HMDPC
MCID: HYP165
MIFTS: 23

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (HMDPC) malady

Neuronal diseases, Liver diseases, Metabolic diseases categories

Summaries for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an inherited disorder in which excessive amounts of the element manganese accumulate in the body, particularly in the brain, liver, and blood (hypermanganesemia). Signs and symptoms of this condition can appear in childhood (early-onset), typically between ages 2 and 15, or in adulthood (adult-onset).

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 liver disease. An important gene associated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis is SLC30A10 (solute carrier family 30, member 10). Affiliated tissues include liver and brain.

Description from OMIM:46 613280

Aliases & Classifications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 22
hypermanganesemia with dystonia, polycythemia, and cirrhosis 21 46
parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease 21
dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 21
hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia 21
hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia 21
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 48
hmdpc 21


External Ids:

OMIM46 613280

Related Diseases for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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17GeneCards, 18GeneDecks
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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
2liver disease10.6
3polycythemia10.6
4hepatitis a10.5
5hepatitis10.5

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



Diseases related to hypermanganesemia with dystonia polycythemia and cirrhosis

Clinical Features for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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46OMIM
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Clinical features from OMIM:

613280

Clinical synopsis from OMIM:

613280

Drugs & Therapeutics for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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 Cirrhosis22

Anatomical Context for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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32MalaCards
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MalaCards organs/tissues related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

32
Liver, Brain

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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Genetic Variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Expression for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet