DYT25
MCID: DYT003
MIFTS: 13

Dyt-Gnal (DYT25)

Categories: Rare diseases

Aliases & Classifications for Dyt-Gnal

MalaCards integrated aliases for Dyt-Gnal:

Name: Dyt-Gnal 24 53
Dyt25 24 53
Autosomal Dominant Focal Dystonia, Dyt25 Type 53
Adult Onset Cranial-Cervical Dystonia 53
Gnal-Related Dystonia 24
Dystonia-25 53

Characteristics:

GeneReviews:

24
Penetrance The penetrance for heterozygous dyt-gnal is currently unknown. the following asymptomatic heterozygotes for a gnal pathogenic variant have been reported:...

Classifications:



Summaries for Dyt-Gnal

MalaCards based summary : Dyt-Gnal, also known as dyt25, is related to dystonia 25 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Dyt-Gnal is GNAL (G Protein Subunit Alpha L). Affiliated tissues include brain and testes.

GeneReviews: NBK535640

Related Diseases for Dyt-Gnal

Diseases related to Dyt-Gnal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 25 10.5
2 alacrima, achalasia, and mental retardation syndrome 10.5
3 cervical dystonia 10.5
4 movement disease 10.5
5 dystonia 10.5
6 hypertonia 10.5
7 tremor 10.5
8 isolated dystonia 10.5

Graphical network of the top 20 diseases related to Dyt-Gnal:



Diseases related to Dyt-Gnal

Symptoms & Phenotypes for Dyt-Gnal

Drugs & Therapeutics for Dyt-Gnal

Search Clinical Trials , NIH Clinical Center for Dyt-Gnal

Genetic Tests for Dyt-Gnal

Anatomical Context for Dyt-Gnal

MalaCards organs/tissues related to Dyt-Gnal:

41
Brain, Testes

Publications for Dyt-Gnal

Articles related to Dyt-Gnal:

(show all 44)
# Title Authors PMID Year
1
GNAL mutation in isolated laryngeal dystonia. 38 4
27093447 2016
2
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. 38 4
24729450 2014
3
Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. 4
30536916 2019
4
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. 4
27222887 2016
5
Clinical and genetic features of cervical dystonia in a large multicenter cohort. 4
27123488 2016
6
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. 4
26810727 2016
7
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 4
27079681 2016
8
Timing, rates and spectra of human germline mutation. 4
26656846 2016
9
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype. 4
26725140 2016
10
TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia. 4
26506956 2015
11
Mutations in GNAL gene in 214 cases with isolated dystonia. 4
26365774 2015
12
Mutations in CIZ1 are not a major cause for dystonia in Germany. 4
25778706 2015
13
Novel GNAL mutations in two German patients with sporadic dystonia. 4
25382112 2014
14
Screening of mutations in GNAL in sporadic dystonia patients. 4
24408567 2014
15
Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. 4
24500857 2014
16
Mutations in GNAL: a novel cause of craniocervical dystonia. 4
24535567 2014
17
GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome. 4
24405754 2014
18
No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. 4
24222099 2014
19
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. 4
24151159 2014
20
Mutation screening of GNAL gene in patients with primary dystonia from Northeast China. 4
23759320 2013
21
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 4
23449625 2013
22
Mutations in GNAL cause primary torsion dystonia. 4
23222958 2013
23
Mutations in CIZ1 cause adult onset primary cervical dystonia. 4
22447717 2012
24
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. 4
21793105 2011
25
Novel THAP1 sequence variants in primary dystonia. 4
20083799 2010
26
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 4
19345147 2009
27
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 4
18414213 2008
28
G-protein signaling: back to the future. 4
15747061 2005
29
Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia. 4
11032382 2000
30
The DYT1 phenotype and guidelines for diagnostic testing. 4
10802779 2000
31
Mice deficient in G(olf) are anosmic. 4
9459443 1998
32
A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. 4
8309575 1994
33
Diverse mechanisms lead to common dysfunction of striatal cholinergic interneurons in distinct genetic mouse models of dystonia. 38
31320448 2019
34
DYT-GNAL 38
30605297 2019
35
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 38
29219190 2018
36
Inherited dystonias: clinical features and molecular pathways. 38
29325615 2018
37
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology. 38
28546310 2017
38
Diagnosis and Management of Dystonia. 38
27495206 2016
39
Inherited isolated dystonia: clinical genetics and gene function. 38
25155315 2014
40
Recent advances in the genetics of dystonia. 38
24952478 2014
41
Genetics in dystonia. 38
24262166 2014
42
Dystonia. 38
24092288 2013
43
Genetics of dystonia: what's known? What's new? What's next? 38
23893446 2013
44
Genetic issues in the diagnosis of dystonias. 38
23596437 2013

Variations for Dyt-Gnal

Expression for Dyt-Gnal

Search GEO for disease gene expression data for Dyt-Gnal.

Pathways for Dyt-Gnal

GO Terms for Dyt-Gnal

Sources for Dyt-Gnal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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