MCID: DYS151
MIFTS: 22

Dystonia 25

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

Aliases & Classifications for Dystonia 25

MalaCards integrated aliases for Dystonia 25:

Name: Dystonia 25 57 12 59 75 29 6 73
Dyt25 57 59 75
Autosomal Dominant Focal Dystonia, Dyt25 Type 59
Dystonia, Type 25 40
Dystonia-25 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant focal dystonia, dyt25 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
dystonia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615073
Disease Ontology 12 DOID:0090055
ICD10 33 G24.1
Orphanet 59 ORPHA329466
ICD10 via Orphanet 34 G24.1
MeSH 44 D004421
UMLS 73 C3554447

Summaries for Dystonia 25

UniProtKB/Swiss-Prot : 75 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, is also known as dyt25, and has symptoms including torticollis, dystonia, limb and lingual dystonia. 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

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)

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.

Related Diseases for Dystonia 25

Symptoms & Phenotypes for Dystonia 25

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dystonia 25:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
2 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
3 axial dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002530
4 laryngeal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0012049
5 lingual dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0031008
6 focal dystonia 59 Very frequent (99-80%)
7 craniofacial dystonia 59 Frequent (79-30%)

UMLS symptoms related to Dystonia 25:


torticollis, dystonia, limb, lingual dystonia

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:

41
Tongue

Publications for Dystonia 25

Variations for Dystonia 25

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

75
# 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 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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