MCID: HYP821
MIFTS: 18

Hypermanganesemia with Dystonia

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

Aliases & Classifications for Hypermanganesemia with Dystonia

MalaCards integrated aliases for Hypermanganesemia with Dystonia:

Name: Hypermanganesemia with Dystonia 25 37
Familial Manganese-Induced Neurotoxicity 25
Hmndyt 25

Classifications:



External Ids:

KEGG 37 H01938

Summaries for Hypermanganesemia with Dystonia

Genetics Home Reference : 25 Hypermanganesemia with dystonia is an inherited disorder in which excessive amounts of the element manganese accumulate in the body (hypermanganesemia). One place manganese builds up in particular is in a region of the brain responsible for the coordination of movement, causing neurological problems that make controlling movement difficult. Consequently, the condition is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements. Two types of hypermanganesemia with dystonia, called hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2, have been identified. They are distinguished by their genetic causes and certain specific features.

MalaCards based summary : Hypermanganesemia with Dystonia, also known as familial manganese-induced neurotoxicity, is related to hypermanganesemia with dystonia 1 and dystonia. An important gene associated with Hypermanganesemia with Dystonia is SLC30A10 (Solute Carrier Family 30 Member 10), and among its related pathways/superpathways is Metal ion SLC transporters. Affiliated tissues include brain.

Related Diseases for Hypermanganesemia with Dystonia

Diseases in the Hypermanganesemia with Dystonia family:

Hypermanganesemia with Dystonia 1 Hypermanganesemia with Dystonia 2

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

# Related Disease Score Top Affiliating Genes
1 hypermanganesemia with dystonia 1 33.2 LOC107985281 SLC30A10
2 dystonia 28.5 SLC30A10 SLC39A14
3 hypermanganesemia with dystonia 2 12.5
4 polycythemia 10.1

Symptoms & Phenotypes for Hypermanganesemia with Dystonia

Drugs & Therapeutics for Hypermanganesemia with Dystonia

Search Clinical Trials , NIH Clinical Center for Hypermanganesemia with Dystonia

Genetic Tests for Hypermanganesemia with Dystonia

Anatomical Context for Hypermanganesemia with Dystonia

MalaCards organs/tissues related to Hypermanganesemia with Dystonia:

41
Brain

Publications for Hypermanganesemia with Dystonia

Articles related to Hypermanganesemia with Dystonia:

# 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

Expression for Hypermanganesemia with Dystonia

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

Pathways for Hypermanganesemia with Dystonia

Pathways related to Hypermanganesemia with Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 SLC30A10 SLC39A14

GO Terms for Hypermanganesemia with Dystonia

Biological processes related to Hypermanganesemia with Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.26 SLC30A10 SLC39A14
2 transmembrane transport GO:0055085 9.16 SLC30A10 SLC39A14
3 zinc ion transport GO:0006829 8.96 SLC30A10 SLC39A14
4 zinc ion transmembrane transport GO:0071577 8.62 SLC30A10 SLC39A14

Molecular functions related to Hypermanganesemia with Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 8.62 SLC30A10 SLC39A14

Sources for Hypermanganesemia with Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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45 MESH via Orphanet
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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