SLC30A10, solute carrier family 30 member 10, 55532

N. diseases: 120; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease GENOMICS_ENGLAND Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia. 29179235 2018
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease BEFREE Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. 29193034 2018
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease BEFREE Recent studies found that mutations in the human SLC30A10 gene, which encodes a manganese (Mn) efflux transporter, are associated with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). 28692648 2017
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease BEFREE Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 27117033 2016
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease GENOMICS_ENGLAND Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. 25778823 2015
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease UNIPROT SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. 25319704 2014
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease CTD_human Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. 22926781 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GermlineCausalMutation disease ORPHANET Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 22341972 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease UNIPROT Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease BEFREE Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 GeneticVariation disease UNIPROT Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 22341972 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease CTD_human Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 Biomarker disease GENOMICS_ENGLAND Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. 22926781 2012
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
0.740 CausalMutation disease CLINVAR
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 Biomarker phenotype BEFREE Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are characterised by manganese neurotoxicity while SLC39A8 mutations cause a congenital disorder of glycosylation type IIn due to Mn deficiency. 31089831 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 GeneticVariation phenotype BEFREE A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. 31288771 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 GeneticVariation phenotype BEFREE New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. 23757263 2013
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 Biomarker phenotype BEFREE In just over a year, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 has been identified as the cause of paroxysmal kinesigenic dystonia and other genes, such as SLC30A10 and ATP1A3, have been linked to more complicated forms of dystonia or new phenotypes. 23775978 2013
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 GeneticVariation phenotype BEFREE Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 Biomarker phenotype CTD_human Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
CUI: C0013421
Disease: Dystonia
Dystonia
0.450 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.430 GeneticVariation group BEFREE SLC30A10 Mutation Involved in Parkinsonism Results in Manganese Accumulation within Nanovesicles of the Golgi Apparatus. 30272946 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.430 Biomarker group CTD_human Manganese-Induced Parkinsonism Is Not Idiopathic Parkinson's Disease: Environmental and Genetic Evidence. 26220508 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.430 GeneticVariation group BEFREE Our results provide novel insights into the mechanisms involved in the onset of a familial form of parkinsonism and highlight the possibility of using enhanced Mn efflux as a therapeutic strategy for the potential management of Mn-induced parkinsonism, including that occurring as a result of mutations in SLC30A10. 25319704 2014