MCID: DYS059
MIFTS: 26

Dystonia 16

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

Aliases & Classifications for Dystonia 16

MalaCards integrated aliases for Dystonia 16:

Name: Dystonia 16 57 12 53 59 75 29 13 6 15 73
Dyt16 57 53 59 75
Early-Onset Dystonia Parkinsonism 59
Young-Onset Dystonia- 53
Dystonia, Type 16 40
Dystonia-16 75

Characteristics:

Orphanet epidemiological data:

59
dystonia 16
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
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:

32
dystonia 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dystonia 16

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 210571Disease definitionDystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.EpidemiologyIt has been described in 8 patients from three Brazilian families and one German family to date.Clinical descriptionDisease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Pharmacological therapy is ineffective.EtiologyDYT16 is caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2.Genetic counselingDYT16 is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 16, also known as dyt16, is related to slc39a14 deficiency and dystonia 12, and has symptoms including pain in lower limb, torticollis and bradykinesia. An important gene associated with Dystonia 16 is PRKRA (Protein Activator Of Interferon Induced Protein Kinase EIF2AK2). Related phenotypes are delayed speech and language development 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.

UniProtKB/Swiss-Prot : 75 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.

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 slc39a14 deficiency 11.3
2 dystonia 12 10.9
3 dystonia 9.7

Symptoms & Phenotypes for Dystonia 16

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dystonia 16:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 dysarthria 32 HP:0001260
3 motor delay 32 HP:0001270
4 gait disturbance 32 HP:0001288
5 parkinsonism 32 HP:0001300
6 hyperreflexia 32 HP:0001347
7 dysphonia 32 HP:0001618
8 dysphagia 32 HP:0002015
9 morphological abnormality of the pyramidal tract 32 HP:0002062
10 bradykinesia 32 HP:0002067
11 postural tremor 32 HP:0002174
12 limb dystonia 32 HP:0002451
13 retrocollis 32 HP:0002544
14 involuntary movements 32 HP:0004305
15 abnormal pyramidal signs 32 HP:0007256
16 limb pain 32 HP:0009763
17 laryngeal dystonia 32 HP:0012049
18 lower limb pain 32 HP:0012514
19 cognitive impairment 32 occasional (7.5%) HP:0100543

UMLS symptoms related to Dystonia 16:


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

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 29 PRKRA

Anatomical Context for Dystonia 16

Publications for Dystonia 16

Articles related to Dystonia 16:

# Title Authors Year
1
Thiamine and dystonia 16. ( 27448549 )
2016

Variations for Dystonia 16

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

75
# Symbol AA change Variation ID SNP ID
1 PRKRA p.Pro222Leu VAR_046213 rs121434410

ClinVar genetic disease variations for Dystonia 16:

6
(show all 28)
# 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 Likely benign rs188208530 GRCh37 Chromosome 2, 179300866: 179300866
10 PRKRA NM_003690.4(PRKRA): c.784+6A> T single nucleotide variant Likely benign 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 GRCh38 Chromosome 2, 178447566: 178447566
14 PRKRA NM_003690.4(PRKRA): c.256C> G (p.Leu86Val) single nucleotide variant Uncertain significance 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 GRCh38 Chromosome 2, 178432188: 178432188
20 PRKRA NM_003690.4(PRKRA): c.851G> T (p.Cys284Phe) single nucleotide variant Uncertain significance rs199725025 GRCh37 Chromosome 2, 179296915: 179296915
21 PRKRA NM_003690.4(PRKRA): c.611C> G (p.Thr204Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 178436318: 178436318
22 PRKRA NM_003690.4(PRKRA): c.611C> G (p.Thr204Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 179301045: 179301045
23 PRKRA NM_003690.4(PRKRA): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 178444441: 178444441
24 PRKRA NM_003690.4(PRKRA): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 179309168: 179309168
25 PRKRA NM_003690.4(PRKRA): c.131T> C (p.Met44Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 178450346: 178450346
26 PRKRA NM_003690.4(PRKRA): c.131T> C (p.Met44Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 179315073: 179315073
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

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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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