MCID: HYP598
MIFTS: 24

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

About this section

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

Name: Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 45 10 21
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 41 60
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 47 22
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
Hmdpc 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 613280
Orphanet47 309854
UMLS via Orphanet61 C2750442

Summaries for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

About this section


OMIM:45 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 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: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).

Related Diseases for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

About this section

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

About this section

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

About this section

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

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

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

31
Liver, Brain

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

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

62
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:

6 (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

About this section
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
  • Proteins
  • Kits and Assays

Sources for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet