MCID: DYS031
MIFTS: 12

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

Genetic diseases (common), Liver diseases categories

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

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20GeneReviews, 34MalaCards
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MalaCards: Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease, also known as hoyeraal-hreidarsson syndrome, is related to dystonia and liver disease. 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 summary for hmdpc

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

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20GeneReviews, 21GeneTests, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Liver diseases


Aliases & Descriptions:

dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 20 21
hoyeraal-hreidarsson syndrome 63
revesz syndrome 63


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

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18GeneCards, 19GeneDecks
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Diseases related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dystonia10.6
2liver disease10.6
3polycythemia10.6
4hypermanganesemia with dystonia polycythemia and cirrhosis10.6

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

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Drug clinical trials:

Search ClinicalTrials for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

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

Search CenterWatch for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

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

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21GeneTests
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Genetic tests related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

id Genetic test Affiliating Genes
1 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease21 SLC30A10

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

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34MalaCards
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MalaCards organs/tissues related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

34
Liver

Animal Models for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and... or affiliated genes

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

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53PubMed
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Articles related to Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

idTitleAuthorsYear
1
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease (22934317)
1993

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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1DKC1NM_001363.4(DKC1): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs121912304GRCh37Chr X, 153993780: 153993780
2DKC1NM_001363.4(DKC1): c.361A> G (p.Ser121Gly)single nucleotide variantPathogenicrs121912305GRCh37Chr X, 153994588: 153994588
3TINF2NM_001099274.1(TINF2): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs121918544GRCh37Chr 14, 24709841: 24709841

Expression for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

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

Pathways for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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Compounds for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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GO Terms for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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Products for genes affiliated with Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet