PKDYS1
MCID: PRK101
MIFTS: 40

Parkinsonism-Dystonia, Infantile, 1 (PKDYS1)

Categories: 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 57 29 6
Pkdys 57 20 43 58 72
Dopamine Transporter Deficiency Syndrome 57 20 43 72
Parkinsonism-Dystonia, Infantile 43 13 39 70
Dtds 57 20 43 72
Infantile Dystonia-Parkinsonism 58 29 6
Infantile Parkinsonism-Dystonia 20 43
Parkinsonism-Dystonia Infantile 20 72
Slc6a3-Related Dopamine Transporter Deficiency Syndrome 20
Dopamine Transporter Deficiency Syndrome; Dtds 57
Dystonia-Parkinsonism Infantile 72
Dat Deficiency 20
Pkdys1 57
Ipd 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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 segawa syndrome, autosomal recessive, and has symptoms including tremor, constipation and bradykinesia. An important gene associated with Parkinsonism-Dystonia, Infantile, 1 is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include eye and tongue, and related phenotypes are parkinsonism and abnormal pyramidal sign

MedlinePlus Genetics : 43 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 11.4
2 segawa syndrome, autosomal recessive 11.2
3 immunodeficiency 67 11.1
4 parkinsonism-dystonia, infantile, 2 11.0
5 dystonia 10.3
6 autosomal recessive disease 10.2
7 peritonitis 10.2
8 hypotonia 10.2
9 cystitis 10.1
10 parkinson disease, late-onset 10.1
11 rickets 10.1
12 interstitial cystitis 10.1
13 contact dermatitis 10.1
14 spinal stenosis 10.0
15 meningitis 10.0
16 hypereosinophilic syndrome 10.0
17 pneumococcal meningitis 10.0
18 chorea, childhood-onset, with psychomotor retardation 10.0
19 choreatic disease 10.0
20 attention deficit-hyperactivity disorder 10.0
21 bipolar disorder 10.0
22 asthma 9.9
23 dermatitis, atopic 9.9
24 body mass index quantitative trait locus 1 9.9
25 allergic rhinitis 9.9
26 malaria 9.9
27 pre-eclampsia 9.9
28 eclampsia 9.9
29 rhinitis 9.9
30 pneumonia 9.9
31 autonomic dysfunction 9.9
32 tremor 9.9
33 exudative vitreoretinopathy 1 9.8
34 otitis media 9.8
35 polydactyly, preaxial i 9.8
36 schistosoma mansoni infection, susceptibility/ 9.8
37 small cell cancer of the lung 9.8
38 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
39 lung cancer 9.8
40 enterocolitis 9.8
41 proteasome-associated autoinflammatory syndrome 1 9.8
42 properdin deficiency, x-linked 9.8
43 supranuclear palsy, progressive, 1 9.8
44 stroke, ischemic 9.8
45 yemenite deaf-blind hypopigmentation syndrome 9.8
46 branchiootic syndrome 1 9.8
47 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
48 coronary heart disease 1 9.8
49 mycobacterium tuberculosis 1 9.8
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8

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 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
7 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
8 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
9 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
10 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
11 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
12 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
13 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
14 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
15 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
16 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
17 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
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 dystonia 58 Very frequent (99-80%)
23 rigidity 31 HP:0002063
24 delayed gross motor development 31 HP:0002194
25 limb dystonia 31 HP:0002451
26 hyperkinetic movements 31 HP:0002487
27 abnormality of carboxylic acid metabolism 58 Frequent (79-30%)
28 morphological abnormality of the pyramidal tract 31 HP:0002062
29 ocular flutter 31 HP:0031931

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
gastroesophageal reflux
feeding difficulties

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 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinsonism-Dystonia, Infantile, 1:


tremor; constipation; bradykinesia; muscle rigidity; dystonia, limb; abnormal pyramidal signs

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 Parkinsonism-Dystonia, Infantile, 1 29 SLC6A3
2 Infantile Dystonia-Parkinsonism 29

