MCID: AGT001
MIFTS: 35

Agat Deficiency malady

Neuronal, Metabolic categories

Summaries for Agat Deficiency

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.

MalaCards: Agat Deficiency, also known as arginine:glycine amidinotransferase deficiency, is related to encephalomyopathy and epilepsy syndrome. An important gene associated with Agat Deficiency is GATM (glycine amidinotransferase (L-arginine:glycine amidinotransferase)), and among its related pathways are Arginine and proline metabolism and Glycine, serine and threonine metabolism. The compounds ornithine and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are adipose tissue and homeostasis/metabolism.

Disease Ontology:8 An amino acid metabolic disorder that has material basis in a mutation in the gatm gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.

Description from OMIM:47 612718

Aliases & Classifications for Agat Deficiency

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 22GTR, 49Orphanet, 47OMIM, 20GeneTests, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
arginine:glycine amidinotransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

agat deficiency 8 9 43 21 10
arginine:glycine amidinotransferase deficiency 8 43 22 21 49
l-arginine:glycine amidinotransferase deficiency 43 20 21
cerebral creatine deficiency syndrome 3 8 47
creatine deficiency syndrome due to agat deficiency 21
gatm deficiency 21


External Ids:

Disease Ontology8 DOID:0050712
OMIM47 612718
ICD10 via Orphanet26 E72.8

Related Diseases for Agat Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Agat Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1encephalomyopathy10.4
2epilepsy syndrome10.0GAMT, SLC6A8
3intellectual disability10.0GAMT, SLC6A8
4creatine deficiency syndromes10.0GAMT, GATM, SLC6A8
5mental retardation10.0GAMT, GATM, SLC6A8

Graphical network of diseases related to Agat Deficiency:



Diseases related to agat deficiency

Clinical Features for Agat Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

612718

Clinical synopsis from OMIM:

612718

Drugs & Therapeutics for Agat Deficiency

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

Search CenterWatch for Agat Deficiency

Drug clinical trials:

Search ClinicalTrials for Agat Deficiency

Search NIH Clinical Center for Agat Deficiency

Search CenterWatch for Agat Deficiency

Genetic Tests for Agat Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Agat Deficiency:

id Genetic test Affiliating Genes
1 L-arginine:glycine Amidinotransferase Deficiency20 GATM
2 Arginine:glycine Amidinotransferase Deficiency22

Anatomical Context for Agat Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Agat Deficiency:

33
Brain

Animal Models for Agat Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Agat Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5GATM, GAMT, SLC6A8
2MP:00053768.5GAMT, GATM, SLC6A8
3MP:00053868.4SLC6A8, GAMT, GATM
4MP:00053788.2SLC6A8, GATM, GAMT

Publications for Agat Deficiency

Sources:
51PubMed
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Articles related to Agat Deficiency:

idTitleAuthorsYear
1
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. (23770102)
2013
2
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. (20682460)
2010
3
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. (19879361)
2010
4
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. (18392746)
2008
5
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. (16769397)
2006
6
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. (12468279)
2002

Genetic Variations for Agat Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Agat Deficiency:

63
id Symbol AA change Variation SNP ID
1GATMp.Tyr203SerVAR_069816

Expression for genes affiliated with Agat Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Agat Deficiency

Search GEO for disease gene expression data for Agat Deficiency.

Pathways for genes affiliated with Agat Deficiency

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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Pathways related to Agat Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0GATM, GAMT
29.0GAMT, GATM
38.5SLC6A8, GAMT, GATM
4
Hide members
8.5GATM, GAMT, SLC6A8

Compounds for genes affiliated with Agat Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Agat Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ornithine45 2410.0GAMT, GATM
2guanidinoacetate458.6GATM, GAMT, SLC6A8
3Creatine11 249.5GATM, GAMT, SLC6A8
4creatinine458.4SLC6A8, GAMT, GATM
5arginine458.2SLC6A8, GATM, GAMT

GO Terms for genes affiliated with Agat Deficiency

Sources:
16Gene Ontology
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Biological processes related to Agat Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:0066019.0GAMT, GATM
2muscle contractionGO:0069368.8GAMT, SLC6A8
3creatine metabolic processGO:0066008.6SLC6A8, GAMT, GATM
4small molecule metabolic processGO:0442818.5SLC6A8, GAMT, GATM
5cellular nitrogen compound metabolic processGO:0346418.4GATM, GAMT, SLC6A8

Products for genes affiliated with Agat Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Agat Deficiency

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