DYT16
MCID: DYS059
MIFTS: 31

Dystonia 16 (DYT16)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 16

MalaCards integrated aliases for Dystonia 16:

Name: Dystonia 16 58 12 60 76 30 13 6 15 74
Dyt16 58 60 76
Early-Onset Dystonia Parkinsonism 60
Dystonia, Type 16 41
Dystonia-16 76

Characteristics:

Orphanet epidemiological data:

60
dystonia 16
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
some patients become wheelchair-bound
onset between 7 and 18 years
four unrelated families have been reported (last curated february 2015)


HPO:

33
dystonia 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Dystonia 16

UniProtKB/Swiss-Prot : 76 Dystonia 16: An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features.

MalaCards based summary : Dystonia 16, also known as dyt16, is related to dyt-prkra and slc39a14 deficiency, and has symptoms including involuntary movements, bradykinesia and torticollis. An important gene associated with Dystonia 16 is PRKRA (Protein Activator Of Interferon Induced Protein Kinase EIF2AK2). Affiliated tissues include eye, and related phenotypes are limb dystonia and dysarthria

Disease Ontology : 12 A multifocal dystonia characterized by autosomal recessive inheritance of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism that has material basis in homozygous mutation in the PRKRA gene on chromosome 2q31.

Description from OMIM: 612067

Related Diseases for Dystonia 16

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

Diseases related to Dystonia 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dyt-prkra 11.9
2 slc39a14 deficiency 11.5
3 dystonia 12 11.1
4 dystonia 9.8

Symptoms & Phenotypes for Dystonia 16

Human phenotypes related to Dystonia 16:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002451
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
4 dysphonia 60 33 frequent (33%) Frequent (79-30%) HP:0001618
5 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
6 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
7 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
8 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
9 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
10 lower limb pain 60 33 frequent (33%) Frequent (79-30%) HP:0012514
11 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
12 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
13 orofacial dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002310
14 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
15 cognitive impairment 33 occasional (7.5%) HP:0100543
16 intellectual disability 60 33 very rare (1%) Very rare (<4-1%) HP:0001249
17 gait disturbance 33 HP:0001288
18 delayed speech and language development 33 HP:0000750
19 dyskinesia 33 HP:0100660
20 involuntary movements 33 HP:0004305
21 laryngeal dystonia 33 HP:0012049
22 limb pain 33 HP:0009763
23 morphological abnormality of the pyramidal tract 33 HP:0002062
24 retrocollis 33 HP:0002544

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
dystonia
involuntary movements
postural tremor
more
Head And Neck Neck:
torticollis
retrocollis

Voice:
spasmodic dysphonia

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
grimacing
oromandibular dyskinesia

Clinical features from OMIM:

612067

UMLS symptoms related to Dystonia 16:


involuntary movements, bradykinesia, torticollis, pain in lower limb, abnormal pyramidal signs, grimacing, static tremor

MGI Mouse Phenotypes related to Dystonia 16:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 PJVK PRKRA

Drugs & Therapeutics for Dystonia 16

Search Clinical Trials , NIH Clinical Center for Dystonia 16

Genetic Tests for Dystonia 16

Genetic tests related to Dystonia 16:

# Genetic test Affiliating Genes
1 Dystonia 16 30 PRKRA

Anatomical Context for Dystonia 16

MalaCards organs/tissues related to Dystonia 16:

42
Eye

Publications for Dystonia 16

Articles related to Dystonia 16:

# Title Authors Year
1
Thiamine and dystonia 16. ( 27448549 )
2016
2
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. ( 26990861 )
2016
3
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. ( 25142429 )
2014
4
DYT16: the original cases. ( 22842711 )
2012
5
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. ( 18420150 )
2008
6
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. ( 18243799 )
2008
7
DYT16: a new twist to familial dystonia. ( 18243800 )
2008

Variations for Dystonia 16

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 16:

76
# Symbol AA change Variation ID SNP ID
1 PRKRA p.Pro222Leu VAR_046213 rs121434410

ClinVar genetic disease variations for Dystonia 16:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKRA NM_003690.4(PRKRA): c.665C> T (p.Pro222Leu) single nucleotide variant Pathogenic rs121434410 GRCh37 Chromosome 2, 179300991: 179300991
2 PRKRA NM_003690.4(PRKRA): c.665C> T (p.Pro222Leu) single nucleotide variant Pathogenic rs121434410 GRCh38 Chromosome 2, 178436264: 178436264
3 PRKRA NM_003690.4(PRKRA): c.267_268delTA (p.His89Glnfs) deletion Pathogenic rs730880307 GRCh37 Chromosome 2, 179312281: 179312282
4 PRKRA NM_003690.4(PRKRA): c.267_268delTA (p.His89Glnfs) deletion Pathogenic rs730880307 GRCh38 Chromosome 2, 178447554: 178447555
5 PRKRA NM_001139517.1(PRKRA): c.752-2_752-1insTATTTGGATATA insertion Uncertain significance rs751875722 GRCh37 Chromosome 2, 179296982: 179296983
6 PRKRA NM_001139517.1(PRKRA): c.752-2_752-1insTATTTGGATATA insertion Uncertain significance rs751875722 GRCh38 Chromosome 2, 178432255: 178432256
7 PRKRA NM_003690.4(PRKRA): c.610-11_610-10delCT deletion Benign/Likely benign rs138320145 GRCh38 Chromosome 2, 178436329: 178436330
8 PRKRA NM_003690.4(PRKRA): c.610-11_610-10delCT deletion Benign/Likely benign rs138320145 GRCh37 Chromosome 2, 179301056: 179301057
9 PRKRA NM_003690.4(PRKRA): c.784+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs188208530 GRCh37 Chromosome 2, 179300866: 179300866
10 PRKRA NM_003690.4(PRKRA): c.784+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs188208530 GRCh38 Chromosome 2, 178436139: 178436139
11 PRKRA NM_003690.4(PRKRA): c.795C> T (p.Ser265=) single nucleotide variant Benign rs150679361 GRCh38 Chromosome 2, 178432244: 178432244
12 PRKRA NM_003690.4(PRKRA): c.795C> T (p.Ser265=) single nucleotide variant Benign rs150679361 GRCh37 Chromosome 2, 179296971: 179296971
13 PRKRA NM_003690.4(PRKRA): c.256C> G (p.Leu86Val) single nucleotide variant Uncertain significance rs1311237497 GRCh38 Chromosome 2, 178447566: 178447566
14 PRKRA NM_003690.4(PRKRA): c.256C> G (p.Leu86Val) single nucleotide variant Uncertain significance rs1311237497 GRCh37 Chromosome 2, 179312293: 179312293
15 PRKRA NM_001139517.1(PRKRA): c.828C> T (p.Ser276=) single nucleotide variant Likely benign rs116833881 GRCh37 Chromosome 2, 179296905: 179296905
16 PRKRA NM_001139517.1(PRKRA): c.828C> T (p.Ser276=) single nucleotide variant Likely benign rs116833881 GRCh38 Chromosome 2, 178432178: 178432178
17 PRKRA NM_001139517.1(PRKRA): c.27_28ins57 (p.?) insertion Benign GRCh38 Chromosome 2, 178450416: 178450417
18 PRKRA NM_001139517.1(PRKRA): c.27_28ins57 (p.?) insertion Benign GRCh37 Chromosome 2, 179315143: 179315144
19 PRKRA NM_003690.4(PRKRA): c.851G> T (p.Cys284Phe) single nucleotide variant Uncertain significance rs199725025 GRCh37 Chromosome 2, 179296915: 179296915
20 PRKRA NM_003690.4(PRKRA): c.851G> T (p.Cys284Phe) single nucleotide variant Uncertain significance rs199725025 GRCh38 Chromosome 2, 178432188: 178432188
21 PRKRA NM_003690.4(PRKRA): c.611C> G (p.Thr204Arg) single nucleotide variant Uncertain significance rs1351253817 GRCh38 Chromosome 2, 178436318: 178436318
22 PRKRA NM_003690.4(PRKRA): c.611C> G (p.Thr204Arg) single nucleotide variant Uncertain significance rs1351253817 GRCh37 Chromosome 2, 179301045: 179301045
23 PRKRA NM_003690.4(PRKRA): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs1553597653 GRCh37 Chromosome 2, 179309168: 179309168
24 PRKRA NM_003690.4(PRKRA): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs1553597653 GRCh38 Chromosome 2, 178444441: 178444441
25 PRKRA NM_003690.4(PRKRA): c.131T> C (p.Met44Thr) single nucleotide variant Uncertain significance rs1553599437 GRCh37 Chromosome 2, 179315073: 179315073
26 PRKRA NM_003690.4(PRKRA): c.131T> C (p.Met44Thr) single nucleotide variant Uncertain significance rs1553599437 GRCh38 Chromosome 2, 178450346: 178450346
27 PRKRA NM_003690.4(PRKRA): c.766A> G (p.Ile256Val) single nucleotide variant Uncertain significance rs769913085 GRCh37 Chromosome 2, 179300890: 179300890
28 PRKRA NM_003690.4(PRKRA): c.766A> G (p.Ile256Val) single nucleotide variant Uncertain significance rs769913085 GRCh38 Chromosome 2, 178436163: 178436163
29 PRKRA NC_000002.12: g.(?_178432077)_(178591524_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 179296804: 179456251
30 PRKRA NC_000002.12: g.(?_178432077)_(178591524_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 178432077: 178591524

Expression for Dystonia 16

Search GEO for disease gene expression data for Dystonia 16.

Pathways for Dystonia 16

GO Terms for Dystonia 16

Sources for Dystonia 16

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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