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hypermanganesemia with dystonia 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.
Uniprot Description A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080537
OMIM:617013
Orphanet:521406
SCTID:768554008
UMLS:C4310765
MONDO:0014864
High level summary of knowledge for a disease, including descriptions and datasource references.