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 57 75 6
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis 57 75 13
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 53 73
Hmndyt1 57 75
Hmdpc 57 75
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis; Hmdpc 57
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 40
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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

OMIM : 57 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)

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

UniProtKB/Swiss-Prot : 75 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 family:

Hypermanganesemia with Dystonia 1 Hypermanganesemia with Dystonia 2

Diseases related to Hypermanganesemia with Dystonia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypermanganesemia with dystonia 31.2 LOC107985281 SLC30A10
2 hypermanganesemia with dystonia 2 11.0
3 dystonia 10.3
4 polycythemia 10.3

Symptoms & Phenotypes for Hypermanganesemia with Dystonia 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
dystonia
rigidity
bradykinesia
more
Hematology:
polycythemia

Neurologic Peripheral Nervous System:
sensorimotor neuropathy (1 patient)

Abdomen Liver:
hepatomegaly
cirrhosis
liver dysfunction

Laboratory Abnormalities:
increased total iron binding capacity
increased liver enzymes
hyperbilirubinemia, unconjugated
increased serum manganese
increased erythropoietin
more

Clinical features from OMIM:

613280

Human phenotypes related to Hypermanganesemia with Dystonia 1:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 parkinsonism 32 HP:0001300
3 dystonia 32 HP:0001332
4 tremor 32 HP:0001337
5 cirrhosis 32 HP:0001394
6 decreased liver function 32 HP:0001410
7 polycythemia 32 HP:0001901
8 rigidity 32 HP:0002063
9 bradykinesia 32 HP:0002067
10 postural instability 32 HP:0002172
11 hepatomegaly 32 HP:0002240
12 spastic paraparesis 32 occasional (7.5%) HP:0002313
13 elevated hepatic transaminases 32 HP:0002910
14 poor fine motor coordination 32 HP:0007010
15 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
16 increased total iron binding capacity 32 HP:0025196

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

Anatomical Context for Hypermanganesemia with Dystonia 1

MalaCards organs/tissues related to Hypermanganesemia with Dystonia 1:

41
Liver, Pituitary, Brain

Publications for Hypermanganesemia with Dystonia 1

Articles related to Hypermanganesemia with Dystonia 1:

# Title Authors Year
1
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. ( 29193034 )
2017
2
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. ( 27117033 )
2016

Variations for Hypermanganesemia with Dystonia 1

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

75
# 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 top 50) (show all 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC30A10 NM_018713.2(SLC30A10): c.507delG (p.Pro170Leufs) deletion Pathogenic rs281860287 GRCh38 Chromosome 1, 219927934: 219927934
2 SLC30A10 NM_018713.2(SLC30A10): c.314_322delCCCGGCCCG (p.Ala105_Pro107del) deletion Pathogenic rs281860285 GRCh37 Chromosome 1, 220101461: 220101469
3 SLC30A10 NM_018713.2(SLC30A10): c.314_322delCCCGGCCCG (p.Ala105_Pro107del) deletion Pathogenic rs281860285 GRCh38 Chromosome 1, 219928119: 219928127
4 SLC30A10 NM_018713.2(SLC30A10): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs281860284 GRCh37 Chromosome 1, 220101517: 220101517
5 SLC30A10 NM_018713.2(SLC30A10): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs281860284 GRCh38 Chromosome 1, 219928175: 219928175
6 SLC30A10 NM_018713.2(SLC30A10): c.585delG (p.Thr196Profs) deletion Pathogenic rs281860288 GRCh37 Chromosome 1, 220101198: 220101198
7 SLC30A10 NM_018713.2(SLC30A10): c.585delG (p.Thr196Profs) deletion Pathogenic rs281860288 GRCh38 Chromosome 1, 219927856: 219927856
8 SLC30A10 NM_018713.2(SLC30A10): c.507delG (p.Pro170Leufs) deletion Pathogenic rs281860287 GRCh37 Chromosome 1, 220101276: 220101276
9 SLC30A10 NM_018713.2(SLC30A10): c.1235delA (p.Gln412Argfs) deletion Pathogenic rs281860292 GRCh37 Chromosome 1, 220089014: 220089014
10 SLC30A10 NM_018713.2(SLC30A10): c.1235delA (p.Gln412Argfs) deletion Pathogenic rs281860292 GRCh38 Chromosome 1, 219915672: 219915672
11 SLC30A10 NC_000001.11: g.219817461_219918599del101139 deletion Pathogenic GRCh37 Chromosome 1, 219990803: 220091941
12 SLC30A10 NC_000001.11: g.219817461_219918599del101139 deletion Pathogenic GRCh38 Chromosome 1, 219817461: 219918599
13 SLC30A10 NC_000001.11: g.219817461_219918599del101139 deletion Pathogenic NCBI36 Chromosome 1, 218057426: 218158564
14 SLC30A10 NM_018713.2(SLC30A10): c.1046T> C (p.Leu349Pro) single nucleotide variant Pathogenic rs281860291 GRCh37 Chromosome 1, 220089203: 220089203
15 SLC30A10 NM_018713.2(SLC30A10): c.1046T> C (p.Leu349Pro) single nucleotide variant Pathogenic rs281860291 GRCh38 Chromosome 1, 219915861: 219915861
16 SLC30A10 NM_018713.2(SLC30A10): c.292_402del111 (p.Val98_Phe134del) deletion Pathogenic GRCh37 Chromosome 1, 220101381: 220101491
17 SLC30A10 NM_018713.2(SLC30A10): c.292_402del111 (p.Val98_Phe134del) deletion Pathogenic GRCh38 Chromosome 1, 219928039: 219928149
18 SLC30A10 NM_018713.2(SLC30A10): c.500T> C (p.Phe167Ser) single nucleotide variant Pathogenic rs281860286 GRCh37 Chromosome 1, 220101283: 220101283
19 SLC30A10 NM_018713.2(SLC30A10): c.500T> C (p.Phe167Ser) single nucleotide variant Pathogenic rs281860286 GRCh38 Chromosome 1, 219927941: 219927941
20 SLC30A10 NM_018713.2(SLC30A10): c.765_767delGGT (p.Val256del) deletion Pathogenic rs281860289 GRCh37 Chromosome 1, 220091788: 220091790
21 SLC30A10 NM_018713.2(SLC30A10): c.765_767delGGT (p.Val256del) deletion Pathogenic rs281860289 GRCh38 Chromosome 1, 219918446: 219918448
22 SLC30A10 NM_018713.2(SLC30A10): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs281860290 GRCh37 Chromosome 1, 220091633: 220091633
23 SLC30A10 NM_018713.2(SLC30A10): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs281860290 GRCh38 Chromosome 1, 219918291: 219918291
24 SLC30A10 NM_018713.2(SLC30A10): c.-87A> T single nucleotide variant Uncertain significance rs531545790 GRCh38 Chromosome 1, 219928527: 219928527
25 SLC30A10 NM_018713.2(SLC30A10): c.-87A> T single nucleotide variant Uncertain significance rs531545790 GRCh37 Chromosome 1, 220101869: 220101869
26 SLC30A10 NM_018713.2(SLC30A10): c.907G> A (p.Ala303Thr) single nucleotide variant Uncertain significance rs34097842 GRCh38 Chromosome 1, 219918306: 219918306
27 SLC30A10 NM_018713.2(SLC30A10): c.907G> A (p.Ala303Thr) single nucleotide variant Uncertain significance rs34097842 GRCh37 Chromosome 1, 220091648: 220091648
28 SLC30A10 NM_018713.2(SLC30A10): c.676A> G (p.Met226Val) single nucleotide variant Uncertain significance rs199783843 GRCh38 Chromosome 1, 219927070: 219927070
29 SLC30A10 NM_018713.2(SLC30A10): c.676A> G (p.Met226Val) single nucleotide variant Uncertain significance rs199783843 GRCh37 Chromosome 1, 220100412: 220100412
30 SLC30A10 NM_018713.2(SLC30A10): c.440G> C (p.Gly147Ala) single nucleotide variant Uncertain significance rs886046002 GRCh38 Chromosome 1, 219928001: 219928001
31 SLC30A10 NM_018713.2(SLC30A10): c.440G> C (p.Gly147Ala) single nucleotide variant Uncertain significance rs886046002 GRCh37 Chromosome 1, 220101343: 220101343
32 SLC30A10 NM_018713.2(SLC30A10): c.284C> T (p.Thr95Ile) single nucleotide variant Uncertain significance rs188273166 GRCh38 Chromosome 1, 219928157: 219928157
33 SLC30A10 NM_018713.2(SLC30A10): c.284C> T (p.Thr95Ile) single nucleotide variant Uncertain significance rs188273166 GRCh37 Chromosome 1, 220101499: 220101499
34 SLC30A10 NM_018713.2(SLC30A10): c.76C> G (p.Leu26Val) single nucleotide variant Uncertain significance rs774149422 GRCh38 Chromosome 1, 219928365: 219928365
35 SLC30A10 NM_018713.2(SLC30A10): c.76C> G (p.Leu26Val) single nucleotide variant Uncertain significance rs774149422 GRCh37 Chromosome 1, 220101707: 220101707
36 SLC30A10 NM_018713.2(SLC30A10): c.*276C> T single nucleotide variant Uncertain significance rs138571819 GRCh38 Chromosome 1, 219915173: 219915173
37 SLC30A10 NM_018713.2(SLC30A10): c.*276C> T single nucleotide variant Uncertain significance rs138571819 GRCh37 Chromosome 1, 220088515: 220088515
38 SLC30A10 NM_018713.2(SLC30A10): c.-19G> A single nucleotide variant Uncertain significance rs199933401 GRCh38 Chromosome 1, 219928459: 219928459
39 SLC30A10 NM_018713.2(SLC30A10): c.-19G> A single nucleotide variant Uncertain significance rs199933401 GRCh37 Chromosome 1, 220101801: 220101801
40 SLC30A10 NM_018713.2(SLC30A10): c.-70C> T single nucleotide variant Uncertain significance rs886046005 GRCh37 Chromosome 1, 220101852: 220101852
41 SLC30A10 NM_018713.2(SLC30A10): c.-70C> T single nucleotide variant Uncertain significance rs886046005 GRCh38 Chromosome 1, 219928510: 219928510
42 SLC30A10 NM_018713.2(SLC30A10): c.*1128delC deletion Benign rs59755757 GRCh38 Chromosome 1, 219914321: 219914321
43 SLC30A10 NM_018713.2(SLC30A10): c.*1128delC deletion Benign rs59755757 GRCh37 Chromosome 1, 220087663: 220087663
44 SLC30A10 NM_018713.2(SLC30A10): c.*945C> T single nucleotide variant Uncertain significance rs115277486 GRCh38 Chromosome 1, 219914504: 219914504
45 SLC30A10 NM_018713.2(SLC30A10): c.*945C> T single nucleotide variant Uncertain significance rs115277486 GRCh37 Chromosome 1, 220087846: 220087846
46 SLC30A10 NM_018713.2(SLC30A10): c.*744G> T single nucleotide variant Benign rs2275707 GRCh38 Chromosome 1, 219914705: 219914705
47 SLC30A10 NM_018713.2(SLC30A10): c.*744G> T single nucleotide variant Benign rs2275707 GRCh37 Chromosome 1, 220088047: 220088047
48 SLC30A10 NM_018713.2(SLC30A10): c.*239A> G single nucleotide variant Uncertain significance rs886046000 GRCh38 Chromosome 1, 219915210: 219915210
49 SLC30A10 NM_018713.2(SLC30A10): c.*239A> G single nucleotide variant Uncertain significance rs886046000 GRCh37 Chromosome 1, 220088552: 220088552
50 SLC30A10 NM_018713.2(SLC30A10): c.1249C> G (p.Pro417Ala) single nucleotide variant Uncertain significance rs757737775 GRCh38 Chromosome 1, 219915658: 219915658

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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