DYT3
MCID: DYS064
MIFTS: 45

Dystonia 3, Torsion, X-Linked (DYT3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 3, Torsion, X-Linked

MalaCards integrated aliases for Dystonia 3, Torsion, X-Linked:

Name: Dystonia 3, Torsion, X-Linked 57 20 43 73 71
X-Linked Dystonia-Parkinsonism 12 25 43 58 73 29 6 15
Dyt3 57 25 20 43 58 73
Lubag 25 20 43 58 73
Xdp 57 20 43 58 73
Dystonia-Parkinsonism, X-Linked 57 20 43 13
Torsion Dystonia-Parkinsonism, Filipino Type 57 20 43
X-Linked Torsion Dystonia-Parkinsonism Syndrome 20 43
X-Linked Dystonia-Parkinsonism Syndrome 20 43
Dystonia Musculorum Deformans 43 71
Dyt-Taf1 25 20
Torsion Dystonia-Parkinsonism Filipino Type 73
Dystonia-Parkinsonism, X-Linked; Xdp 57
X-Linked Dystonia-Parkinsonism/lubag 20
Dystonia, Torsion, X-Linked, Type 3 39
X-Linked Torsion Dystonia 3 73
Lubag Syndrome 58
Dystonia-3 73

Characteristics:

Orphanet epidemiological data:

58
x-linked dystonia-parkinsonism
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Philippines); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
onset in fourth decade
described predominantly in families from the philippines
symptoms begin focally, later segmental or generalized
women may be mildly affected
associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3


HPO:

31
dystonia 3, torsion, x-linked:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090057
OMIM® 57 314250
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004421
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 72 C1839130
Orphanet 58 ORPHA53351
MedGen 41 C1839130
UMLS 71 C0013423 C1839130

Summaries for Dystonia 3, Torsion, X-Linked

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 53351DefinitionX-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.EpidemiologyOver 500 cases of XDP have been reported in the literature to date, all occurring in the Philippines (Panay Island). The estimated prevalence in the Philippines is 1/322,000 and in the Province of Capiz it is at its highest with a prevalence of 1/4,000 in the male population.Clinical descriptionXDP affects mainly males, most female carriers are asymptomatic. The disease typically presents in adulthood (mean: 39 years) with either focal dystonia or, more commonly, parkinsonism. Focal dystonia affects mainly the jaw, neck, eyes and trunk, but also rarely the limbs, pharynx, larynx and tongue, leading to various manifestations such as difficulty with jaw opening and closing, blepharospasm, involuntary tongue protrusion, difficulty swallowing, retrocollis, trunk hyperextension, leg spasms, foot flexion, and foot inversion. Within 2-5 years after onset, 50% of patients have generalized dystonia. Parkinsonism manifests with bradykinesia, rigidity, resting tremor, shuffling gait and postural instability, which may be severe and can lead to walking impairment and frequent stumbling. Less common findings include sensory tricks, myoclonus, chorea and myorhythmia. In those with pure parkinsonism, the disease progresses slowly and is usually non-disabling. Most who develop orobuccolingual and cervical dystonia suffer from lethal complications such as infections, aspiration pneumonia and laryngeal stridor, leading to premature death. Mean duration of illness is 13-16 years.EtiologyXDP is due to mutations in the TAF1 gene (Xq13.1) encoding the TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kDa.Diagnostic methodsDiagnosis is based on clinical and neuroimaging findings (of postsynaptic striatal and presynaptic nigrostriatal involvement), as well as having a positive family history compatible with X-linked inheritance and maternal Panay Island ancestral roots. MRI usually shows no abnormalities. Molecular genetic testing can confirm the diagnosis by identifying a TAF1 mutation. Preliminary results from a pilot study indicate olfactory dysfunction in XDP, therefore olfactory testing may also support diagnosis.Differential diagnosisDifferential diagnoses include Parkinson's disease, hereditary essential tremor, dopa-responsive dystonia and Parkinson-plus syndromes.Antenatal diagnosisPrenatal diagnosis is possible in families with a known TAF1 mutation.Genetic counselingXDP is inherited in an X-linked recessive manner and genetic counseling is recommended. Males with XDP pass the mutation to all of their daughters and none of their sons, whereas female carriers have a 50% chance of passing the mutation to their offspring. Rare de novo mutations have been reported.Management and treatmentThere is no cure for XDP. Treatment involves the use of pharmacological agents and offers only temporary or partial relief. In the early stages of dystonia, benzodiazepines and anticholinergic agents may be effective, especially in combination. Botulinum toxin injections may relieve focal dystonia. Tetrabenazine and zolpidem can improve dystonia once it becomes generalized or multifocal. Those with pure parkinsonism may be responsive to levodopa. Deep brain stimulation has shown promise in a few cases with advanced disease refractory to medication. Periodic swallowing evaluation is recommended, especially in those with dysphagia. Physical therapy may be helpful. Psychological counseling should be offered to patients and their families.PrognosisPrognosis is phenotype-dependent. Those with pure parkinsonism have the best prognosis, while those with a combination of parkinsonism followed by the development of orobuccolingual and cervical dystonia, 1-2 years after disease onset, have the worst prognosis, usually becoming bedridden with a reduced life expectancy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 3, Torsion, X-Linked, also known as x-linked dystonia-parkinsonism, is related to dystonia 1, torsion, autosomal dominant and dystonia 12, and has symptoms including tremor, myoclonus and dystonia. An important gene associated with Dystonia 3, Torsion, X-Linked is TAF1 (TATA-Box Binding Protein Associated Factor 1). The drug Mung bean has been mentioned in the context of this disorder. Affiliated tissues include tongue, caudate nucleus and brain, and related phenotypes are chorea and myoclonus

Disease Ontology : 12 A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.

MedlinePlus Genetics : 43 X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women.Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls.Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking.The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.

UniProtKB/Swiss-Prot : 73 Dystonia 3, torsion, X-linked: An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease.

Wikipedia : 74 X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a... more...

More information from OMIM: 314250 PS128100
GeneReviews: NBK1489

Related Diseases for Dystonia 3, Torsion, X-Linked

Diseases related to Dystonia 3, Torsion, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 31.8 TOR1A THAP1 SGCE HPCA
2 dystonia 12 30.6 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
3 hereditary dystonia 30.5 GCH1 ATP1A3
4 cervical dystonia 30.3 TOR1A THAP1 SGCE GCH1
5 oromandibular dystonia 30.1 TOR1A THAP1 SGCE GCH1 ATP1A3
6 blepharospasm 29.6 TOR1A THAP1 TAF1L TAF1 SGCE GCH1
7 parkinson disease, late-onset 29.6 TOR1A TBP TAF1L TAF1 GCH1
8 choreatic disease 29.5 TOR1A THAP1 TBP SGCE PNKD GCH1
9 isolated dystonia 29.3 TOR1A THAP1 HPCA GCH1
10 focal dystonia 28.8 TOR1A THAP1 TBP TAF1L TAF1 SGCE
11 movement disease 28.6 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
12 dystonia 28.5 TOR1A THAP1 TBP TAF1 SGCE PRKRA
13 dystonia 2, torsion, autosomal recessive 11.6
14 dystonia 4, torsion, autosomal dominant 11.6
15 early-onset generalized limb-onset dystonia 11.4
16 cerebral palsy 10.5
17 parkinsonism 10.5
18 chorea, childhood-onset, with psychomotor retardation 10.4
19 dysphagia 10.4
20 torticollis 10.3
21 spasmodic dysphonia 10.2 TOR1A THAP1
22 cranio-facial dystonia 10.2 TOR1A THAP1
23 myoclonus 10.2
24 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
25 retinitis pigmentosa 10.2
26 basal ganglia calcification 10.2
27 neuroretinitis 10.2
28 clubfoot 10.2
29 retinitis 10.2
30 dyt1 early-onset isolated dystonia 10.2
31 piriformis syndrome 10.2
32 head injury 10.2
33 oculogyric crisis 10.2 GCH1 ATP1A3
34 benign familial infantile epilepsy 10.1 THAP1 PNKD ATP1A3
35 leber optic atrophy and dystonia 10.1 SGCE GCH1
36 focal hand dystonia 10.1 TOR1A THAP1 SGCE
37 neurodegeneration with brain iron accumulation 10.1 TOR1A THAP1 ATP1A3
38 multiple system atrophy 1 10.1
39 supravalvular aortic stenosis 10.1
40 supranuclear palsy, progressive, 1 10.1
41 impulse control disorder 10.1
42 pathological gambling 10.1
43 gonadal dysgenesis 10.1
44 turner syndrome 10.1
45 essential tremor 10.1
46 basal ganglia disease 10.1
47 spasticity 10.1
48 ritter's disease 10.1 DSC3 DSC2
49 dystonia 24 10.1 THAP1 HPCA
50 arrhythmogenic right ventricular dysplasia, familial, 5 10.1 DSC3 DSC2

Graphical network of the top 20 diseases related to Dystonia 3, Torsion, X-Linked:



Diseases related to Dystonia 3, Torsion, X-Linked

Symptoms & Phenotypes for Dystonia 3, Torsion, X-Linked

Human phenotypes related to Dystonia 3, Torsion, X-Linked:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
2 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
3 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
4 torsion dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001304
5 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
6 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
7 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
8 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
9 resting tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002322
10 progressive extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007158
11 parkinsonism with favorable response to dopaminergic medication 58 31 frequent (33%) Frequent (79-30%) HP:0002548
12 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
13 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
14 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
15 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
16 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
17 impaired oropharyngeal swallow response 58 31 occasional (7.5%) Occasional (29-5%) HP:0031162
18 laryngeal stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006511
19 tremor 31 HP:0001337
20 focal dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
chorea
myoclonus
torsion dystonia
focal tremor
chorea-ballism
more
Head And Neck Eyes:
spasmodic eye blinking

Clinical features from OMIM®:

314250 (Updated 05-Mar-2021)

UMLS symptoms related to Dystonia 3, Torsion, X-Linked:


tremor, myoclonus, dystonia, torticollis, dystonia, paroxysmal, dystonia, limb

MGI Mouse Phenotypes related to Dystonia 3, Torsion, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ATP1A3 DSC3 GCH1 HPCA PNKD PRKRA
2 nervous system MP:0003631 9.36 ATP1A3 DSC3 GCH1 HPCA PNKD PRKRA

Drugs & Therapeutics for Dystonia 3, Torsion, X-Linked

Drugs for Dystonia 3, Torsion, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mung bean Approved

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MINGO Supplemental Trial in X-linked Dystonia Parkinsonism Patients: A Prospective Randomized, Open-labeled, Parallel Group Trial Completed NCT03019458

Search NIH Clinical Center for Dystonia 3, Torsion, X-Linked

Genetic Tests for Dystonia 3, Torsion, X-Linked

Genetic tests related to Dystonia 3, Torsion, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Dystonia-Parkinsonism 29 TAF1

Anatomical Context for Dystonia 3, Torsion, X-Linked

MalaCards organs/tissues related to Dystonia 3, Torsion, X-Linked:

40
Tongue, Caudate Nucleus, Brain, Eye, Cortex, Prefrontal Cortex, Globus Pallidus

Publications for Dystonia 3, Torsion, X-Linked

Articles related to Dystonia 3, Torsion, X-Linked:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. 25 61 57 6
17273961 2007
2
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women. 57 61 25
15596620 2004
3
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. 61 57 25
12928496 2003
4
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism. 57 25
15912496 2005
5
Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis. 25 57
1975433 1990
6
X-linked recessive torsion dystonia in the Philippines. 25 57
2368812 1990
7
Torsion dystonia in Panay, Philippines. 57 25
941767 1976
8
ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1. 57 61
11714101 2001
9
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). 57 61
10493831 1999
10
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. 61 57
7668293 1995
11
DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). 61 57
7829058 1994
12
Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. 57 61
1550125 1992
13
Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. 61 57
1672807 1991
14
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. 61 25
29229810 2017
15
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. 25 61
28236370 2017
16
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. 61 25
28017799 2017
17
Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. 25 61
28094105 2017
18
Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. 61 25
27481033 2016
19
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. 61 25
26769797 2016
20
Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? 25 61
25004170 2014
21
Bilateral pallidal deep brain stimulation for X-linked dystonia-parkinsonism. 25 61
24076056 2014
22
Impulse control disorder in a patient with X-linked dystonia-parkinsonism after bilateral pallidal deep brain stimulation. 25 61
23920134 2013
23
Depression in X-linked dystonia-parkinsonism: a case-control study. 61 25
23706616 2013
24
Pathological gambling in X-linked dystonia Parkinsonism. 61 25
23629417 2013
25
Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism. 25 61
23599389 2013
26
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. 25 61
23389859 2013
27
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. 25 61
23184149 2013
28
The promise of deep brain stimulation in X-linked dystonia parkinsonism. 61 25
21244299 2011
29
The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part II): an open-label experience with botulinum toxin-A (Dysport®) injections for oromandibular, lingual, and truncal-axial dystonias. 25 61
21348790 2011
30
Understanding XDP through imaging, pathology, and genetics. 61 25
21034368 2011
31
Bilateral pallidal stimulation for x-linked dystonia parkinsonism. 61 25
20697054 2010
32
Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag). 25 61
20714213 2010
33
First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation. 61 25
17579361 2007
34
The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism. 25 61
17668393 2007
35
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). 61 25
17377924 2007
36
Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. 25 61
15465396 2004
37
Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. 25 61
12465067 2002
38
Zolpidem improves dystonia in "Lubag" or X-linked dystonia-parkinsonism syndrome. 61 25
11865155 2002
39
Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. 25 61
8351010 1993
40
Positron emission tomographic findings in Filipino X-linked dystonia-parkinsonism. 61 25
8338342 1993
41
Delineation of the dystonia-parkinsonism syndrome locus in Xq13. 57
1518853 1992
42
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag"). 25
21047175 2011
43
Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia. 25
19514062 2009
44
Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. 25
17952504 2007
45
The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP). 25
12217620 2002
46
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? 25
11835466 2002
47
Zolpidem in progressive supranuclear palsy. 25
10447452 1999
48
Zolpidem in Parkinson's disease. 25
9130951 1997
49
Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism. 61
33227492 2021
50
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism. 61
33439365 2021

Variations for Dystonia 3, Torsion, X-Linked

ClinVar genetic disease variations for Dystonia 3, Torsion, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAF1 TAF1, SVA RETROTRANSPOSON INSERTION Insertion Pathogenic 9862
2 TAF1 NR_104387.1(TAF1):n.5894C>T SNV Pathogenic 21011 rs397509359 X:70749635-70749635 X:71529785-71529785
3 TAF1 NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala) SNV Uncertain significance 417915 rs1060499594 X:70641201-70641201 X:71421351-71421351

Expression for Dystonia 3, Torsion, X-Linked

Search GEO for disease gene expression data for Dystonia 3, Torsion, X-Linked.

Pathways for Dystonia 3, Torsion, X-Linked

GO Terms for Dystonia 3, Torsion, X-Linked

Cellular components related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite membrane GO:0032590 9.26 SGCE HPCA
2 neuronal cell body membrane GO:0032809 9.16 HPCA ATP1A3
3 desmosome GO:0030057 8.96 DSC3 DSC2
4 transcription factor TFIID complex GO:0005669 8.92 TBP TAF1L TAF13 TAF1

Biological processes related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.62 TBP TAF1L TAF13 TAF1
2 protein stabilization GO:0050821 9.61 TAF1 PRKRA DSC3
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.56 TBP TAF1L TAF13 TAF1
4 regulation of signal transduction by p53 class mediator GO:1901796 9.46 TBP TAF1L TAF13 TAF1
5 transcription initiation from RNA polymerase I promoter GO:0006361 9.4 TBP TAF1
6 neuromuscular process controlling posture GO:0050884 9.37 PNKD GCH1
7 RNA polymerase II preinitiation complex assembly GO:0051123 9.13 TBP TAF1L TAF1
8 DNA-templated transcription, initiation GO:0006352 8.92 TBP TAF1L TAF13 TAF1

Molecular functions related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 SGCE HPCA GCH1 DSC3 DSC2
2 lysine-acetylated histone binding GO:0070577 9.32 TAF1L TAF1
3 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.26 TBP TAF1
4 TBP-class protein binding GO:0017025 9.13 TAF1L TAF13 TAF1
5 RNA polymerase II general transcription initiation factor activity GO:0016251 8.92 TBP TAF1L TAF13 TAF1

Sources for Dystonia 3, Torsion, X-Linked

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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