MCID: DYT007
MIFTS: 13

Dyt-Tubb4a

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Dyt-Tubb4a

MalaCards integrated aliases for Dyt-Tubb4a:

Name: Dyt-Tubb4a 54
Autosomal Dominant Torsion Dystonia 4 30 6
Dystonia, Type 4, Torsion, Autosomal Dominant 41
Autosomal Dominant Torsion Dystonia-4 54
Dystonia Musculorum Deformans 4 54
Hereditary Whispering Dysphonia 54
Whispering Dysphonia 54
Dyt4 54

Classifications:



Summaries for Dyt-Tubb4a

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98805Disease definitionDYT4 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, and has symptoms including torticollis and dystonia, limb. An important gene associated with Dyt-Tubb4a is TUBB4A (Tubulin Beta 4A Class IVa).

Related Diseases for Dyt-Tubb4a

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

# Related Disease Score Top Affiliating Genes
1 dystonia 4, torsion, autosomal dominant 12.2
2 dystonia 10.3

Symptoms & Phenotypes for Dyt-Tubb4a

UMLS symptoms related to Dyt-Tubb4a:


torticollis, dystonia, limb

Drugs & Therapeutics for Dyt-Tubb4a

Search Clinical Trials , NIH Clinical Center for Dyt-Tubb4a

Genetic Tests for Dyt-Tubb4a

Genetic tests related to Dyt-Tubb4a:

# Genetic test Affiliating Genes
1 Autosomal Dominant Torsion Dystonia 4 30 TUBB4A

Anatomical Context for Dyt-Tubb4a

Publications for Dyt-Tubb4a

Articles related to Dyt-Tubb4a:

# Title Authors Year
1
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. ( 23424103 )
2013
2
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. ( 23595291 )
2013
3
Autoregulated instability of beta-tubulin mRNAs by recognition of the nascent amino terminus of beta-tubulin. ( 3405308 )
1988
4
Hereditary whispering dysphonia. ( 3156966 )
1985

Variations for Dyt-Tubb4a

ClinVar genetic disease variations for Dyt-Tubb4a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB4A NM_006087.3(TUBB4A): c.4C> G (p.Arg2Gly) single nucleotide variant Pathogenic rs587776983 GRCh37 Chromosome 19, 6502220: 6502220
2 TUBB4A NM_006087.3(TUBB4A): c.4C> G (p.Arg2Gly) single nucleotide variant Pathogenic rs587776983 GRCh38 Chromosome 19, 6502209: 6502209
3 TUBB4A NM_001289123.1(TUBB4A): c.964G> A (p.Ala322Thr) single nucleotide variant Pathogenic rs587777074 GRCh37 Chromosome 19, 6495699: 6495699
4 TUBB4A NM_001289123.1(TUBB4A): c.964G> A (p.Ala322Thr) single nucleotide variant Pathogenic rs587777074 GRCh38 Chromosome 19, 6495688: 6495688
5 TUBB4A NM_006087.3(TUBB4A): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs587777428 GRCh38 Chromosome 19, 6495271: 6495271
6 TUBB4A NM_006087.3(TUBB4A): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs587777428 GRCh37 Chromosome 19, 6495282: 6495282

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
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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