Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

American journal of human genetics - 9 Mar 2012

Tuschl Karin, Clayton Peter T, Gospe Sidney M, Gulab Shamshad, Ibrahim Shahnaz, Singhi Pratibha, Aulakh Roosy, Ribeiro Reinaldo T, Barsottini Orlando G, Zaki Maha S, Del Rosario Maria Luz, Dyack Sarah, Price Victoria, Rideout Andrea, Gordon Kevin, Wevers Ron A, Chong W K Kling, Mills Philippa B

Abstract excerpt

Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia in cases without environmental Mn exposure. Whole-genome mapping of two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cation Transport Proteins
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Manganese

Share to Metabolic Diseases

Share to Mutation, Missense

Share to Sequence Alignment

Share to Zinc Transporter 8

Source

Open in PubMed Open full text

Identifiers

PMID: 22341972
DOI: 10.1016/j.ajhg.2012.01.018
PMCID: PMC3309187

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.PMID 22341972Read ↗

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.Semantic proximity Read ↗

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.Semantic proximity Read ↗

Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia.Semantic proximity Read ↗

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.Semantic proximity Read ↗

Manganese Neurotoxicity: A Comprehensive Review of Pathophysiology and Inherited and Acquired DisordersSemantic proximity Read ↗

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.Semantic proximity Read ↗

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.Semantic proximity Read ↗

Identification of a putative founder variant in SLC30A10 associated with hypermanganesemia with dystonia 1 in Iranian patients: a case series and literature reviewSemantic proximity Read ↗

Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.Semantic proximity Read ↗

Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.Semantic proximity Read ↗

Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations.Semantic proximity Read ↗

Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.