MCID: HYP716
MIFTS: 28

Hypermanganesemia with Dystonia 1

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

Aliases & Classifications for Hypermanganesemia with Dystonia 1

MalaCards integrated aliases for Hypermanganesemia with Dystonia 1:

Name: Hypermanganesemia with Dystonia 1 54 71 29
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 25 71 13
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 50 69
Hmdpc 25 71
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
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 56
Hmndyt1 71

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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset usually in first decade
adult onset of neurologic symptoms has been reported in 1 family
chelation therapy can result in clinical improvement


HPO:

32
hypermanganesemia with dystonia 1:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypermanganesemia with Dystonia 1

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).

MalaCards based summary : Hypermanganesemia with Dystonia 1, also known as hypermanganesemia with dystonia, polycythemia, and cirrhosis, is related to dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease and hypermanganesemia with dystonia 2, and has symptoms including dystonia, dysarthria and tremor. An important gene associated with Hypermanganesemia with Dystonia 1 is SLC30A10 (Solute Carrier Family 30 Member 10). Affiliated tissues include liver, brain and pituitary.

OMIM : 54
Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). (613280)

UniProtKB/Swiss-Prot : 71 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 1

Diseases in the Hypermanganesemia with Dystonia 1 family:

Hypermanganesemia with Dystonia 2

Diseases related to Hypermanganesemia with Dystonia 1 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 hypermanganesemia with dystonia 2 10.9
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 1:



Diseases related to Hypermanganesemia with Dystonia 1

Symptoms & Phenotypes for Hypermanganesemia with Dystonia 1

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dystonia
dysarthria
tremor
parkinsonism
bradykinesia
more
Laboratory- Abnormalities:
increased liver enzymes
increased serum manganese
hyperbilirubinemia, unconjugated
increased erythropoietin
low ferritin
more
Neurologic- Peripheral Nervous System:
sensorimotor neuropathy (1 patient)

Abdomen- Liver:
hepatomegaly
liver dysfunction
cirrhosis

Hematology:
polycythemia


Clinical features from OMIM:

613280

Human phenotypes related to Hypermanganesemia with Dystonia 1:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 hepatomegaly 32 HP:0002240
5 parkinsonism 32 HP:0001300
6 bradykinesia 32 HP:0002067
7 rigidity 32 HP:0002063
8 postural instability 32 HP:0002172
9 spastic paraparesis 32 occasional (7.5%) HP:0002313
10 cirrhosis 32 HP:0001394
11 polycythemia 32 HP:0001901
12 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
13 decreased liver function 32 HP:0001410
14 elevated hepatic transaminases 32 HP:0002910

UMLS symptoms related to Hypermanganesemia with Dystonia 1:


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

Drugs & Therapeutics for Hypermanganesemia with Dystonia 1

Search Clinical Trials , NIH Clinical Center for Hypermanganesemia with Dystonia 1

Genetic Tests for Hypermanganesemia with Dystonia 1

Genetic tests related to Hypermanganesemia with Dystonia 1:

id Genetic test Affiliating Genes
1 Hypermanganesemia with Dystonia 1 29

Anatomical Context for Hypermanganesemia with Dystonia 1

MalaCards organs/tissues related to Hypermanganesemia with Dystonia 1:

39
Liver, Brain, Pituitary

Publications for Hypermanganesemia with Dystonia 1

Variations for Hypermanganesemia with Dystonia 1

UniProtKB/Swiss-Prot genetic disease variations for Hypermanganesemia with Dystonia 1:

71
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 1:

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 NM_018713.2(SLC30A10): c.500T> C (p.Phe167Ser) single nucleotide variant Pathogenic rs281860286 GRCh37 Chromosome 1, 220101283: 220101283
7 SLC30A10 NM_018713.2(SLC30A10): c.765_767delGGT (p.Val256del) deletion Pathogenic rs281860289 GRCh37 Chromosome 1, 220091788: 220091790
8 SLC30A10 NM_018713.2(SLC30A10): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs281860290 GRCh37 Chromosome 1, 220091633: 220091633
9 SLC30A10 NC_000001.11: g.219817461_219918599del101139 deletion Pathogenic NCBI36 Chromosome 1, 218057426: 218158564
10 SLC30A10 NM_018713.2(SLC30A10): c.1046T> C (p.Leu349Pro) single nucleotide variant Pathogenic rs281860291 GRCh37 Chromosome 1, 220089203: 220089203
11 SLC30A10 NM_018713.2(SLC30A10): c.292_402del111 (p.Val98_Phe134del) deletion Pathogenic GRCh37 Chromosome 1, 220101381: 220101491
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 1

Search GEO for disease gene expression data for Hypermanganesemia with Dystonia 1.

Pathways for Hypermanganesemia with Dystonia 1

GO Terms for Hypermanganesemia with Dystonia 1

Sources for Hypermanganesemia with Dystonia 1

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