HMDPC
MCID: HYP165
MIFTS: 15

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (HMDPC) malady

Neuronal, Liver, Metabolic categories

Summaries for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 parkinson's disease. An important gene associated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis is SLC30A10 (solute carrier family 30, member 10). Affiliated tissues include brain and liver.

Description from OMIM:47 613280

Aliases & Classifications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 22
hypermanganesemia with dystonia, polycythemia, and cirrhosis 21 47
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 49
hmdpc 21


External Ids:

OMIM47 613280

Related Diseases for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
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 disease10.8
2parkinson's disease10.6

Clinical Features for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
47OMIM
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Clinical features from OMIM:

613280

Clinical synopsis from OMIM:

613280

Drugs & Therapeutics for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

33
Brain, Liver

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

Sources:
28inGenious Targeting Laboratory
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Publications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Genetic Variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Expression for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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

Compounds for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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

Products for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet