DYT23
MCID: DYS145
MIFTS: 24

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 57 12 59 75 29 13 6 73
Dyt23 57 59 75
Adult-Onset Cervical Dystonia, Dyt23 Type 59
Dystonia, Type 23 40

Characteristics:

Orphanet epidemiological data:

59
adult-onset cervical dystonia, dyt23 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
dystonia 23:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dystonia 23

UniProtKB/Swiss-Prot : 75 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 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 dystonia 9.7 CACNA1B CIZ1

Symptoms & Phenotypes for Dystonia 23

Symptoms via clinical synopsis from OMIM:

57
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
gait difficulties
cervical dystonia
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

Human phenotypes related to Dystonia 23:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphonia 59 32 Frequent (79-30%) HP:0001618
2 myoclonus 59 32 Frequent (79-30%) HP:0001336
3 cerebral cortical atrophy 59 32 occasional (7.5%) Very rare (<4-1%) HP:0002120
4 writer's cramp 59 32 Frequent (79-30%) HP:0002356
5 cerebellar atrophy 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001272
6 torticollis 59 32 Frequent (79-30%) HP:0000473
7 head tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002346
8 axial dystonia 59 32 Frequent (79-30%) HP:0002530
9 gait disturbance 32 HP:0001288
10 arrhythmia 32 occasional (7.5%) HP:0011675
11 supraventricular arrhythmia 59 Occasional (29-5%)
12 difficulty walking 59 Frequent (79-30%)
13 unsteady gait 59 Frequent (79-30%)
14 focal dystonia 59 Frequent (79-30%)
15 hyperventilation 59 Occasional (29-5%)
16 panic attack 59 Occasional (29-5%)
17 limb dystonia 32 HP:0002451
18 craniofacial dystonia 59 Frequent (79-30%)
19 limb tremor 59 Frequent (79-30%)
20 neck muscle hypertrophy 59 Frequent (79-30%)

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 29 CACNA1B

Anatomical Context for Dystonia 23

MalaCards organs/tissues related to Dystonia 23:

41
Eye

Publications for Dystonia 23

Variations for Dystonia 23

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

75
# 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_000718.3(CACNA1B): c.4166G> A (p.Arg1389His) single nucleotide variant Pathogenic rs184841813 GRCh38 Chromosome 9, 138058108: 138058108
2 CACNA1B NM_000718.3(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 GRCh38 Chromosome 9, 138102721: 138102721
4 CACNA1B NM_000718.3(CACNA1B): c.5233A> G (p.Ser1745Gly) single nucleotide variant Uncertain significance 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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