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MCID: DYS031
MIFTS: 14

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

Categories: Liver diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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

Name: Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 25 6

Classifications:

MalaCards categories:
Anatomical: Liver diseases
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Summaries for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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MalaCards based summary : Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease is related to aspiration pneumonia and parkinsonism. 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.

GeneReviews: NBK100241
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Related Diseases for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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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 aspiration pneumonia 10.4
2 parkinsonism 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
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Symptoms & Phenotypes for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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

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

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

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

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

40
Liver
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Publications for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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

(show all 22)
# Title Authors PMID Year
1
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 25 6
22341972 2012
2
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 6 25
22341971 2012
3
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. 25 6
18392750 2008
4
Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. 25 6
11040156 2000
5
SLC30A10 Mutation Involved in Parkinsonism Results in Manganese Accumulation within Nanovesicles of the Golgi Apparatus. 6
30272946 2019
6
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 25
27117033 2016
7
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 25
27231142 2016
8
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. 25
25778823 2015
9
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. 25
25319704 2014
10
Inherited manganism: the "cock-walk" gait and typical neuroimaging features. 25
24746291 2014
11
Pathology of inherited manganese transporter deficiency. 25
24599576 2014
12
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 25
22926781 2012
13
Pathophysiology of manganese-associated neurotoxicity. 25
22202748 2012
14
Design of the Trial to Assess Chelation Therapy (TACT). 25
22172430 2012
15
Manganese toxicity in a child with iron deficiency and polycythemia. 25
21596707 2011
16
Manganese encephalopathy: an under-recognized condition in the intensive care unit. 25
21174173 2011
17
Acquired hepatocerebral degeneration. 25
21496578 2011
18
Intellectual impairment in school-age children exposed to manganese from drinking water. 25
20855239 2011
19
BSR/BHPR guideline for disease-modifying anti-rheumatic drug (DMARD) therapy in consultation with the British Association of Dermatologists. 25
16940305 2008
20
A Parkinsonian syndrome in methcathinone users and the role of manganese. 25
18322282 2008
21
Regulation of the erythropoietin gene. 25
10477715 1999
22
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 61
22934317 2012
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Variations for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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ClinVar genetic disease variations for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC30A10 NR_046437.1(SLC30A10):n.525_533del Deletion Pathogenic 30885 rs281860285 1:220101461-220101469 1:219928119-219928127
2 SLC30A10 NM_018713.2(SLC30A10):c.266T>C (p.Leu89Pro) SNV Pathogenic 30886 rs281860284 1:220101517-220101517 1:219928175-219928175
3 SLC30A10 NM_018713.2(SLC30A10):c.507del (p.Pro170fs) Deletion Pathogenic 30888 rs281860287 1:220101276-220101276 1:219927934-219927934
4 SLC30A10 NM_018713.2(SLC30A10):c.1235del (p.Gln412fs) Deletion Pathogenic 30889 rs281860292 1:220089014-220089014 1:219915672-219915672
5 SLC30A10 NM_018713.2(SLC30A10):c.1046T>C (p.Leu349Pro) SNV Pathogenic 38406 rs281860291 1:220089203-220089203 1:219915861-219915861
6 SLC30A10 NR_046437.1(SLC30A10):n.503_613del Deletion Pathogenic 38407 rs1553313839 1:220101381-220101491 1:219928039-219928149
7 SLC30A10 NM_018713.2(SLC30A10):c.500T>C (p.Phe167Ser) SNV Pathogenic 38408 rs281860286 1:220101283-220101283 1:219927941-219927941
8 SLC30A10 NM_018713.2(SLC30A10):c.922C>T (p.Gln308Ter) SNV Pathogenic 38410 rs281860290 1:220091633-220091633 1:219918291-219918291
9 SLC30A10 NM_018713.2(SLC30A10):c.492del (p.Gly165fs) Deletion Pathogenic 375607 rs1057519590 1:220101291-220101291 1:219927949-219927949
10 SLC30A10 NR_046437.1(SLC30A10):n.1014_1016del Deletion Pathogenic 38409 rs281860289 1:220091788-220091790 1:219918446-219918448
11 SLC30A10 NR_046437.1(SLC30A10):n.707_764del Deletion Pathogenic 375608 rs1553313783 1:220101230-220101287 1:219927888-219927945
