PKDYS1
MCID: PRK101
MIFTS: 39

Parkinsonism-Dystonia, Infantile, 1 (PKDYS1)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinsonism-Dystonia, Infantile, 1

MalaCards integrated aliases for Parkinsonism-Dystonia, Infantile, 1:

Name: Parkinsonism-Dystonia, Infantile, 1 56 6
Pkdys 56 52 25 58 73
Dopamine Transporter Deficiency Syndrome 56 52 25 73
Dtds 56 52 25 73
Parkinsonism-Dystonia, Infantile 25 13 39
Infantile Parkinsonism-Dystonia 52 25 29
Parkinsonism-Dystonia Infantile 52 73
Slc6a3-Related Dopamine Transporter Deficiency Syndrome 52
Dopamine Transporter Deficiency Syndrome; Dtds 56
Infantile Dystonia-Parkinsonism 58
Dystonia-Parkinsonism Infantile 73
Dat Deficiency 52
Pkdys1 56
Ipd 58

Characteristics:

Orphanet epidemiological data:

58
infantile dystonia-parkinsonism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
decreased life expectancy
death often in the teenage years
poor response to l-dopa


HPO:

31
parkinsonism-dystonia, infantile, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinsonism-Dystonia, Infantile, 1

NIH Rare Diseases : 52 Dopamine transporter deficiency syndrome (DTDS) is a rare movement disorder that causes progressive (worsening) dystonia and parkinsonism . It usually begins in infancy ('classic DTDS') and for this reason, it is also known as 'infantile parkinsonism dystonia.' However, some people with DTDS may not develop symptoms until childhood or later (which is known as 'atypical DTDS'). The dystonia in DTDS is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Classic DTDS is associated with a poor outlook (prognosis ), and death may occur in the teenage years due to unexplained sudden causes or respiratory complications. Those with atypical DTDS may have milder symptoms and a longer lifespan, but the long-term outlook for this form is not well-known. DTDS is caused by mutations in the SLC6A3 gene and inheritance is autosomal recessive . There is no cure for DTDS; treatment aims to relieve symptoms and increase quality of life. Treatment may include medicines to control involuntary movements (such as tetrabenazine and benzodiazepines), medicines to control dystonia (such as pramipexole and ropinirole ), and physical therapy to reduce the risk of contractures from muscle rigidity.

MalaCards based summary : Parkinsonism-Dystonia, Infantile, 1, also known as pkdys, is related to slc6a3-related dopamine transporter deficiency syndrome and diastrophic dysplasia. An important gene associated with Parkinsonism-Dystonia, Infantile, 1 is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include eye, t cells and lung, and related phenotypes are parkinsonism and abnormal pyramidal sign

Genetics Home Reference : 25 Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later. People with dopamine transporter deficiency syndrome develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia is widespread (generalized), affecting many different muscles. The continuous muscle cramping and spasms cause difficulty with basic activities, including speaking, eating, drinking, picking up objects, and walking. As the condition worsens, affected individuals develop parkinsonism, which is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, and an inability to hold the body upright and balanced (postural instability). Other signs and symptoms that can develop include abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; frequent episodes of pneumonia; and problems with the digestive system, including a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation. People with dopamine transporter deficiency syndrome may have a shortened lifespan, although the long-term effects of this condition are not fully understood. Children with this condition have died from pneumonia and breathing problems. When the first signs and symptoms appear later in life, affected individuals may survive into adulthood.

OMIM : 56 Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increased ratio of dopamine to serotonin metabolites (review by Kurian et al., 2011). (613135)

UniProtKB/Swiss-Prot : 73 Parkinsonism-dystonia infantile: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.

Wikipedia : 74 Dopamine transporter deficiency syndrome (DTDS), also known as infantile parkinsonism-dystonia, is a... more...

Related Diseases for Parkinsonism-Dystonia, Infantile, 1

Diseases in the Parkinsonism-Dystonia, Infantile, 1 family:

Parkinsonism-Dystonia, Infantile, 2

Diseases related to Parkinsonism-Dystonia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 slc6a3-related dopamine transporter deficiency syndrome 12.6
2 diastrophic dysplasia 12.3
3 invasive pneumococcal disease, recurrent isolated, 1 12.1
4 invasive pneumococcal disease, recurrent isolated, 2 11.6
5 segawa syndrome, autosomal recessive 11.4
6 parkinsonism-dystonia, infantile, 2 11.3
7 personality disorder 10.4
8 post-traumatic stress disorder 10.3
9 acute stress disorder 10.3
10 avoidant personality disorder 10.3
11 peritonitis 10.3
12 attention deficit-hyperactivity disorder 10.3
13 separation anxiety disorder 10.3
14 generalized anxiety disorder 10.3
15 mitral valve stenosis 10.3
16 panic disorder 10.3
17 parkinson disease, late-onset 10.2
18 dystonia 10.2
19 dermatitis 10.2
20 kidney disease 10.2
21 spinal stenosis 10.2
22 meningitis 10.2
23 psychogenic movement 10.2
24 pneumococcal meningitis 10.2
25 autosomal recessive disease 10.1
26 odontochondrodysplasia 10.1
27 atelosteogenesis, type ii 10.1
28 achondrogenesis, type ib 10.1
29 fibrosarcoma 10.1
30 multiple epiphyseal dysplasia, recessive 10.1
31 neurodegeneration with brain iron accumulation 2a 10.1
32 neuroaxonal dystrophy 10.1
33 bipolar disorder 10.1
34 bladder cancer 10.1
35 body mass index quantitative trait locus 1 10.1
36 allergic rhinitis 10.1
37 pre-eclampsia 10.1
38 rickets 10.1
39 eclampsia 10.1
40 contact dermatitis 10.1
41 rhinitis 10.1
42 hypereosinophilic syndrome 10.1
43 cerebral palsy 10.0
44 hypotonia 10.0
45 alcohol dependence 9.9
46 exudative vitreoretinopathy 1 9.9
47 otitis media 9.9
48 polydactyly, preaxial i 9.9
49 schistosoma mansoni infection, susceptibility/ 9.9
50 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9

Graphical network of the top 20 diseases related to Parkinsonism-Dystonia, Infantile, 1:



Diseases related to Parkinsonism-Dystonia, Infantile, 1

Symptoms & Phenotypes for Parkinsonism-Dystonia, Infantile, 1

Human phenotypes related to Parkinsonism-Dystonia, Infantile, 1:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
2 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
3 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
4 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
7 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
8 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
9 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
10 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
11 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
12 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
13 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
14 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
15 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
16 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
17 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
18 abnormal circulating carboxylic acid concentration 31 frequent (33%) HP:0004354
19 hypertonia 58 31 Frequent (79-30%) HP:0001276
20 tremor 31 HP:0001337
21 dyskinesia 31 HP:0100660
22 delayed gross motor development 31 HP:0002194
23 dystonia 58 Very frequent (99-80%)
24 rigidity 31 HP:0002063
25 limb dystonia 31 HP:0002451
26 abnormality of carboxylic acid metabolism 58 Frequent (79-30%)
27 morphological abnormality of the pyramidal tract 31 HP:0002062
28 hyperkinetic movements 31 HP:0002487
29 ocular flutter 31 HP:0031931

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
chorea
dyskinesia
dystonia
rigidity
more
Head And Neck Eyes:
ocular flutter
oculogyric crises
eye movement disorder

Head And Neck Mouth:
orolingual dyskinesia

Abdomen Gastrointestinal:
constipation
feeding difficulties
gastroesophageal reflux

Head And Neck Face:
masked facies

Laboratory Abnormalities:
increased csf homovanillic acid (hva)
normal csf 5-hydroxyindoleacetic acid (5-hiaa)

Clinical features from OMIM:

613135

Drugs & Therapeutics for Parkinsonism-Dystonia, Infantile, 1

Search Clinical Trials , NIH Clinical Center for Parkinsonism-Dystonia, Infantile, 1

Genetic Tests for Parkinsonism-Dystonia, Infantile, 1

Genetic tests related to Parkinsonism-Dystonia, Infantile, 1:

# Genetic test Affiliating Genes
1 Infantile Parkinsonism-Dystonia 29 SLC6A3

Anatomical Context for Parkinsonism-Dystonia, Infantile, 1

MalaCards organs/tissues related to Parkinsonism-Dystonia, Infantile, 1:

40
Eye, T Cells, Lung, Testes, Tongue, Brain, Heart

Publications for Parkinsonism-Dystonia, Infantile, 1

Articles related to Parkinsonism-Dystonia, Infantile, 1:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 56 6
22279524 2012
2
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. 56 6
21112253 2011
3
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 56 6
19478460 2009
4
SLC6A3-Related Dopamine Transporter Deficiency Syndrome 61 6
28749637 2017
5
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. 56
21777827 2011
6
First application of CE-ICP-MS for monitoring the formation of cisplatin targeting delivery systems with gold nanocarriers. 61
31976562 2020
7
The SUMO-Conjugase Ubc9 Prevents the Degradation of the Dopamine Transporter, Enhancing Its Cell Surface Level and Dopamine Uptake. 61
30828290 2019
8
A Radiomics Signature in Preoperative Predicting Degree of Tumor Differentiation in Patients with Non-small Cell Lung Cancer. 61
29572049 2018
9
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS. 61
29258773 2018
10
Using the Payoff Time in Decision-Analytic Models: A Case Study for Using Statins in Primary Prevention. 61
28441087 2017
11
Disruptive technology disorder: A past, present, and future neurologic syndrome. 61
28739662 2017
12
Epigenetic targeting drugs potentiate chemotherapeutic effects in solid tumor therapy. 61
28642588 2017
13
Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome. 61
28417953 2017
14
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment. 61
27690368 2017
15
A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome. 61
27519790 2017
16
Reader domain specificity and lysine demethylase-4 family function. 61
27841353 2016
17
Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells. 61
27555326 2016
18
Do Pills Have No Ills? Capturing the Impact of Direct Treatment Disutility. 61
26645572 2016
19
Sero-Prevalence and Genetic Diversity of Pandemic V. parahaemolyticus Strains Occurring at a Global Scale. 61
27148244 2016
20
Reliability and Validity of the Korean Version of the Dimensions of Tobacco Dependence Scale for Adolescents. 61
25916840 2015
21
[Genetic characterization of Vibrio parahaemolyticus O3: K6 serovariant isolated in Shenzhen]. 61
25876490 2015
22
A dual-mode human computer interface combining speech and tongue motion for people with severe disabilities. 61
23475380 2013
23
2,2'-Dithienyl diselenide pro-oxidant activity accounts for antibacterial and antifungal activities. 61
23683588 2013
24
2,2'-Dithienyl diselenide, an organoselenium compound, elicits antioxidant action and inhibits monoamine oxidase activity in vitro. 61
22468748 2013
25
High doses of 2,2'-dithienyl diselenide cause systemic toxicity in rats: an in vitro and in vivo study. 61
22180340 2013
26
Comparison of heritabilities of dairy traits in Australian Holstein-Friesian cattle from genomic and pedigree data and implications for genomic evaluations. 61
23317062 2013
27
Population structure of clinical and environmental Vibrio parahaemolyticus from the Pacific Northwest coast of the United States. 61
23409028 2013
28
NCBI Bookshelf: books and documents in life sciences and health care. 61
23203889 2013
29
Substituted diazatetracyclo[4.4.0.1(3,10).1(5,8)]dodecanes as stable caged proton sponges. 61
22148544 2012
30
Protective effect of 2,2'-dithienyl diselenide on kainic acid-induced neurotoxicity in rat hippocampus. 61
21820494 2011
31
The benefits of digital thoracic drainage system for outpatients undergoing pulmonary resection surgery. 61
21680137 2011
32
A study of the inhibition/promotion effects of sodium-copper chlorophyllin (SCC)-mediated mutagenesis in somatic cells of Drosophila. 61
21406245 2011
33
The tissue microarray data exchange specification: Extending TMA DES to provide flexible scoring and incorporate virtual slides. 61
21572508 2011
34
Differences in the smoking identities of adolescent boys and girls. 61
20965665 2011
35
Using XML to encode TMA DES metadata. 61
21969921 2011
36
NISO Z39.96The Journal Article Tag Suite (JATS): What Happened to the NLM DTDs? 61
22140303 2011
37
A novel marker for the platyfish (Xiphophorus maculatus) W chromosome is derived from a Polinton transposon. 61
20347827 2010
38
Ligand-bound structures provide atomic snapshots for the catalytic mechanism of D-amino acid deacylase. 61
20007323 2010
39
Psychometric testing of the Chinese version of the Dimensions of Tobacco Dependence Scale. 61
19619205 2009
40
The Influence of Web- Versus Paper-based Formats on the Assessment of Tobacco Dependence: Evaluating the Measurement Invariance of the Dimensions of Tobacco Dependence Scale. 61
24357926 2009
41
Dual-task decrements in gait: contributing factors among healthy older adults. 61
19126846 2008
42
Adolescents' self-defined tobacco use status, marijuana use, and tobacco dependence. 61
18571870 2008
43
Validation of the Dimensions of Tobacco Dependence Scale for adolescents. 61
17175114 2007
44
Sensing minute changes in biological cell monolayers with THz differential time-domain spectroscopy. 61
16621500 2007
45
Responding to desire to die statements from patients with advanced disease: recommendations for health professionals. 61
17060269 2006
46
Post-transfer editing mechanism of a D-aminoacyl-tRNA deacylase-like domain in threonyl-tRNA synthetase from archaea. 61
16902403 2006
47
An extensible automated protein annotation tool: standardizing input and output using validated XML. 61
16339285 2006
48
Development of a multidimensional measure of tobacco dependence in adolescence. 61
15718067 2005
49
Archaea recruited D-Tyr-tRNATyr deacylase for editing in Thr-tRNA synthetase. 61
15525705 2004
50
Synthesis of novel diazatricyclodecanes (DTDs). Effects of structural variation at the C3' allyl end and at the phenyl ring of the cinnamyl chain on mu-receptor affinity and opioid antinociception. 61
12927864 2003

Variations for Parkinsonism-Dystonia, Infantile, 1

ClinVar genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A3 NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)SNV Pathogenic 16763 rs267607068 5:1414859-1414859 5:1414744-1414744
2 SLC6A3 NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)SNV Pathogenic 16764 rs267607069 5:1411443-1411443 5:1411328-1411328
3 SLC6A3 NM_001044.5(SLC6A3):c.1269+1G>ASNV Pathogenic 29685 rs431905504 5:1411357-1411357 5:1411242-1411242
4 SLC6A3 NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)SNV Pathogenic 97017 rs431905515 5:1422112-1422112 5:1421997-1421997
5 SLC6A3 NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)SNV Pathogenic 97018 rs431905516 5:1406341-1406341 5:1406226-1406226
6 SLC6A3 NM_001044.5(SLC6A3):c.1031+1G>ASNV Likely pathogenic 97016 rs431905514 5:1416212-1416212 5:1416097-1416097
7 SLC6A3 NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)SNV Likely pathogenic 807497 5:1443135-1443135 5:1443020-1443020
8 SLC6A3 NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)SNV Conflicting interpretations of pathogenicity 377082 rs71653633 5:1432733-1432733 5:1432618-1432618
9 SLC6A3 NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)SNV Uncertain significance 470637 rs763131939 5:1394870-1394870 5:1394755-1394755
10 SLC6A3 NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)SNV Uncertain significance 290889 rs28364997 5:1403128-1403128 5:1403013-1403013
11 SLC6A3 NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys)SNV Uncertain significance 470631 rs6350 5:1443199-1443199 5:1443084-1443084
12 SLC6A3 NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp)SNV Uncertain significance 470640 rs149444784 5:1432627-1432627 5:1432512-1432512
13 SLC6A3 NM_001044.5(SLC6A3):c.1768-7_1768-6delshort repeat Uncertain significance 538068 rs781468421 5:1401107-1401108 5:1400992-1400993
14 SLC6A3 NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)SNV Uncertain significance 538065 rs145114326 5:1414807-1414807 5:1414692-1414692
15 SLC6A3 NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)SNV Uncertain significance 538067 rs201800694 5:1443243-1443243 5:1443128-1443128
16 SLC6A3 NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)SNV Uncertain significance 538064 rs769456530 5:1403076-1403076 5:1402961-1402961
17 SLC6A3 NC_000005.9:g.(?_1394830)_(1394893_?)dupduplication Uncertain significance 583705 5:1394830-1394893 5:1394715-1394778
18 SLC6A3 NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu)SNV Uncertain significance 582040 rs757417973 5:1443236-1443236 5:1443121-1443121
19 SLC6A3 NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)SNV Uncertain significance 579182 rs200712598 5:1394856-1394856 5:1394741-1394741
20 SLC6A3 NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)SNV Uncertain significance 573687 rs372722904 5:1401031-1401031 5:1400916-1400916
21 SLC6A3 NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe)SNV Uncertain significance 572335 rs1560928848 5:1443098-1443098 5:1442983-1442983
22 SLC6A3 NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)SNV Uncertain significance 634445 rs577802449 5:1414895-1414895 5:1414780-1414780
23 SLC6A3 NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)SNV Uncertain significance 644046 5:1403163-1403163 5:1403048-1403048
24 SLC6A3 NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr)SNV Uncertain significance 663071 5:1411411-1411411 5:1411296-1411296
25 SLC6A3 NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)SNV Uncertain significance 641958 5:1414844-1414844 5:1414729-1414729
26 SLC6A3 NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val)SNV Uncertain significance 653566 5:1432784-1432784 5:1432669-1432669
27 SLC6A3 NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)SNV Uncertain significance 650178 5:1422122-1422122 5:1422007-1422007
28 SLC6A3 NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln)SNV Uncertain significance 640390 5:1441516-1441516 5:1441401-1441401
29 SLC6A3 NM_001044.5(SLC6A3):c.285C>T (p.Gly95=)SNV Uncertain significance 643877 5:1443028-1443028 5:1442913-1442913
30 SLC6A3 NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)SNV Uncertain significance 650844 5:1443161-1443161 5:1443046-1443046
31 SLC6A3 NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro)SNV Uncertain significance 645067 5:1443279-1443279 5:1443164-1443164
32 SLC6A3 NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)SNV Uncertain significance 538063 rs750843353 5:1414875-1414875 5:1414760-1414760
33 SLC6A3 NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu)SNV Uncertain significance 538066 rs149444784 5:1432627-1432627 5:1432512-1432512
34 SLC6A3 NM_001044.5(SLC6A3):c.201C>T (p.Ile67=)SNV Likely benign 538072 rs191426052 5:1443112-1443112 5:1442997-1442997
35 SLC6A3 NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=)SNV Likely benign 538069 rs1553985998 5:1411379-1411379 5:1411264-1411264
36 SLC6A3 NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=)SNV Likely benign 538070 rs111362222 5:1414924-1414924 5:1414809-1414809
37 SLC6A3 NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)SNV Likely benign 538073 rs1264236301 5:1403160-1403160 5:1403045-1403045
38 SLC6A3 NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)SNV Benign/Likely benign 470639 rs28364996 5:1432686-1432686 5:1432571-1432571
39 SLC6A3 NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)SNV Benign 470627 rs369288905 5:1414927-1414927 5:1414812-1414812
40 SLC6A3 NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)SNV Benign 470642 rs6348 5:1420801-1420801 5:1420686-1420686
41 SLC6A3 NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)SNV Benign 470634 rs6346 5:1443163-1443163 5:1443048-1443048
42 SLC6A3 NM_001044.5(SLC6A3):c.1498+14A>GSNV Benign 518359 rs429699 5:1409127-1409127 5:1409012-1409012
43 SLC6A3 NM_001044.5(SLC6A3):c.419-12C>ASNV Benign 522347 rs460000 5:1432825-1432825 5:1432710-1432710
44 SLC6A3 NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)SNV Benign 522348 rs6350 5:1443199-1443199 5:1443084-1443084
45 SLC6A3 NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)SNV Benign 199052 rs6347 5:1411412-1411412 5:1411297-1411297
46 SLC6A3 NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)SNV Benign 287682 rs6349 5:1403073-1403073 5:1402958-1402958
47 SLC6A3 NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)SNV Benign 470636 rs6351 5:1443151-1443151 5:1443036-1443036

UniProtKB/Swiss-Prot genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:

73
# Symbol AA change Variation ID SNP ID
1 SLC6A3 p.Leu368Gln VAR_063771 rs267607068
2 SLC6A3 p.Pro395Leu VAR_063772 rs267607069

Expression for Parkinsonism-Dystonia, Infantile, 1

Search GEO for disease gene expression data for Parkinsonism-Dystonia, Infantile, 1.

Pathways for Parkinsonism-Dystonia, Infantile, 1

GO Terms for Parkinsonism-Dystonia, Infantile, 1

Sources for Parkinsonism-Dystonia, Infantile, 1

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