L-Arginine:glycine Amidinotransferase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LRG010 MIFTS: 17	L-Arginine:glycine Amidinotransferase Deficiency Categories: Rare diseases
Genes Variations Related diseases Publications Expand all tables

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Aliases & Classifications for L-Arginine:glycine Amidinotransferase Deficiency

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

Name: L-Arginine:glycine Amidinotransferase Deficiency ²⁰ ⁶

Arginine:glycine Amidinotransferase Deficiency ²⁰ ⁷¹

Creatine Deficiency Syndrome Due to Agat Deficiency ²⁰

Agat Deficiency ²⁰

Gatm Deficiency ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C2675179

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Summaries for L-Arginine:glycine Amidinotransferase Deficiency

GARD : ²⁰ 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. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase).

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Related Diseases for L-Arginine:glycine Amidinotransferase Deficiency

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

#	Related Disease	Score
1	cerebral creatine deficiency syndrome 3	11.6
2	cerebral creatine deficiency syndrome	11.3
3	creatine deficiency syndromes	10.3
4	hypotonia	10.2
5	myopathy	10.1
6	homocysteinemia	10.0
7	alacrima, achalasia, and mental retardation syndrome	10.0
8	inherited metabolic disorder	10.0

Graphical network of the top 20 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

Search Clinical Trials , 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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Publications for L-Arginine:glycine Amidinotransferase Deficiency

Articles related to L-Arginine:glycine Amidinotransferase Deficiency:

(show all 16)

#	Title	Authors	PMID	Year
1	Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. ⁶ ⁶¹	Ndika JD...Salomons GS	22386973	2012
2	Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. ⁶¹ ⁶	Verma A	20625172	2010
3	Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ⁶ ⁶¹	Item CB...Cioni G	11555793	2001
4	Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. ⁶	Nouioua S...Tazir M	23770102	2013
5	Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ⁶	Comeaux MS...Wong LJ	23660394	2013
6	l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. ⁶	Edvardson S...Katz-Brull R	20682460	2010
7	Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. ⁶	Battini R...Cioni G	12468279	2002
8	Reversible brain creatine deficiency in two sisters with normal blood creatine level. ⁶	Bianchi MC...Canapicchi R	10762163	2000
9	Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ⁶¹	Jensen M...Choe CU	32182846	2020
10	Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ⁶¹	Battini R...Cioni G	28148286	2017
11	L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ⁶¹	Choe CU...Isbrandt D	23026748	2013
12	Creatine metabolism in urea cycle defects. ⁶¹	Boenzi S...Dionisi-Vici C	22644604	2012
13	Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ⁶¹	Stockler S...Salomons GS	18652076	2007
14	Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. ⁶¹	Battini R...Cioni G	16769397	2006
15	Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ⁶¹	Verhoeven NM...Jakobs C	12709373	2003
16	Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. ⁶¹	Leuzzi V	12597058	2002

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Genes for L-Arginine:glycine Amidinotransferase Deficiency

Genes related to L-Arginine:glycine Amidinotransferase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GATM	Glycine Amidinotransferase	Protein Coding	407.61	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)	10762163 11555793 12468279

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Variations for L-Arginine:glycine Amidinotransferase Deficiency

ClinVar genetic disease variations for L-Arginine:glycine Amidinotransferase Deficiency:

⁶ (show top 50) (show all 109)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GATM	NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	SNV	Pathogenic	7302	rs80338737	15:45661562-45661562	15:45369364-45369364
2	GATM	NM_001482.3(GATM):c.484+1G>T	SNV	Pathogenic	21299	rs80338738	15:45661523-45661523	15:45369325-45369325
3	GATM	NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	SNV	Pathogenic	55919	rs397514708	15:45660438-45660438	15:45368240-45368240
4	GATM	NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)	SNV	Pathogenic	55921	rs397514709	15:45660335-45660335	15:45368137-45368137
5	GATM	NM_001482.3(GATM):c.216G>A (p.Trp72Ter)	SNV	Pathogenic	572733	rs1566842679	15:45668871-45668871	15:45376673-45376673
6	GATM	NM_001482.3(GATM):c.959del (p.Pro320fs)	Deletion	Pathogenic	955458		15:45658263-45658263	15:45366065-45366065
7	GATM	NM_001482.3(GATM):c.1111dup (p.Met371fs)	Duplication	Pathogenic	55918	rs397515542	15:45656145-45656146	15:45363947-45363948
8	GATM	NM_001482.3(GATM):c.407C>T (p.Thr136Met)	SNV	Conflicting interpretations of pathogenicity	205613	rs148564534	15:45661601-45661601	15:45369403-45369403
9	GATM	NM_001482.3(GATM):c.1041C>T (p.Asp347=)	SNV	Conflicting interpretations of pathogenicity	137450	rs139599307	15:45656996-45656996	15:45364798-45364798
10	GATM	NM_001482.3(GATM):c.511A>T (p.Ile171Phe)	SNV	Uncertain significance	469139	rs747203599	15:45660432-45660432	15:45368234-45368234
11	GATM	NM_001321015.2(GATM):c.-319+1757C>T	SNV	Uncertain significance	316216	rs745765661	15:45670925-45670925	15:45378727-45378727
12	GATM	NM_001482.3(GATM):c.-72C>T	SNV	Uncertain significance	316213	rs886051203	15:45670723-45670723	15:45378525-45378525
13	GATM	NM_001482.3(GATM):c.654G>A (p.Met218Ile)	SNV	Uncertain significance	469141	rs1555384217	15:45660289-45660289	15:45368091-45368091
14	GATM	NM_001482.3(GATM):c.581G>A (p.Arg194Gln)	SNV	Uncertain significance	536983	rs774017569	15:45660362-45660362	15:45368164-45368164
15	GATM	NM_001482.3(GATM):c.845G>A (p.Arg282His)	SNV	Uncertain significance	225918	rs371447931	15:45658377-45658377	15:45366179-45366179
16	GATM	NM_001482.3(GATM):c.710A>G (p.Lys237Arg)	SNV	Uncertain significance	536984	rs764877849	15:45658672-45658672	15:45366474-45366474
17	GATM	NM_001482.3(GATM):c.1106G>A (p.Arg369His)	SNV	Uncertain significance	498635	rs747557239	15:45656151-45656151	15:45363953-45363953
18	GATM	NM_001321015.2(GATM):c.-318-1805T>C	SNV	Uncertain significance	316214	rs886051204	15:45670822-45670822	15:45378624-45378624
19	GATM	NM_001482.3(GATM):c.69+13C>T	SNV	Uncertain significance	137454	rs573273215	15:45670570-45670570	15:45378372-45378372
20	GATM	NM_001482.3(GATM):c.*27C>G	SNV	Uncertain significance	316209	rs200143728	15:45654280-45654280	15:45362082-45362082
21	GATM	NM_001482.3(GATM):c.222C>T (p.Pro74=)	SNV	Uncertain significance	316212	rs774485349	15:45668865-45668865	15:45376667-45376667
22	GATM	NM_001482.3(GATM):c.1159G>C (p.Gly387Arg)	SNV	Uncertain significance	316211	rs886051202	15:45656098-45656098	15:45363900-45363900
23	GATM	NM_001482.3(GATM):c.*699A>C	SNV	Uncertain significance	316205	rs750817737	15:45653608-45653608	15:45361410-45361410
24	GATM	NM_001482.3(GATM):c.1159+14A>G	SNV	Uncertain significance	316210	rs368974196	15:45656084-45656084	15:45363886-45363886
25	GATM	NM_001482.3(GATM):c.*104A>G	SNV	Uncertain significance	316208	rs886051201	15:45654203-45654203	15:45362005-45362005
26	GATM	NM_001482.3(GATM):c.724G>A (p.Gly242Arg)	SNV	Uncertain significance	575063	rs1236954285	15:45658658-45658658	15:45366460-45366460
