Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Language Development Disorders (D007805)
Parent Node: Movement Disorders (D009069)
..Starting node ..Guanidinoacetate methyltransferase deficiency (C537622)
Child Nodes:
Sister Nodes:
..Akathisia, Drug-Induced (D017109)
..Angelman Syndrome (D017204) 1
..Beta-Ureidopropionase Deficiency (C563210)
..Dyskinesias (D020820) 199
..Dystonic Disorders (D020821) 31
..Essential Tremor (D020329) 3
..Guanidinoacetate methyltransferase deficiency (C537622)
..Hepatolenticular Degeneration (D006527) 2
..Multiple System Atrophy (D019578) 21
..Non-lissencephalic cortical dysplasia (C536243)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Pronation-Supination Of The Forearm, Impairment Of (C566757)
..Supranuclear Palsy, Progressive (D013494) 5
..Telfer Sugar Jaeger syndrome (C536955)
..Tic Disorders (D013981) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4845

Name:

Guanidinoacetate methyltransferase deficiency

Definition:

Alternative IDs:

OMIM:612736

ParentIDs:

MESH:D007805|MESH:D009069

TreeNumbers:

C10.228.662/C537622 |C10.597.606.150.500.550/C537622 |C23.888.592.604.150.500.550/C537622

Synonyms:

CCDS2 |CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |Creatine Deficiency Syndrome Due To Gamt Deficiency |GAMT Deficiency |GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C537622
MeSH: C537622
OMIM: 612736;

Genes: GAMT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0000750	Delayed speech and language development
4	HP:0001263	Global developmental delay
5	HP:0001347	Hyperreflexia
6	HP:0001276	Hypertonia
7	HP:0008947	Infantile muscular hypotonia
8	HP:0001249	Intellectual disability
9	HP:0001336	Myoclonus
10	HP:0007153	Progressive extrapyramidal movement disorder
11	HP:0001250	Seizure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000156.5(GAMT):c.626C>T (p.Thr209Met)	2593	GAMT	Benign;Likely benign	17851582	RCV000020144; RCV000117117;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003; MedGen:CN169374	19	1397443	1397443	NM_000156.5:c.626C>T	NP_000147.1:p.Thr209Met	NC_000019.9:g.1397443G>A	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase; CN169374 not specified
NM_000156.5(GAMT):c.506G>A (p.Cys169Tyr)	2593	GAMT	Pathogenic	121909272	RCV000008802;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1398979	1398979	NM_000156.5:c.506G>A	NP_000147.1:p.Cys169Tyr	NC_000019.9:g.1398979C>T	OMIM Allelic Variant:601240.0004	C0574080 612736 Deficiency of guanidinoacetate methyltransferase
NM_000156.5(GAMT):c.460-31G>A	2593	GAMT	Benign	55776826	RCV000020143;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1399056	1399056	NM_000156.5:c.460-31G>A		NC_000019.9:g.1399056C>T	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase
NM_000156.5(GAMT):c.438A>G (p.Thr146=)	2593	GAMT	Benign	80338733	RCV000020142;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1399148	1399148	NM_000156.5:c.438A>G	NP_000147.1:p.Thr146=	NC_000019.9:g.1399148T>C	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase
NM_000156.5(GAMT):c.327G>A (p.Lys109=)	2593	GAMT	Pathogenic	80338735	RCV000020141; RCV000187564;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003; MedGen:CN221809	19	1399792	1399792	NM_000156.5:c.327G>A	NP_000147.1:p.Lys109=	NC_000019.9:g.1399792C>T	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase; CN221809 not provided
NM_000156.5(GAMT):c.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs)	2593	GAMT	Pathogenic	80338736	RCV000008800;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1399810	1399822	NM_000156.5:c.299_311dupGGGACTGGGCCCC	NP_000147.1:p.Arg105Glyfs	NC_000019.9:g.1399810_1399822dupGGCCCAGTCCCGG	OMIM Allelic Variant:601240.0002	C0574080 612736 Deficiency of guanidinoacetate methyltransferase
NM_000156.5(GAMT):c.148A>C (p.Met50Leu)	2593	GAMT	Pathogenic	104894694	RCV000008803;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1401328	1401328	NM_000156.5:c.148A>C	NP_000147.1:p.Met50Leu	NC_000019.9:g.1401328T>G	OMIM Allelic Variant:601240.0005	C0574080 612736 Deficiency of guanidinoacetate methyltransferase
NM_000156.5(GAMT):c.59G>C (p.Trp20Ser)	2593	GAMT	Pathogenic	80338734	RCV000008801;	N	MedGen:C0574080,OMIM:612736,ORPHA:382,SNOMED CT:124239003	19	1401417	1401417	NM_000156.5:c.59G>C	NP_000147.1:p.Trp20Ser	NC_000019.9:g.1401417C>G	OMIM Allelic Variant:601240.0003	C0574080 612736 Deficiency of guanidinoacetate methyltransferase