MCID: DYS146
MIFTS: 40

Dystonia 24

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

Aliases & Classifications for Dystonia 24

MalaCards integrated aliases for Dystonia 24:

Name: Dystonia 24 57 12 59 75 29 13 6 15 73
Dyt24 57 59 75
Cranio-Cervical Dystonia with Laryngeal and Upper-Limb Involvement 59
Dystonia, Type 24 40
Dystonia-24 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dystonia 24:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615034
Disease Ontology 12 DOID:0090052
ICD10 33 G24.8
Orphanet 59 ORPHA420485
ICD10 via Orphanet 34 G24.8
MeSH 44 D004421
UMLS 73 C3554374

Summaries for Dystonia 24

UniProtKB/Swiss-Prot : 75 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 spasmodic dysphonia and spasmodic 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 Ras signaling pathway and Downstream signaling events of B Cell Receptor (BCR). Related phenotypes are torticollis and blepharospasm

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

OMIM : 57 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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 spasmodic dysphonia 10.1 THAP1 TOR1A
2 spasmodic dystonia 10.1 THAP1 TOR1A
3 oromandibular dystonia 10.1 THAP1 TOR1A
4 segmental dystonia 10.1 THAP1 TOR1A
5 focal hand dystonia 10.1 THAP1 TOR1A
6 blepharospasm 10.0 THAP1 TOR1A
7 cranio-facial dystonia 10.0 THAP1 TOR1A
8 dystonia 12 10.0 THAP1 TOR1A
9 lymphedema, hereditary, ii 9.9 THAP1 TOR1A
10 cervical dystonia 9.9 THAP1 TOR1A
11 early-onset generalized dystonia 9.8 ANO3 THAP1 TOR1A
12 hemidystonia 9.8 THAP1 TOR1A
13 focal dystonia 9.7 ANO3 THAP1 TOR1A
14 dystonia, dopa-responsive 9.7 THAP1 TOR1A
15 dystonia 9.5 ANO3 THAP1 TOR1A
16 gestational choriocarcinoma 9.5 CALM1 CALM3
17 dystonia 11, myoclonic 9.4 THAP1 TOR1A
18 acute dacryocystitis 9.1 CALM1 CALM2 CALM3
19 external ear disease 9.1 CALM1 CALM2 CALM3
20 long qt syndrome 15 9.1 CALM1 CALM2 CALM3
21 otitis externa 9.1 CALM1 CALM2 CALM3
22 otomycosis 9.1 CALM1 CALM2 CALM3
23 spontaneous ocular nystagmus 9.1 CALM1 CALM2 CALM3
24 sporotrichosis 9.1 CALM1 CALM2 CALM3
25 deafness, autosomal recessive 44 9.1 CALM1 CALM2 CALM3
26 triosephosphate isomerase deficiency 9.1 CALM1 CALM2 CALM3
27 leber congenital amaurosis 2 9.1 CALM1 CALM2 CALM3
28 primary systemic mycosis 9.0 CALM1 CALM2 CALM3
29 clear cell acanthoma 9.0 CALM1 CALM2 CALM3
30 cardiomyopathy, dilated, 1a 9.0 CALM1 CALM2 CALM3
31 cardiomyopathy, dilated, 1p 9.0 CALM1 CALM2 CALM3
32 deafness, autosomal dominant 2a 9.0 CALM1 CALM2 CALM3
33 primary cutaneous amyloidosis 9.0 CALM1 CALM2 CALM3
34 catecholaminergic polymorphic ventricular tachycardia 9.0 CALM1 CALM2 CALM3
35 long qt syndrome 1 9.0 CALM1 CALM2 CALM3
36 long qt syndrome 8.9 CALM1 CALM2 CALM3

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



Diseases related to Dystonia 24

Symptoms & Phenotypes for Dystonia 24

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
head tremor (in some patients)

Head And Neck Eyes:
blepharospasm (in some patients)

Respiratory Larynx:
laryngeal tremor

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

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

Head And Neck Teeth:
cervical dystonia

Skeletal Limbs:
dystonic posturing of the upper limb

Voice:
voice tremor


Clinical features from OMIM:

615034

Human phenotypes related to Dystonia 24:

32
# Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 blepharospasm 32 occasional (7.5%) HP:0000643
3 head tremor 32 occasional (7.5%) HP:0002346
4 oromandibular dystonia 32 occasional (7.5%) HP:0012048

UMLS symptoms related to Dystonia 24:


head tremor, cervical dystonia

GenomeRNAi Phenotypes related to Dystonia 24 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 CALM1 CALM2 CALM3 TOR1A

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

Publications for Dystonia 24

Variations for Dystonia 24

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

75
# 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

ClinVar genetic disease variations for Dystonia 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO3 NM_001313726.1(ANO3): c.1663A> T (p.Arg555Trp) single nucleotide variant Pathogenic rs587776922 GRCh37 Chromosome 11, 26619944: 26619944
2 ANO3 NM_001313726.1(ANO3): c.1663A> T (p.Arg555Trp) single nucleotide variant Pathogenic rs587776922 GRCh38 Chromosome 11, 26598397: 26598397
3 ANO3 ANO3, TRP490CYS single nucleotide variant Pathogenic
4 ANO3 NM_001313726.1(ANO3): c.2236A> G (p.Ser746Gly) single nucleotide variant Pathogenic rs587776923 GRCh37 Chromosome 11, 26660700: 26660700
5 ANO3 NM_001313726.1(ANO3): c.2236A> G (p.Ser746Gly) single nucleotide variant Pathogenic rs587776923 GRCh38 Chromosome 11, 26639153: 26639153
6 ANO3 ANO3, LYS862ASN single nucleotide variant Pathogenic
7 ANO3 NM_031418.3(ANO3): c.1968C> T (p.Ile656=) single nucleotide variant Benign/Likely benign rs149050831 GRCh38 Chromosome 11, 26634298: 26634298
8 ANO3 NM_031418.3(ANO3): c.1968C> T (p.Ile656=) single nucleotide variant Benign/Likely benign rs149050831 GRCh37 Chromosome 11, 26655845: 26655845

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:

(show top 50) (show all 88)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 CALM1 CALM2 CALM3
2
Show member pathways
12.58 CALM1 CALM2 CALM3
3
Show member pathways
12.58 CALM1 CALM2 CALM3
4
Show member pathways
12.57 CALM1 CALM2 CALM3
5
Show member pathways
12.55 CALM1 CALM2 CALM3
6
Show member pathways
12.53 CALM1 CALM2 CALM3
7
Show member pathways
12.52 CALM1 CALM2 CALM3
8
Show member pathways
12.52 CALM1 CALM2 CALM3
9
Show member pathways
12.51 CALM1 CALM2 CALM3
10
Show member pathways
12.47 CALM1 CALM2 CALM3
11
Show member pathways
12.46 CALM1 CALM2 CALM3
12
Show member pathways
12.45 CALM1 CALM2 CALM3
13
Show member pathways
12.44 CALM1 CALM2 CALM3
14
Show member pathways
12.42 CALM1 CALM2 CALM3
15
Show member pathways
12.41 CALM1 CALM2 CALM3
16
Show member pathways
12.4 CALM1 CALM2 CALM3
17
Show member pathways
12.38 CALM1 CALM2 CALM3
18
Show member pathways
12.37 ANO3 CALM1 CALM2 CALM3
19
Show member pathways
12.33 CALM1 CALM2 CALM3
20
Show member pathways
12.32 CALM1 CALM2 CALM3
21
Show member pathways
12.31 CALM1 CALM2 CALM3
22
Show member pathways
12.31 CALM1 CALM2 CALM3
23
Show member pathways
12.29 CALM1 CALM2 CALM3
24
Show member pathways
12.28 CALM1 CALM2 CALM3
25
Show member pathways
12.27 CALM1 CALM2 CALM3
26 12.26 CALM1 CALM2 CALM3
27
Show member pathways
12.25 CALM1 CALM2 CALM3
28
Show member pathways
12.24 CALM1 CALM2 CALM3
29
Show member pathways
12.22 CALM1 CALM2 CALM3
30
Show member pathways
12.22 CALM1 CALM2 CALM3
31
Show member pathways
12.21 CALM1 CALM2 CALM3
32
Show member pathways
12.19 CALM1 CALM2 CALM3
33
Show member pathways
12.16 CALM1 CALM2 CALM3
34
Show member pathways
12.16 CALM1 CALM2 CALM3
35
Show member pathways
12.15 CALM1 CALM2 CALM3
36
Show member pathways
12.14 CALM1 CALM2 CALM3
37 12.12 CALM1 CALM2 CALM3
38
Show member pathways
12.11 CALM1 CALM2 CALM3
39
Show member pathways
12.1 CALM1 CALM2 CALM3
40
Show member pathways
12.08 CALM1 CALM2 CALM3
41
Show member pathways
12.08 CALM1 CALM2 CALM3
42
Show member pathways
12.06 CALM1 CALM2 CALM3
43 12.06 CALM1 CALM2 CALM3
44
Show member pathways
12.04 CALM1 CALM2 CALM3
45
Show member pathways
12.02 CALM1 CALM2 CALM3
46 11.99 CALM1 CALM2 CALM3
47 11.98 CALM1 CALM2 CALM3
48
Show member pathways
11.94 CALM1 CALM2 CALM3
49
Show member pathways
11.92 CALM1 CALM2 CALM3
50
Show member pathways
11.9 CALM1 CALM2 CALM3

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 spindle GO:0005819 9.58 CALM1 CALM2 CALM3
2 vesicle GO:0031982 9.54 CALM1 CALM2 CALM3
3 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
4 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
5 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
6 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
7 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
3 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
4 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
5 regulation of heart rate GO:0002027 9.73 CALM1 CALM2 CALM3
6 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.72 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CALM1 CALM2 CALM3
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 CALM1 CALM2 CALM3
11 regulation of cardiac muscle contraction GO:0055117 9.65 CALM1 CALM2 CALM3
12 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
13 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
14 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.58 CALM1 CALM2 CALM3
15 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
16 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
17 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
18 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
19 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
20 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.63 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.58 CALM1 CALM2 CALM3
3 disordered domain specific binding GO:0097718 9.54 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.5 CALM1 CALM2 CALM3
5 calcium channel inhibitor activity GO:0019855 9.43 CALM1 CALM2
6 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
7 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
8 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
9 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Dystonia 24

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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