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MCID: LRG010
MIFTS: 17

L-Arginine:glycine Amidinotransferase Deficiency

Categories: Rare diseases
Genes Tissues Related diseases Publications Drugs
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Aliases & Classifications for L-Arginine:glycine Amidinotransferase Deficiency

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MalaCards integrated aliases for L-Arginine:glycine Amidinotransferase Deficiency:

Name: L-Arginine:glycine Amidinotransferase Deficiency 53
Arginine:glycine Amidinotransferase Deficiency 53 73
Creatine Deficiency Syndrome Due to Agat Deficiency 53
L-Arginine:glycine Amidinotransferase 13
Agat Deficiency 53
Gatm Deficiency 53

Classifications:

MalaCards categories:
Global: Rare diseases
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External Ids:

UMLS 73 C2675179
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Summaries for L-Arginine:glycine Amidinotransferase Deficiency

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NIH Rare Diseases : 53 L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate.

MalaCards based summary : L-Arginine:glycine Amidinotransferase Deficiency, also known as arginine:glycine amidinotransferase deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 1. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase). The drugs Creatine and Glycine have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney.

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Related Diseases for L-Arginine:glycine Amidinotransferase Deficiency

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Diseases related to L-Arginine:glycine Amidinotransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 12.2
2 cerebral creatine deficiency syndrome 1 11.3
3 pancreatic ductal adenocarcinoma 10.7
4 renal oncocytoma 10.7
5 polycystic kidney disease 10.7
6 myopathy 10.0

Graphical network of the top 20 diseases related to L-Arginine:glycine Amidinotransferase Deficiency:



Diseases related to L-Arginine:glycine Amidinotransferase Deficiency
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Symptoms & Phenotypes for L-Arginine:glycine Amidinotransferase Deficiency

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Drugs & Therapeutics for L-Arginine:glycine Amidinotransferase Deficiency

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Drugs for L-Arginine:glycine Amidinotransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
2
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
3 arginine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for L-Arginine:glycine Amidinotransferase Deficiency

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Genetic Tests for L-Arginine:glycine Amidinotransferase Deficiency

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Anatomical Context for L-Arginine:glycine Amidinotransferase Deficiency

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MalaCards organs/tissues related to L-Arginine:glycine Amidinotransferase Deficiency:

41
Brain, Kidney
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Publications for L-Arginine:glycine Amidinotransferase Deficiency

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Articles related to L-Arginine:glycine Amidinotransferase Deficiency:

# Title Authors Year
1
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( 28148286 )
2017
2
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ( 23026748 )
2013
3
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. ( 22386973 )
2012
4
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. ( 20625172 )
2010
5
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ( 12709373 )
2003
6
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( 11555793 )
2001
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Variations for L-Arginine:glycine Amidinotransferase Deficiency

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Expression for L-Arginine:glycine Amidinotransferase Deficiency

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Search GEO for disease gene expression data for L-Arginine:glycine Amidinotransferase Deficiency.
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Pathways for L-Arginine:glycine Amidinotransferase Deficiency

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GO Terms for L-Arginine:glycine Amidinotransferase Deficiency

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Sources for L-Arginine:glycine Amidinotransferase Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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