Details of Disease | DrugMAP

General Information of Disease (ID: DISGVSB2)

Disease Name	Hypermanganesemia with dystonia 2
Synonyms	hypermanganesemia with dystonia type 2; SLC39A14 hypermanganesemia with dystonia; hypermanganesemia with dystonia caused by mutation in SLC39A14; hypermanganesemia with dystonia 2; HMNDYT2; HMNDYT2; hypermanganesemia with dystonia 2
Definition	Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.
Disease Hierarchy	DIST2IF5: Hypermanganesemia with dystonia DISI0BQR: Disorder of manganese transport DISCPWH9: Autosomal recessive disease DISD715V: Hereditary neurological disease DISGVSB2: Hypermanganesemia with dystonia 2
Disease Identifiers	MONDO ID MONDO_0014864 UMLS CUI C4310765 OMIM ID 617013 MedGen ID 934732 Orphanet ID 521406 SNOMED CT ID 768554008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A14	DTZ6IJW	moderate	GermlineCausalMutation	[1]
SLC39A14	DTZ6IJW	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC39A14	OTGR686L	Strong	Autosomal recessive	[2]
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References

1	Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.
2	Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.