DYT24
MCID: DYS146
MIFTS: 43

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


HPO:

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


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 dystonia and spasmodic dysphonia, 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 MAPK-Erk Pathway and Ras signaling pathway. Affiliated tissues include eye, and related phenotypes are myoclonus 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 41)
# Related Disease Score Top Affiliating Genes
1 dystonia 29.7 ANO3 THAP1 TOR1A
2 spasmodic dysphonia 10.0 THAP1 TOR1A
3 spasmodic dystonia 10.0 THAP1 TOR1A
4 oromandibular dystonia 10.0 THAP1 TOR1A
5 segmental dystonia 10.0 THAP1 TOR1A
6 blepharospasm 10.0 THAP1 TOR1A
7 focal hand dystonia 10.0 THAP1 TOR1A
8 dystonia 12 10.0 THAP1 TOR1A
9 cervical dystonia 10.0 THAP1 TOR1A
10 hemidystonia 10.0 THAP1 TOR1A
11 early-onset generalized dystonia 9.9 ANO3 THAP1 TOR1A
12 dystonia, dopa-responsive 9.9 THAP1 TOR1A
13 focal dystonia 9.9 ANO3 THAP1 TOR1A
14 dystonia 11, myoclonic 9.9 THAP1 TOR1A
15 lymphedema, hereditary, ii 9.8 THAP1 TOR1A
16 long qt syndrome 9.7 CALM1 CALM2 CALM3
17 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
18 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
19 otomycosis 9.7 CALM1 CALM2 CALM3
20 external ear disease 9.7 CALM1 CALM2 CALM3
21 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
22 sporotrichosis 9.7 CALM1 CALM2 CALM3
23 otitis externa 9.7 CALM1 CALM2 CALM3
24 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
25 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
26 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
27 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
28 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
29 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
30 tinea unguium 9.7 CALM1 CALM2 CALM3
31 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
32 clear cell acanthoma 9.7 CALM1 CALM2 CALM3
33 cardiomyopathy, dilated, 1a 9.7 CALM1 CALM2 CALM3
34 cardiomyopathy, dilated, 1p 9.7 CALM1 CALM2 CALM3
35 phaeohyphomycosis 9.7 CALM1 CALM2 CALM3
36 deafness, autosomal dominant 2a 9.7 CALM1 CALM2 CALM3
37 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.7 CALM1 CALM2 CALM3
38 ceroid lipofuscinosis, neuronal, 11 9.7 CALM1 CALM2 CALM3
39 primary cutaneous amyloidosis 9.7 CALM1 CALM2 CALM3
40 catecholaminergic polymorphic ventricular tachycardia 9.7 CALM1 CALM2 CALM3
41 cardiac arrest 9.7 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
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

Human phenotypes related to Dystonia 24:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
2 blepharospasm 59 32 occasional (7.5%) Frequent (79-30%) HP:0000643
3 oromandibular dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012048
4 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
5 abnormality of the larynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0001600
6 hand tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002378
7 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
8 upper limb postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0007351
9 vocal tremor 59 32 frequent (33%) Frequent (79-30%) HP:0012477
10 head tremor 32 occasional (7.5%) HP:0002346

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:

41
Eye

Publications for Dystonia 24

Articles related to Dystonia 24:

