HMDPC
MCID: HYP165
MIFTS: 22

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (HMDPC) malady

Rare diseases, Neuronal diseases, Liver diseases categories
Download this MalaCard

Summaries for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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 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:47 613280

Aliases & Classifications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


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
UMLS via Orphanet63 C2750442

Related Diseases for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

613280

Clinical features from OMIM:

613280

Drugs & Therapeutics for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Search NIH Clinical Center for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

Genetic Tests for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Liver

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

About this section

Publications for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section

Variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section

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

About this section

Products for genes affiliated with Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet