MCID: AGT001
MIFTS: 42

Agat Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Agat Deficiency

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 32MalaCards
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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 creatine deficiency syndromes and myopathy. 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:46 612718

Aliases & Classifications for Agat Deficiency

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
arginine:glycine amidinotransferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

agat deficiency 8 9 42 21 10
arginine:glycine amidinotransferase deficiency 8 42 22 21 48
l-arginine:glycine amidinotransferase deficiency 42 20 21
cerebral creatine deficiency syndrome 3 8 46
creatine deficiency syndrome due to agat deficiency 21
gatm deficiency 21


External Ids:

Disease Ontology8 DOID:0050712
OMIM46 612718
ICD10 via Orphanet26 E72.8

Related Diseases for Agat Deficiency

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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
1creatine deficiency syndromes30.1GAMT, GATM, SLC6A8
2myopathy10.1
3epilepsy syndrome10.0GAMT, SLC6A8
4intellectual disability10.0GAMT, SLC6A8
5mental retardation10.0GAMT, GATM, SLC6A8

Graphical network of diseases related to Agat Deficiency:



Diseases related to agat deficiency

Clinical Features for Agat Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

612718

Clinical synopsis from OMIM:

612718

Drugs & Therapeutics for Agat Deficiency

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Agat Deficiency:

32
Brain

Animal Models for Agat Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Agat Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5SLC6A8, GAMT, GATM
2MP:00053768.5SLC6A8, GAMT, GATM
3MP:00053868.4SLC6A8, GAMT, GATM
4MP:00053788.2GATM, GAMT, SLC6A8

Publications for Agat Deficiency

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Agat Deficiency:

62
id Symbol AA change Variation ID SNP ID
1GATMp.Tyr203SerVAR_069816

Expression for genes affiliated with Agat Deficiency

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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

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Agat Deficiency according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Agat Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Agat Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ornithine44 2410.0GAMT, GATM
2guanidinoacetate448.6SLC6A8, GAMT, GATM
3Creatine11 249.5SLC6A8, GAMT, GATM
4creatinine448.4GATM, GAMT, SLC6A8
5arginine448.2SLC6A8, GAMT, GATM

GO Terms for genes affiliated with Agat Deficiency

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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:0069368.8SLC6A8, GAMT
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Agat Deficiency

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet