MCID: AMN002
MIFTS: 27

Amino Acid Metabolic Disorder malady

Metabolic diseases category
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Summaries for Amino Acid Metabolic Disorder

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

MalaCards based summary: Amino Acid Metabolic Disorder, also known as disorder 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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Amino Acid Metabolic Disorder, Aliases & Descriptions:

Name: Amino Acid Metabolic Disorder 8
Disorder of Amino Acid Metabolism 22 62
 
Inborn Errors of Amino Acid Metabolism 8
Amino Acid Metabolism, Inborn Errors 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:9252
ICD9CM27 270.9, 270
MeSH34 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/GeneDecks gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria10.5
2inborn amino acid metabolism disorder10.5
3hereditary ataxia10.4
4ataxia10.4
5molybdenum cofactor deficiency a10.4
6creatine transporter deficiency10.4
7d-2-hydroxyglutaric aciduria10.4
8l-2-hydroxyglutaric aciduria10.4
9guanidinoacetate methyltransferase deficiency10.4
10psat deficiency10.4
11phgdh deficiency10.4
12psph deficiency10.4
13homocarnosinosis10.4
14gaba aminotransferase deficiency10.4
15succinic semialdehyde dehydrogenase deficiency10.4
165-oxoprolinase deficiency10.4
17aminoacylase 1 deficiency10.4
18glutamine deficiency, congenital10.4
19glutathionuria10.4
20hyperinsulinism-hyperammonemia syndrome10.4
21malonyl-coa decarboxylase deficiency10.4
22prolidase deficiency10.4
2317-beta-hydroxysteroid dehydrogenase x deficiency10.4
24combined d-2- and l-2-hydroxyglutaric aciduria10.4
25pellagra-like skin rash - neurological manifestations10.4
26hsd10 disease, infantile type10.4
27hsd10 disease, neonatal type10.4
28hartnup disease10.3
29urea cycle disorder10.3
30argininosuccinic aciduria10.3
31glycine encephalopathy10.3
32alkaptonuria10.3
33hyperlysinemia10.3
34carbamoyl phosphate synthetase i deficiency disease10.3
35hypermethioninemia10.3
36ornithine translocase deficiency10.3
37methylmalonic aciduria and homocystinuria type cblf10.3
38homocystinuria, cbld type, variant 110.3
39homocystinuria-megaloblastic anemia, cbl e type10.3
40histidinemia10.2
41speech disorder10.2
42aminoaciduria10.2
43ornithine carbamoyltransferase deficiency10.2
44phenylketonuria10.2
45tyrosinemia type i10.2
46systemic primary carnitine deficiency disease10.2
47oculocerebrorenal syndrome10.2
48homocystinuria10.2
49hyperhomocysteinemia10.2
50hyperargininemia10.2

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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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

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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

Sources for Amino Acid Metabolic Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet