MCID: LRG010
MIFTS: 17

L-Arginine:glycine Amidinotransferase Deficiency

Categories: Rare diseases

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:



External Ids:

UMLS 71 C2675179

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).

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 Top Affiliating Genes
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:



Diseases related to L-Arginine:glycine Amidinotransferase Deficiency

Symptoms & Phenotypes for L-Arginine:glycine Amidinotransferase Deficiency

Drugs & Therapeutics for L-Arginine:glycine Amidinotransferase Deficiency

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

Genetic Tests for L-Arginine:glycine Amidinotransferase Deficiency

Anatomical Context for L-Arginine:glycine Amidinotransferase Deficiency

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
22386973 2012
2
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. 61 6
20625172 2010
3
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. 6 61
11555793 2001
4
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. 6
23770102 2013
5
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 6
23660394 2013
6
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. 6
20682460 2010
7
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. 6
12468279 2002
8
Reversible brain creatine deficiency in two sisters with normal blood creatine level. 6
10762163 2000
9
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. 61
32182846 2020
10
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. 61
28148286 2017
11
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. 61
23026748 2013
12
Creatine metabolism in urea cycle defects. 61
22644604 2012
13
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. 61
18652076 2007
14
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. 61
16769397 2006
15
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. 61
12709373 2003
16
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. 61
12597058 2002

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

Expression for L-Arginine:glycine Amidinotransferase Deficiency

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Pathways for L-Arginine:glycine Amidinotransferase Deficiency

GO Terms for L-Arginine:glycine Amidinotransferase Deficiency

Sources for L-Arginine:glycine Amidinotransferase Deficiency

3 CDC
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