12 SLC30A10 NR_046437.1(SLC30A10):n.796del Deletion Pathogenic 30887 rs281860288 1:220101198-220101198 1:219927856-219927856
13 SLC30A10 nsv1067840 Deletion Pathogenic 38295 1:219990803-220091941 1:219817461-219918599
14 SLC30A10 NM_018713.2(SLC30A10):c.460C>T (p.Gln154Ter) SNV Pathogenic 375606 rs1057519589 1:220101323-220101323 1:219927981-219927981
15 SLC30A10 NM_018713.2(SLC30A10):c.1006C>T (p.His336Tyr) SNV Pathogenic 375609 rs770740586 1:220089243-220089243 1:219915901-219915901
16 SLC30A10 NM_018713.2(SLC30A10):c.676A>G (p.Met226Val) SNV Uncertain significance 295589 rs199783843 1:220100412-220100412 1:219927070-219927070
17 SLC30A10 NM_018713.2(SLC30A10):c.-20C>A SNV Uncertain significance 295596 rs886046003 1:220101802-220101802 1:219928460-219928460
18 SLC30A10 NM_018713.3(SLC30A10):c.*1088G>C SNV Uncertain significance 876766 1:220087703-220087703 1:219914361-219914361
19 SLC30A10 NM_018713.3(SLC30A10):c.624G>A (p.Val208=) SNV Uncertain significance 876801 1:220101159-220101159 1:219927817-219927817
20 SLC30A10 NM_018713.3(SLC30A10):c.482G>T (p.Gly161Val) SNV Uncertain significance 876802 1:220101301-220101301 1:219927959-219927959
21 SLC30A10 NM_018713.2(SLC30A10):c.1249C>G (p.Pro417Ala) SNV Uncertain significance 295584 rs757737775 1:220089000-220089000 1:219915658-219915658
22 SLC30A10 NM_018713.2(SLC30A10):c.907G>A (p.Ala303Thr) SNV Uncertain significance 295587 rs34097842 1:220091648-220091648 1:219918306-219918306
23 SLC30A10 NM_018713.3(SLC30A10):c.*70G>A SNV Uncertain significance 874881 1:220088721-220088721 1:219915379-219915379
24 SLC30A10 NM_018713.3(SLC30A10):c.1399G>A (p.Gly467Arg) SNV Uncertain significance 875812 1:220088850-220088850 1:219915508-219915508
25 SLC30A10 NM_018713.3(SLC30A10):c.1248C>T (p.Pro416=) SNV Uncertain significance 875813 1:220089001-220089001 1:219915659-219915659
26 SLC30A10 NM_018713.3(SLC30A10):c.789T>C (p.Tyr263=) SNV Uncertain significance 875814 1:220091766-220091766 1:219918424-219918424
27 SLC30A10 NM_018713.2(SLC30A10):c.-70C>T SNV Uncertain significance 295599 rs886046005 1:220101852-220101852 1:219928510-219928510
28 SLC30A10 NM_018713.2(SLC30A10):c.1449G>A (p.Thr483=) SNV Uncertain significance 295582 rs148203711 1:220088800-220088800 1:219915458-219915458
29 SLC30A10 NM_018713.2(SLC30A10):c.*397C>T SNV Uncertain significance 295579 rs747429986 1:220088394-220088394 1:219915052-219915052
30 SLC30A10 NM_018713.2(SLC30A10):c.1118C>A (p.Ala373Glu) SNV Uncertain significance 295585 rs202111121 1:220089131-220089131 1:219915789-219915789
31 SLC30A10 NM_018713.2(SLC30A10):c.719-6T>C SNV Uncertain significance 295588 rs61832076 1:220091842-220091842 1:219918500-219918500
32 SLC30A10 NM_018713.2(SLC30A10):c.76C>G (p.Leu26Val) SNV Uncertain significance 295594 rs774149422 1:220101707-220101707 1:219928365-219928365
33 SLC30A10 NM_018713.2(SLC30A10):c.1068C>T (p.Asp356=) SNV Uncertain significance 295586 rs886046001 1:220089181-220089181 1:219915839-219915839
34 SLC30A10 NM_018713.2(SLC30A10):c.440G>C (p.Gly147Ala) SNV Uncertain significance 295592 rs886046002 1:220101343-220101343 1:219928001-219928001
35 SLC30A10 NM_018713.2(SLC30A10):c.-19G>A SNV Uncertain significance 295595 rs199933401 1:220101801-220101801 1:219928459-219928459
36 SLC30A10 NM_018713.2(SLC30A10):c.*239A>G SNV Uncertain significance 295581 rs886046000 1:220088552-220088552 1:219915210-219915210
37 SLC30A10 NM_018713.2(SLC30A10):c.-68C>T SNV Uncertain significance 295598 rs886046004 1:220101850-220101850 1:219928508-219928508
38 SLC30A10 NM_018713.3(SLC30A10):c.*847G>A SNV Uncertain significance 873930 1:220087944-220087944 1:219914602-219914602
39 SLC30A10 NM_018713.3(SLC30A10):c.*630G>A SNV Uncertain significance 873931 1:220088161-220088161 1:219914819-219914819
40 SLC30A10 NM_018713.3(SLC30A10):c.*466A>T SNV Uncertain significance 873932 1:220088325-220088325 1:219914983-219914983
41 SLC30A10 NM_018713.3(SLC30A10):c.*452T>G SNV Uncertain significance 873933 1:220088339-220088339 1:219914997-219914997
42 SLC30A10 NM_018713.3(SLC30A10):c.*356G>A SNV Uncertain significance 873934 1:220088435-220088435 1:219915093-219915093
43 SLC30A10 NM_018713.3(SLC30A10):c.66C>G (p.Phe22Leu) SNV Uncertain significance 873996 1:220101717-220101717 1:219928375-219928375
44 SLC30A10 NM_018713.3(SLC30A10):c.*315G>A SNV Uncertain significance 874877 1:220088476-220088476 1:219915134-219915134
45 SLC30A10 NM_018713.3(SLC30A10):c.*172T>C SNV Uncertain significance 874878 1:220088619-220088619 1:219915277-219915277
46 SLC30A10 NM_018713.3(SLC30A10):c.*117G>C SNV Uncertain significance 874879 1:220088674-220088674 1:219915332-219915332
47 SLC30A10 NM_018713.2(SLC30A10):c.-87A>T SNV Likely benign 295600 rs531545790 1:220101869-220101869 1:219928527-219928527
48 SLC30A10 NM_018713.3(SLC30A10):c.*1188T>C SNV Likely benign 876765 1:220087603-220087603 1:219914261-219914261
49 SLC30A10 NM_018713.2(SLC30A10):c.284C>T (p.Thr95Ile) SNV Likely benign 295593 rs188273166 1:220101499-220101499 1:219928157-219928157
50 SLC30A10 NM_018713.2(SLC30A10):c.*945C>T SNV Likely benign 295577 rs115277486 1:220087846-220087846 1:219914504-219914504
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Expression for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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