MCID: DYS145
MIFTS: 22

Dystonia 23

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Ear diseases, Fetal 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 limb cramp, myoclonus and torticollis. An important gene associated with Dystonia 23 is CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B). Related phenotypes are torticollis and cerebellar atrophy

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 9.0 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
cerebellar atrophy (1 patient)
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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 cerebellar atrophy 32 occasional (7.5%) HP:0001272
3 gait disturbance 32 HP:0001288
4 myoclonus 32 HP:0001336
5 dysphonia 32 HP:0001618
6 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
7 head tremor 32 frequent (33%) HP:0002346
8 writer's cramp 32 HP:0002356
9 limb dystonia 32 HP:0002451
10 axial dystonia 32 HP:0002530
11 arrhythmia 32 occasional (7.5%) HP:0011675

UMLS symptoms related to Dystonia 23:


limb cramp, myoclonus, torticollis, dystonia, limb, 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

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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