HMDPC
MCID: HYP165
MIFTS: 24

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (HMDPC) malady

Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases categories
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Summaries for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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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 based summary: 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, and has symptoms including 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:
21Genetics Home Reference, 42NIH Rare Diseases, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 63UMLS via Orphanet
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Hypermanganesemia with Dystonia Polycythemia and Cirrhosis, Aliases & Descriptions:

Name: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 42 22
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 21 46
Hmdpc 21 62
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


Classifications:

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


External Ids:

OMIM46 613280
UMLS via Orphanet63 C2750442

Related Diseases for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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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
3dystonia10.6
4polycythemia10.6
5hepatitis10.6

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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Symptoms by clinical synopsis from OMIM:

613280

Clinical features from OMIM:

613280

HPO human phenotypes related to Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

(show all 16)
id Description Frequency HPO Source Accession
1 spastic paraparesis rare (5%) HP:0002313
2 sensorimotor neuropathy rare (5%) HP:0007141
3 autosomal recessive inheritance HP:0000007
4 dysarthria HP:0001260
5 parkinsonism HP:0001300
6 dystonia HP:0001332
7 tremor HP:0001337
8 cirrhosis HP:0001394
9 decreased liver function HP:0001410
10 polycythemia HP:0001901
11 rigidity HP:0002063
12 bradykinesia HP:0002067
13 postural instability HP:0002172
14 hepatomegaly HP:0002240
15 elevated hepatic transaminases HP:0002910
16 variable expressivity HP:0003828

Drugs & Therapeutics for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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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

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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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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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Variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

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Clinvar genetic disease variations for Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:

6 (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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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet