DYT24
MCID: DYS146
MIFTS: 38

Dystonia 24 (DYT24)

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

Aliases & Classifications for Dystonia 24

MalaCards integrated aliases for Dystonia 24:

Name: Dystonia 24 56 12 58 73 29 13 6 15 71
Dyt24 56 58 73
Cranio-Cervical Dystonia with Laryngeal and Upper-Limb Involvement 58 17
Dystonia, Type 24 39
Dystonia-24 73

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Miscellaneous:
incomplete penetrance
average age at onset is 24 years (range 4 to 58 years)

Inheritance:
autosomal dominant


HPO:

31
dystonia 24:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090052
OMIM 56 615034
OMIM Phenotypic Series 56 PS128100
MeSH 43 D004421
ICD10 32 G24.8
ICD10 via Orphanet 33 G24.8
Orphanet 58 ORPHA420485
UMLS 71 C3554374

Summaries for Dystonia 24

UniProtKB/Swiss-Prot : 73 Dystonia 24: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.

MalaCards based summary : Dystonia 24, also known as dyt24, is related to dystonia 6, torsion and cervical dystonia, and has symptoms including head tremor and cervical dystonia. An important gene associated with Dystonia 24 is ANO3 (Anoctamin 3), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Amoebiasis. Affiliated tissues include eye, and related phenotypes are blepharospasm and torticollis

Disease Ontology : 12 A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has material basis in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.

OMIM : 56 Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012). (615034)

Related Diseases for Dystonia 24

Graphical network of the top 20 diseases related to Dystonia 24:



Diseases related to Dystonia 24

Symptoms & Phenotypes for Dystonia 24

Human phenotypes related to Dystonia 24:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharospasm 58 31 occasional (7.5%) Frequent (79-30%) HP:0000643
2 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
3 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
4 vocal tremor 58 31 frequent (33%) Frequent (79-30%) HP:0012477
5 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
6 oromandibular dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012048
7 abnormality of the larynx 58 31 occasional (7.5%) Occasional (29-5%) HP:0001600
8 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
9 upper limb postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0007351
10 head tremor 31 occasional (7.5%) HP:0002346

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
head tremor
dystonia, focal
tremor of the upper limb

Head And Neck Head:
head tremor (in some patients)

Head And Neck Eyes:
blepharospasm (in some patients)

Skeletal Limbs:
dystonic posturing of the upper limb

Head And Neck Teeth:
cervical dystonia

Head And Neck Face:
oromandibular dystonia (in some patients)

Respiratory Larynx:
laryngeal tremor

Voice:
voice tremor

Clinical features from OMIM:

615034

UMLS symptoms related to Dystonia 24:


head tremor, cervical dystonia

Drugs & Therapeutics for Dystonia 24

Search Clinical Trials , NIH Clinical Center for Dystonia 24

Genetic Tests for Dystonia 24

Genetic tests related to Dystonia 24:

# Genetic test Affiliating Genes
1 Dystonia 24 29 ANO3

Anatomical Context for Dystonia 24

MalaCards organs/tissues related to Dystonia 24:

40
Eye

Publications for Dystonia 24

Articles related to Dystonia 24:

(show all 19)
# Title Authors PMID Year
1
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. 56 6
23200863 2012
2
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 56 6
11009204 2000
3
Hereditary Dystonia Overview 6
20301334 2003
4
The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia. 61
30783550 2019
5
Youngest presenting patient with dystonia 24 and review of the literature. 61
30455893 2018
6
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. 61
27919237 2016
7
Diagnosis and Management of Dystonia. 61
27495206 2016
8
Recent advances in the genetics of dystonia. 61
24952478 2014
9
The phenotypic spectrum of DYT24 due to ANO3 mutations. 61
24442708 2014
10
Genetics in dystonia. 61
24262166 2014
11
Dystonia. 61
24092288 2013
12
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
13
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
14
Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients. 61
19353218 2009
15
Dystonia in Wilson's disease. 61
11481698 2001
16
[Drug-induced dystonia misinterpreted as hysteria]. 61
8644096 1996
17
Essential tremor and dystonia. 61
8232962 1993
18
[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients]. 61
1767088 1991
19
[Assessment of anti-arrhythmic activity of palpitin and cardio-hemodynamic effects of its administration]. 61
1699023 1990

Variations for Dystonia 24

ClinVar genetic disease variations for Dystonia 24:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO3 NM_031418.4(ANO3):c.1480A>T (p.Arg494Trp)SNV Pathogenic 39496 rs587776922 11:26619944-26619944 11:26598397-26598397
2 ANO3 NM_031418.4(ANO3):c.1470G>T (p.Trp490Cys)SNV Pathogenic 39497 rs1565132917 11:26619934-26619934 11:26598387-26598387
3 ANO3 NM_031418.4(ANO3):c.2053A>G (p.Ser685Gly)SNV Pathogenic 39498 rs587776923 11:26660700-26660700 11:26639153-26639153
4 ANO3 NM_031418.4(ANO3):c.2586G>T (p.Lys862Asn)SNV Pathogenic 39499 rs1277790116 11:26677681-26677681 11:26656134-26656134
5 ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)SNV Pathogenic/Likely pathogenic 641954 11:26619992-26619992 11:26598445-26598445
6 ANO3 NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr)SNV Likely pathogenic 807374 11:26655846-26655846 11:26634299-26634299
7 ANO3 NM_031418.4(ANO3):c.743A>C (p.Gln248Pro)SNV Uncertain significance 575627 rs1381117686 11:26552757-26552757 11:26531210-26531210
8 ANO3 NM_031418.4(ANO3):c.1968C>T (p.Ile656=)SNV Benign/Likely benign 241616 rs149050831 11:26655845-26655845 11:26634298-26634298

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 24:

73
# Symbol AA change Variation ID SNP ID
1 ANO3 p.Trp490Cys VAR_069732
2 ANO3 p.Arg494Trp VAR_069733 rs587776922
3 ANO3 p.Ser685Gly VAR_069734 rs587776923
4 ANO3 p.Lys862Asn VAR_069735 rs127779011

Expression for Dystonia 24

Search GEO for disease gene expression data for Dystonia 24.

Pathways for Dystonia 24

Pathways related to Dystonia 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 GNAL GNA15
2 10.96 GNAL GNA15
3 10.49 GNAL GNA15 GFER
4 10.23 GNAL GNA15 GFER

GO Terms for Dystonia 24

Cellular components related to Dystonia 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNAL GNA15

Biological processes related to Dystonia 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 8.62 GNAL GNA15

Molecular functions related to Dystonia 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.16 GNAL GNA15
2 G-protein beta/gamma-subunit complex binding GO:0031683 8.96 GNAL GNA15
3 guanyl nucleotide binding GO:0019001 8.62 GNAL GNA15

Sources for Dystonia 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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