DYT4
MCID: DYT007
MIFTS: 12

Dyt-Tubb4a (DYT4)

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Dyt-Tubb4a

MalaCards integrated aliases for Dyt-Tubb4a:

Name: Dyt-Tubb4a 53
Autosomal Dominant Torsion Dystonia-4 53
Dystonia Musculorum Deformans 4 53
Hereditary Whispering Dysphonia 53
Whispering Dysphonia 53
Dyt4 53

Classifications:



Summaries for Dyt-Tubb4a

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98805DefinitionDYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).EpidemiologySo far, the disease has been reported in one large Australian family.Clinical descriptionThe age of onset varies from 13 to 37 years. Some patients develop generalized dystonia and psychiatric symptoms.EtiologyThe locus for DYT4 remains unknown.Genetic counselingThe disease is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dyt-Tubb4a, also known as autosomal dominant torsion dystonia-4, is related to dystonia 4, torsion, autosomal dominant and dystonia.

Related Diseases for Dyt-Tubb4a

Diseases related to Dyt-Tubb4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 dystonia 4, torsion, autosomal dominant 12.3
2 dystonia 10.4
3 dystonia 1, torsion, autosomal dominant 10.2
4 tubulin, beta 10.2
5 spasmodic dysphonia 10.2
6 obsolete: laryngeal dyskinesia 10.2
7 wilson disease 10.1
8 dystonia 7, torsion 10.1
9 dystonia 6, torsion 10.1
10 dystonia 15, myoclonic 10.1
11 dystonia 13, torsion, autosomal dominant 10.1
12 dystonia 16 10.1
13 segmental dystonia 10.1
14 hereditary dystonia 10.1
15 tubb4a-related leukodystrophy 10.1
16 tubulinopathies 10.1
17 dyt-thap1 10.1
18 dyt-tor1a 10.1
19 obsolete: autosomal dominant focal dystonia, dyt7 type 10.1

Graphical network of the top 20 diseases related to Dyt-Tubb4a:



Diseases related to Dyt-Tubb4a

Symptoms & Phenotypes for Dyt-Tubb4a

Drugs & Therapeutics for Dyt-Tubb4a

Search Clinical Trials , NIH Clinical Center for Dyt-Tubb4a

Genetic Tests for Dyt-Tubb4a

Anatomical Context for Dyt-Tubb4a

Publications for Dyt-Tubb4a

Articles related to Dyt-Tubb4a:

(show all 12)
# Title Authors PMID Year
1
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants. 38
30079973 2018
2
Screening study of TUBB4A in isolated dystonia. 38
28655586 2017
3
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 38
25545912 2015
4
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 38
24526230 2014
5
Pathogenic variants in TUBB4A are not found in primary dystonia. 38
24598712 2014
6
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 38
23424103 2013
7
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 38
23595291 2013
8
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 38
21956287 2011
9
Laryngeal dystonia: a series with botulinum toxin therapy. 38
1992905 1991
10
The psychiatric and social characteristics of patients with functional dysphonia. 38
3668886 1987
11
Generalized dystonia, whispering dysphonia and Wilson's disease in members of the same family. 38
3958727 1986
12
Hereditary whispering dysphonia. 38
3156966 1985

Variations for Dyt-Tubb4a

Expression for Dyt-Tubb4a

Search GEO for disease gene expression data for Dyt-Tubb4a.

Pathways for Dyt-Tubb4a

GO Terms for Dyt-Tubb4a

Sources for Dyt-Tubb4a

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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