MCID: SLC035
MIFTS: 9

Slc39a14 Deficiency

Aliases & Classifications for Slc39a14 Deficiency

MalaCards integrated aliases for Slc39a14 Deficiency:

Name: Slc39a14 Deficiency 24
Slc39a14-Related Early-Onset Dystonia-Parkinsonism 24

Summaries for Slc39a14 Deficiency

MalaCards based summary : Slc39a14 Deficiency, also known as slc39a14-related early-onset dystonia-parkinsonism, is related to dystonia and hypermanganesemia with dystonia 2. An important gene associated with Slc39a14 Deficiency is SLC39A14 (Solute Carrier Family 39 Member 14). Affiliated tissues include brain.

GeneReviews: NBK431123

Related Diseases for Slc39a14 Deficiency

Diseases related to Slc39a14 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 10.2
2 hypermanganesemia with dystonia 2 10.1
3 scoliosis 10.1
4 hemosiderosis 10.1
5 hypotonia 10.1
6 spasticity 10.1
7 tremor 10.1
8 rare hereditary hemochromatosis 10.1

Graphical network of the top 20 diseases related to Slc39a14 Deficiency:



Diseases related to Slc39a14 Deficiency

Symptoms & Phenotypes for Slc39a14 Deficiency

Drugs & Therapeutics for Slc39a14 Deficiency

Search Clinical Trials , NIH Clinical Center for Slc39a14 Deficiency

Genetic Tests for Slc39a14 Deficiency

Anatomical Context for Slc39a14 Deficiency

MalaCards organs/tissues related to Slc39a14 Deficiency:

41
Brain

Publications for Slc39a14 Deficiency

Articles related to Slc39a14 Deficiency:

(show all 17)
# Title Authors PMID Year
1
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 4
27817865 2016
2
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 4
27231142 2016
3
Manganese Encephalopathy among Ephedron Abusers. 4
25255816 2015
4
Manganese in human parenteral nutrition: considerations for toxicity and biomonitoring. 4
24184781 2014
5
Parkinsonian syndrome and ataxia as a presenting finding of acquired hepatocerebral degeneration. 4
24390157 2014
6
Associations of welding and manganese exposure with Parkinson disease: review and meta-analysis. 4
22965675 2012
7
Design of the Trial to Assess Chelation Therapy (TACT). 4
22172430 2012
8
BSR/BHPR guideline for disease-modifying anti-rheumatic drug (DMARD) therapy in consultation with the British Association of Dermatologists. 4
16940305 2008
9
SLC39A14, a LZT protein, is induced in adipogenesis and transports zinc. 4
15794747 2005
10
Structure-function analysis of a novel member of the LIV-1 subfamily of zinc transporters, ZIP14. 4
15642354 2005
11
Genetic Disorders of Manganese Metabolism. 38
31089831 2019
12
Correction for Jenkitkasemwong et al., SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice. 38
29735648 2018
13
SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice. 38
29437953 2018
14
Inherited disorders of transition metal metabolism: an update. 38
28303424 2017
15
SLC39A14 Deficiency 38
28541650 2017
16
Manganese transporter Slc39a14 deficiency revealed its key role in maintaining manganese homeostasis in mice. 38
28751976 2017
17
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis. 38
26028554 2015

Variations for Slc39a14 Deficiency

Expression for Slc39a14 Deficiency

Search GEO for disease gene expression data for Slc39a14 Deficiency.

Pathways for Slc39a14 Deficiency

GO Terms for Slc39a14 Deficiency

Sources for Slc39a14 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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