiency10.4
15hyperinsulinism-hyperammonemia syndrome10.4
16gaba aminotransferase deficiency10.4
17homocarnosinosis10.4
182-methyl-3-hydroxybutyric aciduria10.4
19glutathionuria10.4
20pellagra-like skin rash - neurological manifestations10.4
21d,l-2-hydroxyglutaric aciduria10.4
22hsd10 disease, infantile type10.4
23hsd10 disease, neonatal type10.4
243-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form10.4
253-phosphoserine phosphatase deficiency10.4
26cystinuria10.3
27glycine encephalopathy10.3
28alkaptonuria10.3
29hartnup disorder10.3
30argininosuccinic aciduria10.3
31hyperlysinemia10.3
32citrullinemia10.3
33carbamoylphosphate synthetase i deficiency10.3
34hyperornithinemia-hyperammonemia-homocitrullinemia syndrome10.3
35urea cycle disorder10.3
36hyperglycinuria10.2
37histidinemia10.2
38speech disorder10.2
39aminoaciduria10.2
40hyperprolinemia, type ii10.2
41methylmalonic aciduria and homocystinuria, cblc type10.2
42cystathioninuria10.2
43homocystinuria-megaloblastic anemia, cblg complementation type10.2
44hypotonia-cystinuria syndrome10.2
45dimethylglycine dehydrogenase deficiency10.2
46carnitine deficiency, systemic primary10.2
47methylmalonic aciduria and homocystinuria, cblf type10.2
48argininemia10.2
49saccharopinuria10.2
50dicarboxylic aminoaciduria10.2

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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Drug clinical trials:

Search ClinicalTrials for Amino Acid Metabolic Disorder

Search NIH Clinical Center for Amino Acid Metabolic Disorder

Genetic Tests for Amino Acid Metabolic Disorder

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Genetic tests related to Amino Acid Metabolic Disorder:

id Genetic test Affiliating Genes
1 Disorder of Amino Acid Metabolism22

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

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
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amino Acid Metabolic Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet