Hypermanganesemia with Dystonia 1 (HMNDYT1)

Alias:
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis
Hmndyt1
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hmdpc
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypermanganesemia with Dystonia 1, also known as hypermanganesemia with dystonia, polycythemia, and cirrhosis, is related to hypermanganesemia with dystonia 2 and hypermanganesemia with dystonia, 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), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Metal ion SLC transporters. Affiliated tissues include liver and pituitary, and related phenotypes are dysarthria and gait disturbance
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
6
35
28

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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