MCID: HYP598
MIFTS: 27

Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases

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 51 25 69 12
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 47 67
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 53 26
Hmdpc 25 69
Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease 25
 
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 25
Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia 25
Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia 25
Hypermanganesemia with Dystonia 1 69
Hmndyt1 69

Characteristics:

Orphanet epidemiological data:

53
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
hypermanganesemia with dystonia, polycythemia, and cirrhosis:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 613280
Orphanet53 ORPHA309854
UMLS via Orphanet68 C2750442
MedGen36 C2750442
MeSH38 D008659

Summaries for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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OMIM:51 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 hypermanganesemia with dystonia polycythemia and cirrhosis, is related to dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease and hepatitis, and has symptoms including spastic paraparesis, sensorimotor neuropathy and dysarthria. 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:25 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:69 Hypermanganesemia with dystonia 1: 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
1dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease12.6
2hepatitis10.3
3liver disease10.2
4dystonia10.1
5polycythemia10.1

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

Human phenotypes related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 spastic paraparesis63 rare (5%) HP:0002313
2 sensorimotor neuropathy63 rare (5%) HP:0007141
3 dysarthria63 HP:0001260
4 parkinsonism63 HP:0001300
5 dystonia63 HP:0001332
6 tremor63 HP:0001337
7 cirrhosis63 HP:0001394
8 decreased liver function63 HP:0001410
9 polycythemia63 HP:0001901
10 rigidity63 HP:0002063
11 bradykinesia63 HP:0002067
12 postural instability63 HP:0002172
13 hepatomegaly63 HP:0002240
14 elevated hepatic transaminases63 HP:0002910

UMLS symptoms related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:


hepatomegaly, muscle rigidity, tremor, bradykinesia, extrapyramidal sign

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 Cirrhosis26

Anatomical Context for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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

35
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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Articles related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:

idTitleAuthorsYear
1
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. (27117033)
2016

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:

69
id Symbol AA change Variation ID SNP ID
1SLC30A10p.Leu89ProVAR_072573rs281860284
2SLC30A10p.Leu349ProVAR_072577rs281860291

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)SNVPathogenicrs281860284GRCh37Chr 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)SNVPathogenicrs281860291GRCh37Chr 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)SNVPathogenicrs281860286GRCh37Chr 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)SNVPathogenicrs281860290GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet