MCID: DYS031
MIFTS: 10

Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Categories: Liver diseases

Aliases & Classifications for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

MalaCards integrated aliases for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

Name: Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 24

Classifications:



Summaries for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

MalaCards based summary : Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease is related to hypermanganesemia with dystonia 1 and aspiration pneumonia. An important gene associated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease is SLC30A10 (Solute Carrier Family 30 Member 10). Affiliated tissues include liver and brain.

GeneReviews: NBK100241

Related Diseases for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Diseases related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypermanganesemia with dystonia 1 10.4
2 aspiration pneumonia 10.4
3 liver disease 10.4
4 dystonia 10.4
5 paraplegia 10.4
6 polycythemia 10.4
7 tremor 10.4

Graphical network of the top 20 diseases related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:



Diseases related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Symptoms & Phenotypes for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Drugs & Therapeutics for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Search Clinical Trials , NIH Clinical Center for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Genetic Tests for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Anatomical Context for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

MalaCards organs/tissues related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

41
Liver, Brain

Publications for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Articles related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

(show all 21)
# Title Authors PMID Year
1
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 4
27117033 2016
2
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 4
27231142 2016
3
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. 4
25778823 2015
4
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. 4
25319704 2014
5
Inherited manganism: the "cock-walk" gait and typical neuroimaging features. 4
24746291 2014
6
Pathology of inherited manganese transporter deficiency. 4
24599576 2014
7
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 4
22926781 2012
8
Pathophysiology of manganese-associated neurotoxicity. 4
22202748 2012
9
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 4
22341972 2012
10
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 4
22341971 2012
11
Design of the Trial to Assess Chelation Therapy (TACT). 4
22172430 2012
12
Manganese toxicity in a child with iron deficiency and polycythemia. 4
21596707 2011
13
Manganese encephalopathy: an under-recognized condition in the intensive care unit. 4
21174173 2011
14
Acquired hepatocerebral degeneration. 4
21496578 2011
15
Intellectual impairment in school-age children exposed to manganese from drinking water. 4
20855239 2011
16
BSR/BHPR guideline for disease-modifying anti-rheumatic drug (DMARD) therapy in consultation with the British Association of Dermatologists. 4
16940305 2008
17
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. 4
18392750 2008
18
A Parkinsonian syndrome in methcathinone users and the role of manganese. 4
18322282 2008
19
Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. 4
11040156 2000
20
Regulation of the erythropoietin gene. 4
10477715 1999
21
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 38
22934317 2012

Variations for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Expression for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Search GEO for disease gene expression data for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.

Pathways for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

GO Terms for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

Sources for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

3 CDC
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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