MCID: HYP821
MIFTS: 26

Hypermanganesemia with Dystonia

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

Aliases & Classifications for Hypermanganesemia with Dystonia

MalaCards integrated aliases for Hypermanganesemia with Dystonia:

Name: Hypermanganesemia with Dystonia 12 43 36 15 39
Familial Manganese-Induced Neurotoxicity 43
Hmndyt 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0080535
KEGG 36 H01938

Summaries for Hypermanganesemia with Dystonia

MedlinePlus Genetics : 43 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.In HMDPC (also known as hypermanganesemia with dystonia 1), manganese accumulates in the blood, brain, and liver. Signs and symptoms of the condition can begin in childhood (early-onset), typically between ages 2 and 15, or in adulthood (adult-onset). Most children with the early-onset form of HMDPC experience dystonia in the arms and legs, which often leads to a characteristic high-stepping walk described as a "cock-walk gait." Other neurological symptoms in affected children include involuntary trembling (tremor), unusually slow movement (bradykinesia), and slurred speech (dysarthria). The adult-onset form of HMDPC is characterized by a pattern of movement abnormalities known as parkinsonism, which includes bradykinesia, tremor, muscle rigidity, and an inability to hold the body upright and balanced (postural instability).Individuals with HMDPC have an increased number of red blood cells (polycythemia) and low levels of iron stored in the body. Additional features of HMDPC can include an enlarged liver (hepatomegaly) due to manganese accumulation in the organ, scarring (fibrosis) in the liver, and irreversible liver disease (cirrhosis).In hypermanganesemia with dystonia 2, manganese accumulates in the blood and brain. Signs and symptoms of this type of the disorder usually begin between ages 6 months and 3 years. Development of motor skills, such as sitting and walking, may be delayed, or if already learned, they may be lost. Dystonia can affect any part of the body and worsens over time. By late childhood, the sustained muscle contractions often result in joints that are permanently bent (contractures) and an inability to walk unassisted. Some affected individuals have an abnormal curvature of the spine (scoliosis). People with hypermanganesemia with dystonia 2 can have other neurological problems similar to those in HMDPC, such as tremor, bradykinesia, parkinsonism, and dysarthria. Unlike in HMDPC, individuals with hypermanganesemia with dystonia 2 do not develop polycythemia or liver problems.

MalaCards based summary : Hypermanganesemia with Dystonia, also known as familial manganese-induced neurotoxicity, is related to hypermanganesemia with dystonia 2 and dystonia. An important gene associated with Hypermanganesemia with Dystonia is SLC30A10 (Solute Carrier Family 30 Member 10), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Affiliated tissues include liver and brain.

Disease Ontology : 12 A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.

KEGG : 36 Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity.

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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 hypermanganesemia with dystonia 2 31.5 SLC39A14 SLC39A13 SLC33A1 SLC30A9 AP1S1
2 dystonia 30.0 SLC39A8 SLC39A14 SLC30A10 ATP13A2
3 hypermanganesemia with dystonia 1 12.0
4 liver cirrhosis 10.3
5 polycythemia 10.3
6 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 10.1
7 congenital disorder of glycosylation, type iin 10.0 SLC39A8 SLC39A14
8 spinal muscular atrophy, distal, x-linked 3 9.9 SLC33A1 AP1S1
9 atransferrinemia 9.9 SLC40A1 SLC39A14
10 parkinsonism 9.8 SLC39A14 SLC30A10
11 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 SLC33A1 AP1S1
12 dystonia 12 9.8 SLC39A14 SLC30A10 ATP13A2
13 hemochromatosis type 2 9.8 SLC40A1 SLC39A14
14 hemochromatosis, type 5 9.8 SLC33A1 SLC30A9 AP1S1
15 metal metabolism disorder 9.7 SLC40A1 SLC39A8 SLC39A14
16 neurodegeneration with brain iron accumulation 9.7 SLC40A1 SLC39A14 ATP13A2
17 ehlers-danlos syndrome, spondylodysplastic type, 3 9.6 SLC39A8 SLC39A14 SLC39A13
18 acrodermatitis enteropathica, zinc-deficiency type 9.6 SLC39A8 SLC39A14 SLC39A13
19 aceruloplasminemia 9.2 SLC40A1 SLC39A8 SLC39A14 SLC33A1 ATP13A2
20 hemochromatosis, type 1 8.9 SLC40A1 SLC39A8 SLC39A14 SLC39A13 SLC33A1 SLC30A9

Graphical network of the top 20 diseases related to Hypermanganesemia with Dystonia:



Diseases related to Hypermanganesemia with Dystonia

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:

40
Liver, Brain

Publications for Hypermanganesemia with Dystonia

Articles related to Hypermanganesemia with Dystonia:

# Title Authors PMID Year
1
Penicillamine for Hypermanganesemia With Dystonia, Polycythemia, and Cirrhosis in 2 Sisters. 61
33268559 2021
2
Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation. 61
31970220 2020
3
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. 61
29193034 2018
4
Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis. 61
28692648 2017
5
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 61
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
12.78 SLC40A1 SLC39A8 SLC39A14 SLC33A1 ATP13A2
2 11.49 SLC39A8 SLC39A14 SLC39A13
3
Show member pathways
11.08 SLC40A1 SLC39A8 SLC39A14 SLC39A13 SLC30A9 SLC30A10
4 10.74 SLC40A1 SLC39A8 SLC39A14

GO Terms for Hypermanganesemia with Dystonia

Cellular components related to Hypermanganesemia with Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.81 SLC40A1 SLC39A8 SLC39A14 SLC39A13 SLC33A1 SLC30A9
2 integral component of membrane GO:0016021 9.56 SLC40A1 SLC39A8 SLC39A14 SLC39A13 SLC33A1 SLC30A9
3 lysosome GO:0005764 9.5 SLC39A8 SLC39A14 ATP13A2
4 basolateral plasma membrane GO:0016323 9.43 SLC40A1 SLC39A8 SLC39A14
5 lysosomal membrane GO:0005765 8.92 SLC39A8 SLC39A14 ATP13A2 AP1S1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC40A1 SLC39A8 SLC39A14 SLC39A13 SLC30A9 SLC30A10
2 transmembrane transport GO:0055085 9.8 SLC39A8 SLC39A14 SLC39A13 SLC33A1 SLC30A9 SLC30A10
3 cation transport GO:0006812 9.63 SLC30A9 SLC30A10 ATP13A2
4 metal ion transport GO:0030001 9.58 SLC39A8 SLC39A14 SLC39A13
5 cellular iron ion homeostasis GO:0006879 9.52 SLC40A1 ATP13A2
6 inorganic anion transport GO:0015698 9.51 SLC39A8 SLC39A14
7 iron ion transmembrane transport GO:0034755 9.49 SLC40A1 SLC39A14
8 zinc ion import across plasma membrane GO:0071578 9.48 SLC39A8 SLC39A14
9 zinc ion transmembrane transport GO:0071577 9.46 SLC39A8 SLC39A14 SLC39A13 SLC30A10
10 cadmium ion transmembrane transport GO:0070574 9.43 SLC39A8 SLC39A14
11 manganese ion transmembrane transport GO:0071421 9.43 SLC39A8 SLC39A14 SLC30A10
12 zinc ion transport GO:0006829 9.35 SLC39A8 SLC39A14 SLC39A13 SLC30A9 SLC30A10
13 cellular zinc ion homeostasis GO:0006882 9.1 SLC39A8 SLC39A14 SLC39A13 SLC30A9 SLC30A10 ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transporter activity GO:0008324 9.43 SLC30A9 SLC30A10
2 metal ion transmembrane transporter activity GO:0046873 9.43 SLC39A8 SLC39A14 SLC39A13
3 ferrous iron transmembrane transporter activity GO:0015093 9.4 SLC40A1 SLC39A14
4 cadmium ion transmembrane transporter activity GO:0015086 9.37 SLC39A8 SLC39A14
5 iron ion transmembrane transporter activity GO:0005381 9.33 SLC40A1 SLC39A8 SLC39A14
6 anion:cation symporter activity GO:0015296 9.32 SLC39A8 SLC39A14
7 manganese ion transmembrane transporter activity GO:0005384 9.13 SLC39A8 SLC39A14 SLC30A10
8 zinc ion transmembrane transporter activity GO:0005385 8.92 SLC39A8 SLC39A14 SLC39A13 SLC30A10

Sources for Hypermanganesemia with Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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