SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Creatine deficiency, X-linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Mutations in the coding sequence of the human creatine transporter-1 (hCRT-1/SLC6A8) gene result in a creatine transporter deficiency syndrome, which varies in its clinical manifestation from epilepsy, mental retardation, autism, development delay and motor dysfunction to gastrointestinal symptoms. 30885608 2019
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Creatine transporter deficiency (CTD) is caused by a defect in the X-linked creatine transporter SLC6A8 gene leading to severe neurologic and physiologic conditions. 31194545 2019
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease MGD A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism. 30013483 2018
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier family 6 mapped to Xq28, have been reported to cause the creatine transporter deficiency. 30400883 2018
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. 28065824 2017
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (<i>GATM</i> gene, glycine amidinotransferase), guanidinoacetate methyltransferase (<i>GAMT</i> gene), and creatine transporter deficiency (<i>SLC6A8</i> gene, solute carrier family 6 member 8). 28758966 2017
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease BEFREE In the hereditary condition where the creatine transporter is defective (creatine transporter deficiency) there is no creatine in the brain, and administration of creatine is useless lacking the transporter.The disease is severe and incurable. 26930002 2017
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease MGD Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment. 27466184 2016
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment. 27466184 2016
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE To determine carrier frequency of CRTR-D in the general population we studied the variants in the SLC6A8 gene reported in the Exome Variant Server database and performed functional characterization of missense variants. 25861866 2015
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 CausalMutation disease CLINVAR [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case]. 25803912 2015
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease BEFREE The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. 24597975 2015
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease UNIPROT To determine carrier frequency of CRTR-D in the general population we studied the variants in the SLC6A8 gene reported in the Exome Variant Server database and performed functional characterization of missense variants. 25861866 2015
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease MGD Given the importance of validating phenotypes and efficacy of promising treatments in more than one mouse model we have generated a new murine model of CCDS1 obtained by ubiquitous deletion of 5-7 exons in the Slc6a8 gene. 25485098 2014
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. 25044748 2014
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 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
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease BEFREE Creatine transporter (SLC6A8) deficiency is the most common cause of cerebral creatine syndromes, and is characterized by depletion of creatine in the brain. 24962355 2014
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8. 24045174 2014
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease BEFREE This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. 24789340 2014
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 CausalMutation disease CLINVAR Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 23644449 2013
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 CausalMutation disease CLINVAR Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 Biomarker disease BEFREE Traditional Sanger sequence analysis of all coding exons of SLC6A8 from a 3-year-old boy with creatine transporter deficiency did not detect deleterious mutations. 24140398 2013
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		1.000 GeneticVariation disease BEFREE We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). 23644449 2013