Details of Disease | DrugMAP

General Information of Disease (ID: DISS7IGD)

Disease Name	AGAT deficiency
Synonyms	arginine:glycine amidinotransferase deficiency; creatine deficiency syndrome due to AGAT deficiency; L-arginine:glycine amidinotransferase deficiency; AGAT deficiency; glycine amidinotransferase activity disease; CCDS3; cerebral creatine deficiency syndrome type 3; cerebral creatine deficiency syndrome 3; GATM deficiency; disorder of glycine amidinotransferase activity
Definition	L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
Disease Hierarchy	DISQDMKF: Cerebral creatine deficiency syndrome DISBXEIJ: Creatine biosynthetic process disease DISWD40R: Disease DISS7IGD: AGAT deficiency
Disease Identifiers	MONDO ID MONDO_0012996 MESH ID C567192 UMLS CUI C2675179 OMIM ID 612718 MedGen ID 436367 Orphanet ID 35704 SNOMED CT ID 702440000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A8	TTYUHB5	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATM	OTIJ4Z11	Definitive	Autosomal recessive	[2]
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References

1	Disorders of creatine transport and metabolism.Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.