# Title Authors Year
1
Youngest presenting patient with dystonia 24 and review of the literature. ( 30455893 )
2018

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 NM_031418.2: c.1470G> T 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 NM_031418.2: c.2586G> T 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 95)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 CALM1 CALM2 CALM3
2
Show member pathways
12.59 CALM1 CALM2 CALM3
3
Show member pathways
12.59 CALM1 CALM2 CALM3
4
Show member pathways
12.59 CALM1 CALM2 CALM3
5
Show member pathways
12.57 CALM1 CALM2 CALM3
6
Show member pathways
12.56 CALM1 CALM2 CALM3
7
Show member pathways
12.54 CALM1 CALM2 CALM3
8
Show member pathways
12.53 CALM1 CALM2 CALM3
9
Show member pathways
12.53 CALM1 CALM2 CALM3
10
Show member pathways
12.52 CALM1 CALM2 CALM3
11
Show member pathways
12.49 CALM1 CALM2 CALM3
12
Show member pathways
12.48 CALM1 CALM2 CALM3
13
Show member pathways
12.47 CALM1 CALM2 CALM3
14
Show member pathways
12.45 CALM1 CALM2 CALM3
15
Show member pathways
12.43 CALM1 CALM2 CALM3
16
Show member pathways
12.42 CALM1 CALM2 CALM3
17
Show member pathways
12.4 CALM1 CALM2 CALM3
18
Show member pathways
12.39 CALM1 CALM2 CALM3
19
Show member pathways
12.37 ANO3 CALM1 CALM2 CALM3
20
Show member pathways
12.34 CALM1 CALM2 CALM3
21
Show member pathways
12.33 CALM1 CALM2 CALM3
22
Show member pathways
12.32 CALM1 CALM2 CALM3
23
Show member pathways
12.31 CALM1 CALM2 CALM3
24
Show member pathways
12.31 CALM1 CALM2 CALM3
25
Show member pathways
12.3 CALM1 CALM2 CALM3
26
Show member pathways
12.29 CALM1 CALM2 CALM3
27
Show member pathways
12.28 CALM1 CALM2 CALM3
28 12.26 CALM1 CALM2 CALM3
29
Show member pathways
12.25 CALM1 CALM2 CALM3
30
Show member pathways
12.24 CALM1 CALM2 CALM3
31
Show member pathways
12.23 CALM1 CALM2 CALM3
32
Show member pathways
12.22 CALM1 CALM2 CALM3
33
Show member pathways
12.22 CALM1 CALM2 CALM3
34
Show member pathways
12.21 CALM1 CALM2 CALM3
35
Show member pathways
12.2 CALM1 CALM2 CALM3
36
Show member pathways
12.16 CALM1 CALM2 CALM3
37
Show member pathways
12.16 CALM1 CALM2 CALM3
38
Show member pathways
12.14 CALM1 CALM2 CALM3
39 12.13 CALM1 CALM2 CALM3
40
Show member pathways
12.11 CALM1 CALM2 CALM3
41
Show member pathways
12.11 CALM1 CALM2 CALM3
42
Show member pathways
12.09 CALM1 CALM2 CALM3
43
Show member pathways
12.08 CALM1 CALM2 CALM3
44
Show member pathways
12.07 CALM1 CALM2 CALM3
45 12.06 CALM1 CALM2 CALM3
46
Show member pathways
12.05 CALM1 CALM2 CALM3
47
Show member pathways
12.03 CALM1 CALM2 CALM3
48 11.99 CALM1 CALM2 CALM3
49 11.99 CALM1 CALM2 CALM3
50
Show member pathways
11.95 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 neuron projection GO:0043005 9.65 CALM1 CALM3 TOR1A
2 spindle GO:0005819 9.63 CALM1 CALM2 CALM3
3 vesicle GO:0031982 9.61 CALM1 CALM2 CALM3
4 myelin sheath GO:0043209 9.58 CALM1 CALM2 CALM3
5 growth cone GO:0030426 9.54 CALM1 CALM3 TOR1A
6 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
7 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
8 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
9 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
10 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.77 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
6 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
9 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM1 CALM2 CALM3
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 CALM1 CALM2 CALM3
11 regulation of synaptic vesicle exocytosis GO:2000300 9.65 CALM1 CALM3
12 response to amphetamine GO:0001975 9.65 CALM1 CALM3
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 CALM1 CALM2 CALM3
14 activation of adenylate cyclase activity GO:0007190 9.64 CALM1 CALM3
15 positive regulation of DNA binding GO:0043388 9.64 CALM2 CALM3
16 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 CALM1 CALM3
17 response to corticosterone GO:0051412 9.63 CALM1 CALM3
18 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
19 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 CALM1 CALM3
20 regulation of synaptic vesicle endocytosis GO:1900242 9.62 CALM1 CALM3
21 establishment of protein localization to membrane GO:0090150 9.61 CALM1 CALM3
22 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
23 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
25 establishment of protein localization to mitochondrial membrane GO:0090151 9.56 CALM1 CALM3
26 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
29 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
30 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
31 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.8 CALM1 CALM2 CALM3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.72 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.65 CALM1 CALM2 CALM3
3 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
4 calcium-dependent protein binding GO:0048306 9.56 CALM1 CALM3
5 enzyme regulator activity GO:0030234 9.54 CALM1 CALM3
6 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
7 phosphatidylinositol 3-kinase binding GO:0043548 9.52 CALM1 CALM3
8 nitric-oxide synthase binding GO:0050998 9.51 CALM1 CALM3
9 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
10 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
11 nitric-oxide synthase regulator activity GO:0030235 9.46 CALM1 CALM3
12 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM1 CALM3
13 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
14 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
15 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
16 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
Content
Loading form....