HMDPC
MCID: HYP165
MIFTS: 22

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (HMDPC) malady

Rare diseases, Neuronal diseases, Liver diseases categories

Summaries for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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48OMIM, 34MalaCards
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MalaCards: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis, also known as hypermanganesemia with dystonia, polycythemia, and cirrhosis, is related to dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease and dystonia. An important gene associated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis is SLC30A10 (solute carrier family 30, member 10). Affiliated tissues include liver.

Description from OMIM:48 613280

Aliases & Classifications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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22Genetics Home Reference, 44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

50
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hypermanganesemia with dystonia polycythemia and cirrhosis 44 23
hypermanganesemia with dystonia, polycythemia, and cirrhosis 22 48
parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease 22
dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 22
hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia 22
hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia 22
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 50
hmdpc 22


External Ids:

OMIM48 613280
UMLS via Orphanet64 C2750442

Related Diseases for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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18GeneCards, 19GeneDecks
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Diseases related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.9
2dystonia10.6
3liver disease10.6
4polycythemia10.6
5hepatitis10.5

Graphical network of diseases related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:



Diseases related to hypermanganesemia with dystonia polycythemia and cirrhosis

Symptoms for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613280

Clinical features from OMIM:

613280

Drugs & Therapeutics for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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

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Drug clinical trials:

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Search NIH Clinical Center for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Genetic Tests for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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23GTR
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Genetic tests related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

id Genetic test Affiliating Genes
1 Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis23

Anatomical Context for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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34MalaCards
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MalaCards organs/tissues related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

34
Liver

Animal Models for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis or affiliated genes

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Publications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SLC30A10NM_018713.2(SLC30A10): c.314_322delCCCGGCCCG (p.Ala105_Pro107del)deletionPathogenicrs281860285GRCh37Chr 1, 220101461: 220101469
2SLC30A10NM_018713.2(SLC30A10): c.266T> C (p.Leu89Pro)single nucleotide variantPathogenicrs281860284GRCh37Chr 1, 220101517: 220101517
3SLC30A10NM_018713.2(SLC30A10): c.585delG (p.Thr196Profs)deletionPathogenicrs281860288GRCh37Chr 1, 220101198: 220101198
4SLC30A10NM_018713.2(SLC30A10): c.507delG (p.Pro170Leufs)deletionPathogenicrs281860287GRCh37Chr 1, 220101276: 220101276
5SLC30A10NM_018713.2(SLC30A10): c.1235delA (p.Gln412Argfs)deletionPathogenicrs281860292GRCh37Chr 1, 220089014: 220089014
6SLC30A10NC_000001.11: g.219817461_219918599del101139deletionPathogenicGRCh37Chr 1, 219990803: 220091941
7SLC30A10NM_018713.2(SLC30A10): c.1046T> C (p.Leu349Pro)single nucleotide variantPathogenicrs281860291GRCh37Chr 1, 220089203: 220089203
8SLC30A10NM_018713.2(SLC30A10): c.292_402del111 (p.Val98_Phe134del)deletionPathogenicGRCh37Chr 1, 220101381: 220101491
9SLC30A10NM_018713.2(SLC30A10): c.500T> C (p.Phe167Ser)single nucleotide variantPathogenicrs281860286GRCh37Chr 1, 220101283: 220101283
10SLC30A10NM_018713.2(SLC30A10): c.765_767delGGT (p.Val256del)deletionPathogenicrs281860289GRCh37Chr 1, 220091788: 220091790
11SLC30A10NM_018713.2(SLC30A10): c.922C> T (p.Gln308Ter)single nucleotide variantPathogenicrs281860290GRCh37Chr 1, 220091633: 220091633

Expression for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Search GEO for disease gene expression data for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis.

Pathways for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Compounds for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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GO Terms for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Products for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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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