Anatomical Context for Parkinsonism-Dystonia, Infantile, 1

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

40
Eye, Tongue

Publications for Parkinsonism-Dystonia, Infantile, 1

Articles related to Parkinsonism-Dystonia, Infantile, 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 57 6
22279524 2012
2
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. 57 6
21112253 2011
3
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 57 6
19478460 2009
4
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. 57
21777827 2011
5
Investigation of Electrical Characteristics in a Ferroelectric L-Patterned Gate Dual Tunnel Diode TFET. 61
32746176 2020
6
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family. 61
32077500 2020
7
First application of CE-ICP-MS for monitoring the formation of cisplatin targeting delivery systems with gold nanocarriers. 61
31976562 2020
8
The SUMO-Conjugase Ubc9 Prevents the Degradation of the Dopamine Transporter, Enhancing Its Cell Surface Level and Dopamine Uptake. 61
30828290 2019
9
A Radiomics Signature in Preoperative Predicting Degree of Tumor Differentiation in Patients with Non-small Cell Lung Cancer. 61
29572049 2018
10
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS. 61
29258773 2018
11
Using the Payoff Time in Decision-Analytic Models: A Case Study for Using Statins in Primary Prevention. 61
28441087 2017
12
Disruptive technology disorder: A past, present, and future neurologic syndrome. 61
28739662 2017
13
SLC6A3-Related Dopamine Transporter Deficiency Syndrome 61
28749637 2017
14
Epigenetic targeting drugs potentiate chemotherapeutic effects in solid tumor therapy. 61
28642588 2017
15
Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome. 61
28417953 2017
16
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment. 61
27690368 2017
17
Estimation of baboon daily travel distances by means of point sampling - the magnitude of underestimation. 61
32110702 2017
18
A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome. 61
27519790 2017
19
Reader domain specificity and lysine demethylase-4 family function. 61
27841353 2016
20
Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells. 61
27555326 2016
21
Do Pills Have No Ills? Capturing the Impact of Direct Treatment Disutility. 61
26645572 2016
22
Sero-Prevalence and Genetic Diversity of Pandemic V. parahaemolyticus Strains Occurring at a Global Scale. 61
27148244 2016
23
Reliability and Validity of the Korean Version of the Dimensions of Tobacco Dependence Scale for Adolescents. 61
25916840 2015
24
[Genetic characterization of Vibrio parahaemolyticus O3: K6 serovariant isolated in Shenzhen]. 61
25876490 2015
25
A dual-mode human computer interface combining speech and tongue motion for people with severe disabilities. 61
23475380 2013
26
2,2'-Dithienyl diselenide pro-oxidant activity accounts for antibacterial and antifungal activities. 61
23683588 2013
27
2,2'-Dithienyl diselenide, an organoselenium compound, elicits antioxidant action and inhibits monoamine oxidase activity in vitro. 61
22468748 2013
28
High doses of 2,2'-dithienyl diselenide cause systemic toxicity in rats: an in vitro and in vivo study. 61
22180340 2013
29
Comparison of heritabilities of dairy traits in Australian Holstein-Friesian cattle from genomic and pedigree data and implications for genomic evaluations. 61
23317062 2013
30
Population structure of clinical and environmental Vibrio parahaemolyticus from the Pacific Northwest coast of the United States. 61
23409028 2013
31
NCBI Bookshelf: books and documents in life sciences and health care. 61
23203889 2013
32
Substituted diazatetracyclo[4.4.0.1(3,10).1(5,8)]dodecanes as stable caged proton sponges. 61
22148544 2012
33
Protective effect of 2,2'-dithienyl diselenide on kainic acid-induced neurotoxicity in rat hippocampus. 61
21820494 2011
34
The benefits of digital thoracic drainage system for outpatients undergoing pulmonary resection surgery. 61
21680137 2011
35
A study of the inhibition/promotion effects of sodium-copper chlorophyllin (SCC)-mediated mutagenesis in somatic cells of Drosophila. 61
21406245 2011
36
The tissue microarray data exchange specification: Extending TMA DES to provide flexible scoring and incorporate virtual slides. 61
21572508 2011
37
NISO Z39.96The Journal Article Tag Suite (JATS): What Happened to the NLM DTDs? 61
22140303 2011
38
Using XML to encode TMA DES metadata. 61
21969921 2011
39
Differences in the smoking identities of adolescent boys and girls. 61
20965665 2011
40
A novel marker for the platyfish (Xiphophorus maculatus) W chromosome is derived from a Polinton transposon. 61
20347827 2010
41
Ligand-bound structures provide atomic snapshots for the catalytic mechanism of D-amino acid deacylase. 61
20007323 2010
42
Psychometric testing of the Chinese version of the Dimensions of Tobacco Dependence Scale. 61
19619205 2009
43
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
44
Dual-task decrements in gait: contributing factors among healthy older adults. 61
19126846 2008
45
Adolescents' self-defined tobacco use status, marijuana use, and tobacco dependence. 61
18571870 2008
46
Validation of the Dimensions of Tobacco Dependence Scale for adolescents. 61
17175114 2007
47
Sensing minute changes in biological cell monolayers with THz differential time-domain spectroscopy. 61
16621500 2007
48
Responding to desire to die statements from patients with advanced disease: recommendations for health professionals. 61
17060269 2006
49
Post-transfer editing mechanism of a D-aminoacyl-tRNA deacylase-like domain in threonyl-tRNA synthetase from archaea. 61
16902403 2006
50
An extensible automated protein annotation tool: standardizing input and output using validated XML. 61
16339285 2006

Variations for Parkinsonism-Dystonia, Infantile, 1

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

6 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC6A3 NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) SNV Pathogenic 16763 rs267607068 GRCh37: 5:1414859-1414859
GRCh38: 5:1414744-1414744
2 SLC6A3 NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) SNV Pathogenic 16764 rs267607069 GRCh37: 5:1411443-1411443
GRCh38: 5:1411328-1411328
3 SLC6A3 NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) SNV Pathogenic 97017 rs431905515 GRCh37: 5:1422112-1422112
GRCh38: 5:1421997-1421997
4 SLC6A3 NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) SNV Pathogenic 97018 rs431905516 GRCh37: 5:1406341-1406341
GRCh38: 5:1406226-1406226
5 SLC6A3 NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) Deletion Pathogenic 939537 GRCh37: 5:1420719-1420719
GRCh38: 5:1420604-1420604
6 SLC6A3 NM_001044.5(SLC6A3):c.1269+1G>A SNV Pathogenic 29685 rs431905504 GRCh37: 5:1411357-1411357
GRCh38: 5:1411242-1411242
7 SLC6A3 NM_001044.5(SLC6A3):c.1398+5G>A SNV Likely pathogenic 931466 GRCh37: 5:1409831-1409831
GRCh38: 5:1409716-1409716
8 SLC6A3 NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) SNV Likely pathogenic 807497 rs1579729357 GRCh37: 5:1443135-1443135
GRCh38: 5:1443020-1443020
9 SLC6A3 NM_001044.5(SLC6A3):c.1031+1G>A SNV Likely pathogenic 97016 rs431905514 GRCh37: 5:1416212-1416212
GRCh38: 5:1416097-1416097
10 SLC6A3 NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) SNV Uncertain significance 290889 rs28364997 GRCh37: 5:1403128-1403128
GRCh38: 5:1403013-1403013
11 SLC6A3 NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp) SNV Uncertain significance 470640 rs149444784 GRCh37: 5:1432627-1432627
GRCh38: 5:1432512-1432512
12 SLC6A3 NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys) SNV Uncertain significance 470637 rs763131939 GRCh37: 5:1394870-1394870
GRCh38: 5:1394755-1394755
13 SLC6A3 NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys) SNV Uncertain significance 470631 rs6350 GRCh37: 5:1443199-1443199
GRCh38: 5:1443084-1443084
14 SLC6A3 NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile) SNV Uncertain significance 538063 rs750843353 GRCh37: 5:1414875-1414875
GRCh38: 5:1414760-1414760
15 SLC6A3 NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) SNV Uncertain significance 538065 rs145114326 GRCh37: 5:1414807-1414807
GRCh38: 5:1414692-1414692
16 SLC6A3 NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu) SNV Uncertain significance 538066 rs149444784 GRCh37: 5:1432627-1432627
GRCh38: 5:1432512-1432512
17 SLC6A3 NM_001044.5(SLC6A3):c.1768-7_1768-6del Microsatellite Uncertain significance 538068 rs781468421 GRCh37: 5:1401107-1401108
GRCh38: 5:1400992-1400993
18 SLC6A3 NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe) SNV Uncertain significance 572335 rs1560928848 GRCh37: 5:1443098-1443098
GRCh38: 5:1442983-1442983
19 SLC6A3 NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met) SNV Uncertain significance 573687 rs372722904 GRCh37: 5:1401031-1401031
GRCh38: 5:1400916-1400916
20 SLC6A3 NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn) SNV Uncertain significance 579182 rs200712598 GRCh37: 5:1394856-1394856
GRCh38: 5:1394741-1394741
21 SLC6A3 NC_000005.9:g.(?_1394830)_(1394893_?)dup Duplication Uncertain significance 583705 GRCh37: 5:1394830-1394893
GRCh38: 5:1394715-1394778
22 SLC6A3 NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln) SNV Uncertain significance 640390 rs746351989 GRCh37: 5:1441516-1441516
GRCh38: 5:1441401-1441401
23 SLC6A3 NM_001044.5(SLC6A3):c.285C>T (p.Gly95=) SNV Uncertain significance 643877 rs201707183 GRCh37: 5:1443028-1443028
GRCh38: 5:1442913-1442913
24 SLC6A3 NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln) SNV Uncertain significance 644046 rs140639546 GRCh37: 5:1403163-1403163
GRCh38: 5:1403048-1403048
25 SLC6A3 NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro) SNV Uncertain significance 645067 rs149180162 GRCh37: 5:1443279-1443279
GRCh38: 5:1443164-1443164
26 SLC6A3 NM_001044.5(SLC6A3):c.661G>A (p.Val221Met) SNV Uncertain significance 650178 rs138948519 GRCh37: 5:1422122-1422122
GRCh38: 5:1422007-1422007
27 SLC6A3 NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln) SNV Uncertain significance 650844 rs774827862 GRCh37: 5:1443161-1443161
GRCh38: 5:1443046-1443046
28 SLC6A3 NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val) SNV Uncertain significance 653566 rs778416596 GRCh37: 5:1432784-1432784
GRCh38: 5:1432669-1432669
29 SLC6A3 NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr) SNV Uncertain significance 663071 rs1402133250 GRCh37: 5:1411411-1411411
GRCh38: 5:1411296-1411296
30 SLC6A3 NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala) SNV Uncertain significance 955718 GRCh37: 5:1416247-1416247
GRCh38: 5:1416132-1416132
31 SLC6A3 NM_001044.5(SLC6A3):c.653+5G>A SNV Uncertain significance 845591 GRCh37: 5:1432574-1432574
GRCh38: 5:1432459-1432459
32 SLC6A3 NM_001044.5(SLC6A3):c.287-16C>A SNV Uncertain significance 998405 GRCh37: 5:1441621-1441621
GRCh38: 5:1441506-1441506
33 SLC6A3 NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His) SNV Uncertain significance 1001511 GRCh37: 5:1401040-1401040
GRCh38: 5:1400925-1400925
34 SLC6A3 NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys) SNV Uncertain significance 1009823 GRCh37: 5:1401052-1401052
GRCh38: 5:1400937-1400937
35 SLC6A3 NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile) SNV Uncertain significance 835888 GRCh37: 5:1443280-1443280
GRCh38: 5:1443165-1443165
36 SLC6A3 NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) SNV Uncertain significance 851586 GRCh37: 5:1403201-1403201
GRCh38: 5:1403086-1403086
37 SLC6A3 NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=) SNV Uncertain significance 863321 GRCh37: 5:1411358-1411358
GRCh38: 5:1411243-1411243
38 SLC6A3 NC_000005.9:g.(?_1394830)_(1394893_?)dup Duplication Uncertain significance 1019641 GRCh37: 5:1394830-1394893
GRCh38:
39 SLC6A3 NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) SNV Uncertain significance 1022175 GRCh37: 5:1420713-1420713
GRCh38: 5:1420598-1420598
40 SLC6A3 NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=) SNV Uncertain significance 538064 rs769456530 GRCh37: 5:1403076-1403076
GRCh38: 5:1402961-1402961
41 SLC6A3 NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) SNV Uncertain significance 634445 rs577802449 GRCh37: 5:1414895-1414895
GRCh38: 5:1414780-1414780
42 SLC6A3 NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg) SNV Uncertain significance 936886 GRCh37: 5:1403068-1403068
GRCh38: 5:1402953-1402953
43 SLC6A3 NM_001044.5(SLC6A3):c.366G>C (p.Gln122His) SNV Uncertain significance 939536 GRCh37: 5:1441526-1441526
GRCh38: 5:1441411-1441411
44 SLC6A3 NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) SNV Uncertain significance 634445 rs577802449 GRCh37: 5:1414895-1414895
GRCh38: 5:1414780-1414780
45 SLC6A3 NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr) SNV Uncertain significance 963361 GRCh37: 5:1403156-1403156
GRCh38: 5:1403041-1403041
46 SLC6A3 NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) SNV Uncertain significance 538067 rs201800694 GRCh37: 5:1443243-1443243
GRCh38: 5:1443128-1443128
47 SLC6A3 NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) SNV Uncertain significance 377082 rs71653633 GRCh37: 5:1432733-1432733
GRCh38: 5:1432618-1432618
48 SLC6A3 NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg) SNV Uncertain significance 1036965 GRCh37: 5:1441474-1441474
GRCh38: 5:1441359-1441359
49 SLC6A3 NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp) SNV Uncertain significance 1042168 GRCh37: 5:1443162-1443162
GRCh38: 5:1443047-1443047
50 SLC6A3 NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln) SNV Uncertain significance 1043966 GRCh37: 5:1403041-1403041
GRCh38: 5:1402926-1402926

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....