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 |
|
|
|
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 |
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 |
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 |
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 |
Dystonia
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
|
22926781 |
2012 |
Dystonia
|
0.450 |
Biomarker
|
phenotype |
CTD_human |
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
|
22926781 |
2012 |
Dystonia
|
0.450 |
Biomarker
|
phenotype |
HPO |
|
|
|
Parkinsonian Disorders
|
0.430 |
GeneticVariation
|
group |
BEFREE |
SLC30A10 Mutation Involved in Parkinsonism Results in Manganese Accumulation within Nanovesicles of the Golgi Apparatus.
|
30272946 |
2019 |
Parkinsonian Disorders
|
0.430 |
Biomarker
|
group |
CTD_human |
Manganese-Induced Parkinsonism Is Not Idiopathic Parkinson's Disease: Environmental and Genetic Evidence.
|
26220508 |
2015 |
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 |