DYT25
MCID: DYS151
MIFTS: 40

Dystonia 25 (DYT25)

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

Aliases & Classifications for Dystonia 25

MalaCards integrated aliases for Dystonia 25:

Name: Dystonia 25 57 12 58 73 29 6 15 71
Dyt25 57 58 73
Autosomal Dominant Focal Dystonia, Dyt25 Type 58
Dystonia, Type 25 39
Dystonia-25 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant focal dystonia, dyt25 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average age at onset 31 years (range 7 to 54)
onset usually in the neck
dystonia is usually focal or segmental
generalized dystonia in some cases


HPO:

31
dystonia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090055
OMIM® 57 615073
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004421
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA329466
UMLS 71 C3554447

Summaries for Dystonia 25

UniProtKB/Swiss-Prot : 73 Dystonia 25: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.

MalaCards based summary : Dystonia 25, also known as dyt25, is related to isolated dystonia and dystonia, and has symptoms including torticollis, lingual dystonia and dystonia, limb. An important gene associated with Dystonia 25 is GNAL (G Protein Subunit Alpha L), and among its related pathways/superpathways are Prion disease and Ferroptosis. Affiliated tissues include tongue, brain and cortex, and related phenotypes are torticollis and limb dystonia

Disease Ontology : 12 A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has material basis in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.

OMIM® : 57 Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs (summary by Fuchs et al., 2013). (615073) (Updated 05-Mar-2021)

Related Diseases for Dystonia 25

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 Rare Dystonia

Diseases related to Dystonia 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 isolated dystonia 29.1 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3
2 dystonia 28.2 TUBB4A TOR1A THAP1 HPCA GNAL CP
3 dyt-gnal 11.1
4 dystonia 23 10.3 CIZ1 ANO3
5 dystonia 6, torsion 10.2 THAP1 CIZ1
6 spastic monoplegia 10.2 TOR1A HPCA
7 hereditary dystonia 10.2 TUBB4A ANO3
8 cranio-facial dystonia 10.2 TOR1A THAP1
9 torticollis 10.2 TOR1A CIZ1
10 hereditary lymphedema ii 10.2 TOR1A THAP1
11 lymphatic malformation 5 10.2 TOR1A THAP1
12 dystonia, dopa-responsive 10.1 TOR1A THAP1
13 gluten allergy 10.1 TOR1A TGM2
14 jejunoileitis 10.1 TOR1A TGM2
15 tropical sprue 10.1 TOR1A TGM2
16 dystonia 3, torsion, x-linked 10.1 TOR1A THAP1 HPCA
17 acute gonococcal prostatitis 10.1 TUBB4A TPO
18 whipple disease 10.0 TOR1A TGM2
19 wheat allergy 10.0 TOR1A TGM2
20 immunoglobulin a deficiency 1 10.0 TOR1A TGM2
21 spasmodic dysphonia 10.0 TUBB4A TOR1A THAP1
22 duodenitis 10.0 TOR1A TGM2
23 lymphocytic colitis 10.0 TOR1A TGM2
24 giardiasis 10.0 TOR1A TGM2
25 dystonia 24 10.0 THAP1 HPCA GNAL ANO3
26 alternating hemiplegia of childhood 10.0 THAP1 GNAL CIZ1 ANO3
27 lactose intolerance 10.0 TOR1A TGM2
28 microscopic colitis 10.0 TOR1A TGM2
29 aspirin allergy 10.0 TPO TGM2
30 adrenal cortical hypofunction 10.0 TPO TOR1A
31 hemidystonia 9.9 TOR1A THAP1 GNAL ANO3
32 focal hand dystonia 9.9 TOR1A THAP1 GNAL ANO3
33 immunoglobulin alpha deficiency 9.9 TOR1A TGM2
34 bullous skin disease 9.9 TOR1A TGM2
35 benign familial infantile epilepsy 9.9 THAP1 KCNT1 CIZ1 ANO3
36 dystonia 27 9.9 HPCA GNAL COL6A3 CIZ1 ANO3
37 neonatal period electroclinical syndrome 9.9 MT-ATP6 KCNT1
38 neurodegeneration with brain iron accumulation 1 9.8 TOR1A CP
39 blepharospasm 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
40 cervical dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
41 dystonia 11, myoclonic 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
42 adrenal cortex disease 9.8 TPO TOR1A
43 neurodegeneration with brain iron accumulation 9.7 TOR1A THAP1 CP
44 aceruloplasminemia 9.7 MT-ATP6 CP CIZ1
45 multifocal dystonia 9.7 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
46 dystonia 1, torsion, autosomal dominant 9.7 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
47 autoimmune disease of endocrine system 9.7 TPO TOR1A
48 choreatic disease 9.6 TOR1A THAP1 GNAL CP
49 focal dystonia 9.6 TUBB4A TOR1A THAP1 GNAL CIZ1 ANO3
50 celiac disease 1 9.6 TPO TOR1A TGM2

Graphical network of the top 20 diseases related to Dystonia 25:



Diseases related to Dystonia 25

Symptoms & Phenotypes for Dystonia 25

Human phenotypes related to Dystonia 25:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 58 31 Frequent (79-30%) HP:0000473
2 limb dystonia 58 31 Frequent (79-30%) HP:0002451
3 laryngeal dystonia 58 31 Frequent (79-30%) HP:0012049
4 lingual dystonia 58 31 Frequent (79-30%) HP:0031008
5 axial dystonia 58 Frequent (79-30%)
6 craniofacial dystonia 58 Frequent (79-30%)
7 focal dystonia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Voice:
dysphonia

Neurologic Central Nervous System:
limb dystonia
dystonia, focal

Head And Neck Face:
facial dystonia

Head And Neck Neck:
torticollis

Respiratory Larynx:
laryngeal dystonia

Head And Neck Mouth:
jaw dystonia
tongue dystonia

Clinical features from OMIM®:

615073 (Updated 05-Mar-2021)

UMLS symptoms related to Dystonia 25:


torticollis, lingual dystonia, dystonia, limb

MGI Mouse Phenotypes related to Dystonia 25:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 CIZ1 COL6A3 CP GNAL HPCA KCNT1

Drugs & Therapeutics for Dystonia 25

Search Clinical Trials , NIH Clinical Center for Dystonia 25

Genetic Tests for Dystonia 25

Genetic tests related to Dystonia 25:

# Genetic test Affiliating Genes
1 Dystonia 25 29 GNAL

Anatomical Context for Dystonia 25

MalaCards organs/tissues related to Dystonia 25:

40
Tongue, Brain, Cortex

Publications for Dystonia 25

Articles related to Dystonia 25:

(show all 27)
# Title Authors PMID Year
1
Mutations in GNAL cause primary torsion dystonia. 57 6
23222958 2013
2
A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. 57
8309575 1994
3
Striatal Dopamine Induced ERK Phosphorylation Is Altered in Mouse Models of Monogenic Dystonia. 61
33458877 2021
4
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia. 61
31678405 2020
5
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. 61
33488508 2020
6
Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. 61
31317229 2019
7
Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia. 61
31320448 2019
8
Nigral iron deposition in common tremor disorders. 61
30536988 2019
9
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 61
29219190 2018
10
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 61
28546310 2017
11
l-Dopa in dystonia: A modern perspective. 61
28389587 2017
12
Economics of botulinum toxin therapy: influence of the abobotulinumtoxinA package size on the costs of botulinum toxin therapy. 61
28465830 2017
13
Diagnosis and Management of Dystonia. 61
27495206 2016
14
GNAL mutation in isolated laryngeal dystonia. 61
27093447 2016
15
Inherited isolated dystonia: clinical genetics and gene function. 61
25155315 2014
16
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. 61
24729450 2014
17
Recent advances in the genetics of dystonia. 61
24952478 2014
18
Genetics in dystonia. 61
24262166 2014
19
Dystonia. 61
24092288 2013
20
Genetics of dystonia: what's known? What's new? What's next? 61
23893446 2013
21
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
22
[Neurosurgical management of dystonias]. 61
23196521 2012
23
[A survey about the accessibility to botulinum toxin therapy for dystonia]. 61
16629446 2006
24
Tardive dyskinesia--diagnostic issues, subsyndromes, and concurrent movement disorders: a study of state hospital inpatients referred to a movement disorder consultation service. 61
11824487 2001
25
Secondary dystonia and the DYTI gene. 61
9191768 1997
26
[Movement disorders induced by drugs: experience at a pharmaco-vigilance center over five years]. 61
8571280 1995
27
Anticholinergics in adult-onset focal dystonia. 61
7116238 1982

Variations for Dystonia 25

ClinVar genetic disease variations for Dystonia 25:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAL NM_182978.4(GNAL):c.640G>A (p.Val214Met) SNV Pathogenic 39967 rs398122923 18:11824932-11824932 18:11824933-11824933
2 GNAL NM_182978.4(GNAL):c.1109C>A (p.Ser370Ter) SNV Pathogenic 39968 rs398122924 18:11872344-11872344 18:11872345-11872345
3 GNAL NM_182978.4(GNAL):c.694G>A (p.Glu232Lys) SNV Pathogenic 39969 rs398122925 18:11824986-11824986 18:11824987-11824987
4 GNAL NM_182978.4(GNAL):c.514dup (p.Ser172fs) Duplication Pathogenic 39970 rs398122926 18:11753831-11753832 18:11753832-11753833
5 GNAL NM_182978.4(GNAL):c.822dup (p.Arg275fs) Duplication Pathogenic 39971 rs398122927 18:11864575-11864576 18:11864576-11864577
6 GNAL NM_182978.4(GNAL):c.377-359C>T SNV Pathogenic 39972 rs398122928 18:11752493-11752493 18:11752494-11752494
7 GNAL NM_182978.4(GNAL):c.505-5T>C SNV Pathogenic 626332 rs766177601 18:11753820-11753820 18:11753821-11753821
8 GNAL NM_182978.4(GNAL):c.964C>T (p.Arg322Ter) SNV Pathogenic 626333 rs1252185897 18:11868595-11868595 18:11868596-11868596
9 GNAL NM_182978.4(GNAL):c.764C>T (p.Thr255Ile) SNV Uncertain significance 803476 rs1598436429 18:11862435-11862435 18:11862436-11862436
10 GNAL NM_182978.4(GNAL):c.1163-7T>G SNV Benign 626331 rs3892113 18:11876613-11876613 18:11876614-11876614

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 25:

73
# Symbol AA change Variation ID SNP ID
1 GNAL p.Val137Met VAR_069331 rs398122923
2 GNAL p.Glu155Lys VAR_069332 rs398122925

Expression for Dystonia 25

Search GEO for disease gene expression data for Dystonia 25.

Pathways for Dystonia 25

Pathways related to Dystonia 25 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 TUBB4A PRNP MT-ATP6 GNAL
2 10.77 PRNP CP
3 10.52 PRNP COL6A3

GO Terms for Dystonia 25

Cellular components related to Dystonia 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.17 TUBB4A TOR1A TGM2 PRNP GNAL CP

Biological processes related to Dystonia 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein targeting to membrane GO:0090314 8.96 PRNP HPCA
2 response to oxidative stress GO:0006979 8.8 TPO TOR1A PRNP

Molecular functions related to Dystonia 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.23 TPO THAP1 TGM2 PRNP HPCA GNAL

Sources for Dystonia 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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