MCID: DYS031
MIFTS: 14

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 25 6

Classifications:



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

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

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 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

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:

40
Liver

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

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

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

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

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...

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