MCID: HYP598
MIFTS: 26

Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases categories

Aliases & Classifications for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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Aliases & Descriptions for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:

Name: Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 49 11 23 67
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 51 24
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 45 65
Hmdpc 23 67
 
Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease 23
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 23
Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia 23
Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM49 613280
Orphanet51 309854
UMLS via Orphanet66 C2750442
MedGen34 C2750442
MeSH36 D008659

Summaries for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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OMIM:49 Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an autosomal recessive metabolic disorder... (613280) more...

MalaCards based summary: Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis, also known as cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome, is related to liver disease and dystonia, and has symptoms including spastic paraparesis, sensorimotor neuropathy and autosomal recessive inheritance. 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.

Genetics Home Reference:23 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).

UniProtKB/Swiss-Prot:67 Hypermanganesemia with dystonia, polycythemia, and cirrhosis: A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.

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 Suite gene sharing:

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

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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Interventional clinical trials:

Search ClinicalTrials, 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 Cirrhosis24

Anatomical Context for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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

33
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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UniProtKB/Swiss-Prot genetic disease variations for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:

67
id Symbol AA change Variation ID SNP ID
1SLC30A10p.Leu89ProVAR_072573
2SLC30A10p.Leu349ProVAR_072577

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

5 (show all 11)
id Gene Variation 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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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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GO Terms for genes affiliated with Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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Sources for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet