HMNDYT1
MCID: HYP598
MIFTS: 27

Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis (HMNDYT1) malady

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

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

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

Name: Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 54 25 66 13
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 50 69
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 56 29
Hmdpc 25 66
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 66
Hmndyt1 66

Characteristics:

Orphanet epidemiological data:

56
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
hypermanganesemia with dystonia, polycythemia, and cirrhosis:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 613280
Orphanet 56 ORPHA309854
UMLS via Orphanet 70 C2750442
MedGen 40 C2750442
MeSH 42 D008659

Summaries for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

OMIM : 54 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 tremor, dystonia and bradykinesia. 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 : 66 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

Diseases related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 12.6
2 hepatitis 10.3
3 liver disease 10.2
4 dystonia 10.1
5 polycythemia 10.1

Graphical network of the top 20 diseases related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:



Diseases related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Symptoms & Phenotypes for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Symptoms by clinical synopsis from OMIM:

613280

Clinical features from OMIM:

613280

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

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 dystonia 32 HP:0001332
3 bradykinesia 32 HP:0002067
4 dysarthria 32 HP:0001260
5 hepatomegaly 32 HP:0002240
6 decreased liver function 32 HP:0001410
7 elevated hepatic transaminases 32 HP:0002910
8 cirrhosis 32 HP:0001394
9 rigidity 32 HP:0002063
10 sensorimotor neuropathy 32 HP:0007141
11 parkinsonism 32 HP:0001300
12 postural instability 32 HP:0002172
13 spastic paraparesis 32 HP:0002313
14 polycythemia 32 HP:0001901

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


muscle rigidity, tremor, bradykinesia, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Search Clinical Trials , NIH Clinical Center for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Genetic Tests for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Genetic tests related to Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis:

id Genetic test Affiliating Genes
1 Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 29

Anatomical Context for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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

39
Liver, Brain

Publications for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 SLC30A10 p.Leu89Pro VAR_072573 rs281860284
2 SLC30A10 p.Leu349Pro VAR_072577 rs281860291

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

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC30A10 NM_018713.2(SLC30A10): c.314_322delCCCGGCCCG (p.Ala105_Pro107del) deletion Pathogenic rs281860285 GRCh37 Chromosome 1, 220101461: 220101469
2 SLC30A10 NM_018713.2(SLC30A10): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs281860284 GRCh37 Chromosome 1, 220101517: 220101517
3 SLC30A10 NM_018713.2(SLC30A10): c.585delG (p.Thr196Profs) deletion Pathogenic rs281860288 GRCh37 Chromosome 1, 220101198: 220101198
4 SLC30A10 NM_018713.2(SLC30A10): c.507delG (p.Pro170Leufs) deletion Pathogenic rs281860287 GRCh37 Chromosome 1, 220101276: 220101276
5 SLC30A10 NM_018713.2(SLC30A10): c.1235delA (p.Gln412Argfs) deletion Pathogenic rs281860292 GRCh37 Chromosome 1, 220089014: 220089014
6 SLC30A10 NC_000001.11: g.219817461_219918599del101139 deletion Pathogenic GRCh37 Chromosome 1, 219990803: 220091941
7 SLC30A10 NM_018713.2(SLC30A10): c.1046T> C (p.Leu349Pro) single nucleotide variant Pathogenic rs281860291 GRCh37 Chromosome 1, 220089203: 220089203
8 SLC30A10 NM_018713.2(SLC30A10): c.292_402del111 (p.Val98_Phe134del) deletion Pathogenic GRCh37 Chromosome 1, 220101381: 220101491
9 SLC30A10 NM_018713.2(SLC30A10): c.500T> C (p.Phe167Ser) single nucleotide variant Pathogenic rs281860286 GRCh37 Chromosome 1, 220101283: 220101283
10 SLC30A10 NM_018713.2(SLC30A10): c.765_767delGGT (p.Val256del) deletion Pathogenic rs281860289 GRCh37 Chromosome 1, 220091788: 220091790
11 SLC30A10 NM_018713.2(SLC30A10): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs281860290 GRCh37 Chromosome 1, 220091633: 220091633
12 SLC30A10 NM_018713.2(SLC30A10): c.1006C> T (p.His336Tyr) single nucleotide variant Pathogenic rs770740586 GRCh38 Chromosome 1, 219915901: 219915901
13 SLC30A10 NM_018713.2(SLC30A10): c.496_553del58 (p.Ala166Glnfs) deletion Pathogenic GRCh38 Chromosome 1, 219927888: 219927945
14 SLC30A10 NM_018713.2(SLC30A10): c.492delC (p.Gly165Alafs) deletion Pathogenic rs1057519590 GRCh37 Chromosome 1, 220101291: 220101291
15 SLC30A10 NM_018713.2(SLC30A10): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs1057519589 GRCh38 Chromosome 1, 219927981: 219927981

Expression for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Search GEO for disease gene expression data for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis.

Pathways for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

GO Terms for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

Sources for Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis

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