Speech Delay
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The second patient with guanidinoacetate methyltransferase (GAMT) deficiency had an unknown motor and speech delay as the striking manifestation and molecular assay revealed a novel homozygote variant of "c.134G > A; p.Trp45*" in the first exon of GAMT gene.
|
31222513 |
2019 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation.
|
28808834 |
2017 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
AlteredExpression
|
disease |
BEFREE |
Biochemical investigations including GAA, creatine and GAMT enzyme activity measurements are essential to confirm the diagnosis of GAMT deficiency.
|
26319512 |
2016 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
|
26003046 |
2015 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
|
24268530 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
|
24268530 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.
|
24415674 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
Biomarker
|
disease |
CLINGEN |
The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.
|
24415674 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
AlteredExpression
|
disease |
BEFREE |
The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.
|
24415674 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.
|
24415674 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
|
24268530 |
2014 |
Seizures
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
|
24268530 |
2014 |
Dystonia
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
|
24268530 |
2014 |
Creatine deficiency, X-linked
|
0.110 |
Biomarker
|
disease |
BEFREE |
Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8].
|
25192512 |
2014 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
|
23660394 |
2013 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
|
23660394 |
2013 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
|
24071436 |
2013 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
|
23583224 |
2013 |
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Through summarizing and comparing the roles of wild-type TP53 and mutant TP53 in the progression of various types of cancer, we hypothesize that mutant TP53 in HGS-OvCa cells interacts with sterol regulatory element-binding proteins (SREBPs) and guanidinoacetate N-methyltransferase (GAMT), leading to increased gene expression of key enzymes involved in fatty acids (FAs) and cholesterol biosynthesis and the inhibition of fatty acid oxidation (FAO), thus promotes lipid anabolism to accelerate tumor growth and progression.
|
23880140 |
2013 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
|
19027335 |
2009 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
|
19388150 |
2009 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
|
17336114 |
2007 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.
|
17466557 |
2007 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
|
17171576 |
2007 |
Guanidinoacetate methyltransferase deficiency
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.
|
17466557 |
2007 |