DYT23
MCID: DYS145
MIFTS: 27

Dystonia 23 (DYT23)

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

Aliases & Classifications for Dystonia 23

MalaCards integrated aliases for Dystonia 23:

Name: Dystonia 23 58 12 60 76 30 13 6 74
Dyt23 58 60 76
Adult-Onset Cervical Dystonia, Dyt23 Type 60
Dystonia, Type 23 41

Characteristics:

Orphanet epidemiological data:

60
adult-onset cervical dystonia, dyt23 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
variable age at onset
myoclonus occurs at rest and with action
one family with a cacna1b mutation has been reported (last curated march 2015)


HPO:

33
dystonia 23:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Dystonia 23

UniProtKB/Swiss-Prot : 76 Dystonia 23: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.

MalaCards based summary : Dystonia 23, also known as dyt23, is related to focal dystonia and dystonia, and has symptoms including myoclonus, torticollis and dystonia, limb. An important gene associated with Dystonia 23 is CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B). Affiliated tissues include eye, and related phenotypes are dysphonia and myoclonus

Disease Ontology : 12 A focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has material basis in heterozygous mutation in the CACNA1B gene on chromosome 9q34.

Description from OMIM: 614860

Related Diseases for Dystonia 23

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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal dystonia 9.5 ANO3 CIZ1
2 dystonia 9.3 ANO3 CACNA1B CIZ1

Symptoms & Phenotypes for Dystonia 23

Human phenotypes related to Dystonia 23:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphonia 60 33 frequent (33%) Frequent (79-30%) HP:0001618
2 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
3 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
4 writer's cramp 60 33 frequent (33%) Frequent (79-30%) HP:0002356
5 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
6 head tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002346
7 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
8 axial dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002530
9 limb tremor 60 33 frequent (33%) Frequent (79-30%) HP:0200085
10 neck muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012893
11 supraventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005115
12 cerebral cortical atrophy 60 33 occasional (7.5%) Very rare (<4-1%) HP:0002120
13 cerebellar atrophy 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001272
14 hyperventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002883
15 panic attack 60 33 occasional (7.5%) Occasional (29-5%) HP:0025269
16 arrhythmia 33 occasional (7.5%) HP:0011675
17 gait disturbance 33 HP:0001288
18 focal dystonia 60 Frequent (79-30%)
19 limb dystonia 33 HP:0002451
20 craniofacial dystonia 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Voice:
dysphonia

Skeletal Hands:
writer's cramp

Head And Neck Face:
facial dystonia

Head And Neck Head:
head tremor (variable)

Skeletal Feet:
dystonic foot posturing

Neurologic Central Nervous System:
myoclonus
limb dystonia
axial dystonia
cervical dystonia
gait difficulties
more
Head And Neck Neck:
torticollis
cervical dystonia
hypertrophy of the sternocleidomastoid muscle

Cardiovascular Heart:
arrhythmias (in some patients)

Skeletal Limbs:
cramping of the limbs

Neurologic Behavioral Psychiatric Manifestations:
panic attacks (in some patients)
hyperventilation syndrome (in some patients)

Clinical features from OMIM:

614860

UMLS symptoms related to Dystonia 23:


myoclonus, torticollis, dystonia, limb, limb cramp, cervical dystonia

Drugs & Therapeutics for Dystonia 23

Search Clinical Trials , NIH Clinical Center for Dystonia 23

Genetic Tests for Dystonia 23

Genetic tests related to Dystonia 23:

# Genetic test Affiliating Genes
1 Dystonia 23 30 CACNA1B

Anatomical Context for Dystonia 23

MalaCards organs/tissues related to Dystonia 23:

42
Eye

Publications for Dystonia 23

Articles related to Dystonia 23:

# Title Authors Year
1
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. ( 25296916 )
2015
2
A new familial syndrome with dystonia and lower limb action myoclonus. ( 21370267 )
2011

Variations for Dystonia 23

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 23:

76
# Symbol AA change Variation ID SNP ID
1 CACNA1B p.Arg1389His VAR_073432 rs184841813

ClinVar genetic disease variations for Dystonia 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1B NM_000718.4(CACNA1B): c.4166G> A (p.Arg1389His) single nucleotide variant Pathogenic rs184841813 GRCh38 Chromosome 9, 138058108: 138058108
2 CACNA1B NM_000718.4(CACNA1B): c.4166G> A (p.Arg1389His) single nucleotide variant Pathogenic rs184841813 GRCh37 Chromosome 9, 140952560: 140952560
3 CACNA1B NM_000718.3(CACNA1B): c.5233A> G (p.Ser1745Gly) single nucleotide variant Uncertain significance rs1554758384 GRCh38 Chromosome 9, 138102721: 138102721
4 CACNA1B NM_000718.3(CACNA1B): c.5233A> G (p.Ser1745Gly) single nucleotide variant Uncertain significance rs1554758384 GRCh37 Chromosome 9, 140997173: 140997173

Expression for Dystonia 23

Search GEO for disease gene expression data for Dystonia 23.

Pathways for Dystonia 23

GO Terms for Dystonia 23

Sources for Dystonia 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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