27	GATM	NM_001482.3(GATM):c.37G>A (p.Gly13Ser)	SNV	Uncertain significance	578428	rs1566843333	15:45670615-45670615	15:45378417-45378417
28	SLC28A2-AS1	NC_000015.9:g.(?_45152372)_(45670671_?)dup	Duplication	Uncertain significance	584325		15:45152372-45670671	15:44860174-45378473
29	GATM	NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)	SNV	Uncertain significance	625953	rs768171759	15:45654348-45654348	15:45362150-45362150
30	GATM	NM_001482.3(GATM):c.692C>G (p.Ser231Cys)	SNV	Uncertain significance	205616	rs202225656	15:45658690-45658690	15:45366492-45366492
31	GATM	NM_001482.3(GATM):c.591G>T (p.Arg197Ser)	SNV	Uncertain significance	646168	rs1167013064	15:45660352-45660352	15:45368154-45368154
32	GATM	NM_001482.3(GATM):c.1030A>G (p.Ile344Val)	SNV	Uncertain significance	205608	rs747608698	15:45657007-45657007	15:45364809-45364809
33	GATM	NM_001482.3(GATM):c.395A>G (p.Asn132Ser)	SNV	Uncertain significance	648568	rs759658712	15:45661613-45661613	15:45369415-45369415
34	GATM	NM_001482.3(GATM):c.844C>T (p.Arg282Cys)	SNV	Uncertain significance	198134	rs766583032	15:45658378-45658378	15:45366180-45366180
35	GATM	NM_001482.3(GATM):c.1085T>C (p.Val362Ala)	SNV	Uncertain significance	651345	rs1479969521	15:45656172-45656172	15:45363974-45363974
36	GATM	NM_001482.3(GATM):c.603A>C (p.Lys201Asn)	SNV	Uncertain significance	651610	rs748600834	15:45660340-45660340	15:45368142-45368142
37	GATM	NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)	SNV	Uncertain significance	225921	rs374592247	15:45654335-45654335	15:45362137-45362137
38	GATM	NM_001482.3(GATM):c.1162A>G (p.Ile388Val)	SNV	Uncertain significance	654184	rs1170650328	15:45654417-45654417	15:45362219-45362219
39	GATM	NM_001482.3(GATM):c.565C>T (p.Arg189Cys)	SNV	Uncertain significance	225915	rs377578020	15:45660378-45660378	15:45368180-45368180
40	GATM	NM_001482.3(GATM):c.7C>G (p.Arg3Gly)	SNV	Uncertain significance	205621	rs796052538	15:45670645-45670645	15:45378447-45378447
41	GATM	NM_001482.3(GATM):c.1043-3T>C	SNV	Uncertain significance	587965	rs772985563	15:45656217-45656217	15:45364019-45364019
42	GATM	NM_001482.3(GATM):c.245G>A (p.Arg82Lys)	SNV	Uncertain significance	663209	rs1595485790	15:45668842-45668842	15:45376644-45376644
43	GATM	NM_001482.3(GATM):c.484+3A>G	SNV	Uncertain significance	665825	rs1595483673	15:45661521-45661521	15:45369323-45369323
44	GATM	NC_000015.10:g.(?_45362089)_(45378473_?)dup	Duplication	Uncertain significance	831368		15:45654287-45670671
45	GATM	NM_001482.3(GATM):c.644A>G (p.Lys215Arg)	SNV	Uncertain significance	836244		15:45660299-45660299	15:45368101-45368101
46	GATM	NM_001482.3(GATM):c.913_918del (p.Asp305_Ala306del)	Deletion	Uncertain significance	837593		15:45658304-45658309	15:45366106-45366111
47	GATM	NM_001482.3(GATM):c.217G>A (p.Asp73Asn)	SNV	Uncertain significance	838032		15:45668870-45668870	15:45376672-45376672
48	GATM	NM_001482.3(GATM):c.483G>A (p.Thr161=)	SNV	Uncertain significance	839361		15:45661525-45661525	15:45369327-45369327
49	GATM	NM_001482.3(GATM):c.350A>G (p.Lys117Arg)	SNV	Uncertain significance	843867		15:45661658-45661658	15:45369460-45369460
50	GATM	NM_001482.3(GATM):c.946G>A (p.Val316Met)	SNV	Uncertain significance	844029		15:45658276-45658276	15:45366078-45366078

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Expression for L-Arginine:glycine Amidinotransferase Deficiency

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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