DYT25
MCID: DYS151
MIFTS: 22

Dystonia 25 (DYT25)

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

Aliases & Classifications for Dystonia 25

MalaCards integrated aliases for Dystonia 25:

Name: Dystonia 25 58 12 60 76 30 6 74
Dyt25 58 60 76
Autosomal Dominant Focal Dystonia, Dyt25 Type 60
Dystonia, Type 25 41
Dystonia-25 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant focal dystonia, dyt25 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
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:

33
dystonia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090055
OMIM 58 615073
MeSH 45 D004421
ICD10 34 G24.1
ICD10 via Orphanet 35 G24.1
Orphanet 60 ORPHA329466
UMLS 74 C3554447

Summaries for Dystonia 25

UniProtKB/Swiss-Prot : 76 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 dyt-gnal, and has symptoms including torticollis, lingual dystonia and dystonia, limb. An important gene associated with Dystonia 25 is GNAL (G Protein Subunit Alpha L). Affiliated tissues include tongue, and related phenotypes are torticollis and limb dystonia

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

OMIM : 58 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)

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

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

# Related Disease Score Top Affiliating Genes
1 dyt-gnal 11.4

Symptoms & Phenotypes for Dystonia 25

Human phenotypes related to Dystonia 25:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
2 limb dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002451
3 axial dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002530
4 laryngeal dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0012049
5 lingual dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0031008
6 focal dystonia 60 Very frequent (99-80%)
7 craniofacial dystonia 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Dystonia 25:


torticollis, lingual dystonia, dystonia, limb

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 30 GNAL

Anatomical Context for Dystonia 25

MalaCards organs/tissues related to Dystonia 25:

42
Tongue

Publications for Dystonia 25

Variations for Dystonia 25

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

76
# Symbol AA change Variation ID SNP ID
1 GNAL p.Val137Met VAR_069331 rs398122923
2 GNAL p.Glu155Lys VAR_069332 rs398122925

ClinVar genetic disease variations for Dystonia 25:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAL NM_001142339.2(GNAL): c.409G> A (p.Val137Met) single nucleotide variant Pathogenic rs398122923 GRCh37 Chromosome 18, 11824932: 11824932
2 GNAL NM_001142339.2(GNAL): c.409G> A (p.Val137Met) single nucleotide variant Pathogenic rs398122923 GRCh38 Chromosome 18, 11824933: 11824933
3 GNAL NM_001142339.2(GNAL): c.878C> A (p.Ser293Ter) single nucleotide variant Pathogenic rs398122924 GRCh37 Chromosome 18, 11872344: 11872344
4 GNAL NM_001142339.2(GNAL): c.878C> A (p.Ser293Ter) single nucleotide variant Pathogenic rs398122924 GRCh38 Chromosome 18, 11872345: 11872345
5 GNAL NM_001142339.2(GNAL): c.463G> A (p.Glu155Lys) single nucleotide variant Pathogenic rs398122925 GRCh37 Chromosome 18, 11824986: 11824986
6 GNAL NM_001142339.2(GNAL): c.463G> A (p.Glu155Lys) single nucleotide variant Pathogenic rs398122925 GRCh38 Chromosome 18, 11824987: 11824987
7 GNAL NM_182978.3(GNAL): c.514_515insT (p.Ser172Phefs) insertion Pathogenic rs398122926 GRCh37 Chromosome 18, 11753834: 11753834
8 GNAL NM_182978.3(GNAL): c.514_515insT (p.Ser172Phefs) insertion Pathogenic rs398122926 GRCh38 Chromosome 18, 11753835: 11753835
9 GNAL NM_182978.3(GNAL): c.822_823insA (p.Arg275Thrfs) insertion Pathogenic rs398122927 GRCh37 Chromosome 18, 11864576: 11864576
10 GNAL NM_182978.3(GNAL): c.822_823insA (p.Arg275Thrfs) insertion Pathogenic rs398122927 GRCh38 Chromosome 18, 11864577: 11864577
11 GNAL NM_001142339.2(GNAL): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs398122928 GRCh37 Chromosome 18, 11752493: 11752493
12 GNAL NM_001142339.2(GNAL): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs398122928 GRCh38 Chromosome 18, 11752494: 11752494

Expression for Dystonia 25

Search GEO for disease gene expression data for Dystonia 25.

Pathways for Dystonia 25

GO Terms for Dystonia 25

Sources for Dystonia 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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