MCID: TRS027
MIFTS: 20

Torsion Dystonia 4

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Torsion Dystonia 4

MalaCards integrated aliases for Torsion Dystonia 4:

Name: Torsion Dystonia 4 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0090041
ICD10 32 G24.1

Summaries for Torsion Dystonia 4

Disease Ontology : 12 A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has material basis in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.

MalaCards based summary : Torsion Dystonia 4 is related to dystonia 4, torsion, autosomal dominant and dystonia 23. An important gene associated with Torsion Dystonia 4 is TUBB4A (Tubulin Beta 4A Class IVa). Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Torsion Dystonia 4

Diseases in the Torsion Dystonia with Onset in Infancy family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Dystonia 7, Torsion
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

Diseases related to Torsion Dystonia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 dystonia 4, torsion, autosomal dominant 11.5
2 dystonia 23 10.3 CIZ1 ANO3
3 spastic monoplegia 10.3 TOR1A HPCA
4 dystonia 6, torsion 10.3 THAP1 CIZ1
5 cranio-facial dystonia 10.3 TOR1A THAP1
6 hereditary lymphedema ii 10.3 TOR1A THAP1
7 lymphatic malformation 5 10.3 TOR1A THAP1
8 hereditary dystonia 10.2 TUBB4A THAP1 ANO3
9 torticollis 10.2 TOR1A CIZ1
10 spasmodic dysphonia 10.2 TUBB4A TOR1A THAP1
11 spastic ataxia 8 10.2 TUBB4A PLP1
12 acute gonococcal prostatitis 10.2 TUBB4A TPO
13 dystonia 3, torsion, x-linked 10.2 TOR1A THAP1 HPCA
14 dystonia 24 10.1 THAP1 HPCA GNAL ANO3
15 alternating hemiplegia of childhood 10.1 THAP1 GNAL CIZ1 ANO3
16 pelizaeus-merzbacher-like disease 10.1 PLP1 HSPD1
17 hemidystonia 10.1 TOR1A THAP1 GNAL ANO3
18 focal hand dystonia 10.1 TOR1A THAP1 GNAL ANO3
19 dystonia 11, myoclonic 10.0 TOR1A THAP1 GNAL ANO3
20 benign familial infantile epilepsy 10.0 THAP1 KCNT1 CIZ1 ANO3
21 leukodystrophy, hypomyelinating, 4 10.0 PLP1 HSPD1 HIP1
22 developmental and epileptic encephalopathy 14 10.0 MECP2 KCNT1
23 dystonia 27 10.0 HPCA GNAL COL6A3 CIZ1 ANO3
24 landau-kleffner syndrome 10.0 MECP2 KCNT1
25 lennox-gastaut syndrome 10.0 MECP2 KCNT1 CIZ1
26 gluten allergy 10.0 TOR1A TGM2
27 blepharospasm 10.0 TOR1A THAP1 GNAL CIZ1 ANO3
28 cervical dystonia 10.0 TOR1A THAP1 GNAL CIZ1 ANO3
29 jejunoileitis 10.0 TOR1A TGM2
30 tropical sprue 9.9 TOR1A TGM2
31 gene duplication disease 9.9 PLP1 MECP2
32 dystonia, dopa-responsive 9.9 TOR1A THAP1
33 wheat allergy 9.9 TOR1A TGM2
34 neurodegeneration with brain iron accumulation 9.9 TOR1A THAP1 CP
35 leukodystrophy 9.9 TUBB4A PLP1 HSPD1 HEPACAM
36 immunoglobulin a deficiency 1 9.9 TOR1A TGM2
37 neonatal period electroclinical syndrome 9.9 MT-ATP6 MECP2 KCNT1
38 duodenitis 9.9 TOR1A TGM2
39 hypomyelinating leukodystrophy 9.9 TUBB4A PLP1 KCNT1 HSPD1
40 focal dystonia 9.9 TUBB4A TOR1A THAP1 GNAL CIZ1 ANO3
41 complement component 7 deficiency 9.9 HSPD1 CP
42 multifocal dystonia 9.8 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
43 dystonia 1, torsion, autosomal dominant 9.8 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
44 aspirin allergy 9.8 TPO TGM2
45 choreatic disease 9.8 TOR1A THAP1 GNAL CP
46 early myoclonic encephalopathy 9.8 MT-ATP6 MECP2 KCNT1
47 aceruloplasminemia 9.8 MT-ATP6 CP CIZ1
48 lymphocytic colitis 9.8 TOR1A TGM2
49 whipple disease 9.8 TOR1A TGM2 HSPD1
50 spasmodic dystonia 9.7 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1

Graphical network of the top 20 diseases related to Torsion Dystonia 4:



Diseases related to Torsion Dystonia 4

Symptoms & Phenotypes for Torsion Dystonia 4

GenomeRNAi Phenotypes related to Torsion Dystonia 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.4 TUBB4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.4 MECP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.4 MECP2 TUBB4A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.4 TUBB4A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.4 MECP2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.4 MECP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.4 MECP2 TUBB4A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.4 MECP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 MECP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.4 MECP2

MGI Mouse Phenotypes related to Torsion Dystonia 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 CIZ1 COL6A3 CP GNAL HIP1 HPCA
2 cellular MP:0005384 10.1 CIZ1 COL6A3 CP HIP1 HPCA HSPD1
3 growth/size/body region MP:0005378 10.07 CIZ1 COL6A3 GNAL HIP1 HSPD1 MECP2
4 nervous system MP:0003631 9.77 CP HEPACAM HIP1 HPCA HSPD1 KCNT1
5 muscle MP:0005369 9.7 COL6A3 HIP1 HSPD1 PLP1 PRNP TOR1A
6 vision/eye MP:0005391 9.28 COL6A3 CP HIP1 MECP2 PLP1 PRNP

Drugs & Therapeutics for Torsion Dystonia 4

Search Clinical Trials , NIH Clinical Center for Torsion Dystonia 4

Genetic Tests for Torsion Dystonia 4

Anatomical Context for Torsion Dystonia 4

MalaCards organs/tissues related to Torsion Dystonia 4:

40
Brain

Publications for Torsion Dystonia 4

Variations for Torsion Dystonia 4

Expression for Torsion Dystonia 4

Search GEO for disease gene expression data for Torsion Dystonia 4.

Pathways for Torsion Dystonia 4

GO Terms for Torsion Dystonia 4

Cellular components related to Torsion Dystonia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 TUBB4A TOR1A TGM2 PRNP HSPD1 GNAL
2 postsynapse GO:0098794 8.92 PRNP MECP2 HPCA HIP1

Biological processes related to Torsion Dystonia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.13 TOR1A PLP1 MECP2
2 response to oxidative stress GO:0006979 8.8 TPO TOR1A PRNP

Molecular functions related to Torsion Dystonia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 8.8 PRNP HSPD1 CP

Sources for Torsion Dystonia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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