MCID: SLC036
MIFTS: 8

Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Aliases & Classifications for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

MalaCards integrated aliases for Slc6a3-Related Dopamine Transporter Deficiency Syndrome:

Name: Slc6a3-Related Dopamine Transporter Deficiency Syndrome 24
Dat Deficiency 24

Characteristics:

GeneReviews:

24
Penetrance Slc6a3-related dtds shows complete penetrance with no discernible gender differences.

Summaries for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

MalaCards based summary : Slc6a3-Related Dopamine Transporter Deficiency Syndrome, also known as dat deficiency, is related to parkinsonism-dystonia, infantile, 1 and chorea, childhood-onset, with psychomotor retardation. An important gene associated with Slc6a3-Related Dopamine Transporter Deficiency Syndrome is SLC6A3 (Solute Carrier Family 6 Member 3).

GeneReviews: NBK442323

Related Diseases for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Diseases related to Slc6a3-Related Dopamine Transporter Deficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinsonism-dystonia, infantile, 1 12.0
2 chorea, childhood-onset, with psychomotor retardation 10.3
3 choreatic disease 10.3
4 dystonia 10.3
5 hypotonia 10.3
6 tremor 10.3

Graphical network of the top 20 diseases related to Slc6a3-Related Dopamine Transporter Deficiency Syndrome:



Diseases related to Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Symptoms & Phenotypes for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Drugs & Therapeutics for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Genetic Tests for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Anatomical Context for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Publications for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Articles related to Slc6a3-Related Dopamine Transporter Deficiency Syndrome:

(show all 28)
# Title Authors PMID Year
1
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment. 4
27690368 2017
2
Monoamine neurotransmitter disorders--clinical advances and future perspectives. 4
26392380 2015
3
Wilson's disease and other neurological copper disorders. 4
25496901 2015
4
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. 4
25313507 2014
5
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. 4
25011953 2014
6
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD. 4
24911152 2014
7
Parkinsonism and inborn errors of metabolism. 4
24906253 2014
8
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. 4
24613933 2014
9
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. 4
23979605 2013
10
The solute carrier 6 family of transporters. 4
22519513 2012
11
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 4
22341972 2012
12
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. 4
21777827 2011
13
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. 4
21112253 2011
14
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 4
19766516 2010
15
Infantile parkinsonism-dystonia: a dopamine "transportopathy". 4
19504720 2009
16
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 4
19478460 2009
17
Mitochondrial diseases mimicking neurotransmitter defects. 4
18558519 2008
18
Antidepressant binding site in a bacterial homologue of neurotransmitter transporters. 4
17687333 2007
19
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. 4
16365882 2006
20
Molecular genetics of bipolar disorder. 4
16436192 2006
21
Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. 4
8628395 1996
22
Individual parkinsonian motor signs and striatal dopamine transporter deficiency: a study with [I-123]FP-CIT SPECT. 38
30687897 2019
23
Correlations between dopaminergic dysfunction and abnormal metabolic network activity in REM sleep behavior disorder. 38
30741074 2019
24
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS. 38
29258773 2018
25
Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism. 38
28972153 2017
26
SLC6A3-Related Dopamine Transporter Deficiency Syndrome 38
28749637 2017
27
Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome. 38
28417953 2017
28
Validation of parametric methods for [¹¹C]PE2I positron emission tomography. 38
23435214 2013

Variations for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Expression for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Search GEO for disease gene expression data for Slc6a3-Related Dopamine Transporter Deficiency Syndrome.

Pathways for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

GO Terms for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

Sources for Slc6a3-Related Dopamine Transporter Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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54 NINDS
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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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