Details of Disease | DrugMAP

General Information of Disease (ID: DIS7L5S0)

Disease Name	Guanidinoacetate methyltransferase deficiency
Synonyms	CCDS2; creatine deficiency syndrome due to GAMT deficiency; GAMT deficiency; disorder of guanidinoacetate N-methyltransferase activity; guanidinoacetate methyltransferase deficiency; cerebral creatine deficiency syndrome type 2; cerebral creatine deficiency syndrome 2; guanidinoacetate N-methyltransferase activity disease
Definition	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Disease Hierarchy	DISQDMKF: Cerebral creatine deficiency syndrome DISBXEIJ: Creatine biosynthetic process disease DISWD40R: Disease DIS7L5S0: Guanidinoacetate methyltransferase deficiency
Disease Identifiers	MONDO ID MONDO_0012999 MESH ID C537622 UMLS CUI C0574080 OMIM ID 612736 MedGen ID 154356 Orphanet ID 382 SNOMED CT ID 124239003

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 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GAMT	OTVC87ES	Definitive	Autosomal recessive	[2]
GATM	OTIJ4Z11	Definitive	Biomarker	[3]
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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.
3	Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency.Neurosci Lett. 2018 Feb 5;665:217-223. doi: 10.1016/j.neulet.2017.12.020. Epub 2017 Dec 8.