MCID: TRS025
MIFTS: 21

Torsion Dystonia 2

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

Aliases & Classifications for Torsion Dystonia 2

MalaCards integrated aliases for Torsion Dystonia 2:

Name: Torsion Dystonia 2 12 15
Dystonia 2, Torsion, Autosomal Recessive 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0090038
ICD10 32 G24.1
UMLS 71 C1857093

Summaries for Torsion Dystonia 2

Disease Ontology : 12 A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.

MalaCards based summary : Torsion Dystonia 2, also known as dystonia 2, torsion, autosomal recessive, is related to dystonia 2, torsion, autosomal recessive and dystonia 23, and has symptoms including tremor and torticollis. An important gene associated with Torsion Dystonia 2 is HPCA (Hippocalcin), and among its related pathways/superpathways is NCAM1 interactions.

Related Diseases for Torsion Dystonia 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 dystonia 2, torsion, autosomal recessive 11.7
2 dystonia 23 10.4 CIZ1 ANO3
3 spastic monoplegia 10.4 TOR1A HPCA
4 cranio-facial dystonia 10.3 TOR1A THAP1
5 lymphatic malformation 5 10.3 TOR1A THAP1
6 hereditary lymphedema ii 10.3 TOR1A THAP1
7 torticollis 10.3 TOR1A CIZ1
8 dystonia 6, torsion 10.3 THAP1 HPCA CIZ1
9 dystonia 3, torsion, x-linked 10.2 TOR1A THAP1 HPCA
10 dystonia, dopa-responsive 10.2 TOR1A THAP1
11 dystonia 12 10.1 TOR1A THAP1 GNAL
12 jejunoileitis 10.1 TOR1A TGM2
13 cortical deafness 10.1 PRNP KCNT1
14 spasmodic dysphonia 10.1 TUBB4A TOR1A THAP1
15 gluten allergy 10.1 TOR1A TGM2
16 lymphocytic gastritis 10.1 TOR1A TGM2
17 tropical sprue 10.1 TOR1A TGM2
18 wheat allergy 10.1 TOR1A TGM2
19 dystonia 24 10.1 THAP1 HPCA GNAL ANO3
20 alternating hemiplegia of childhood 10.0 THAP1 GNAL CIZ1 ANO3
21 immunoglobulin a deficiency 1 10.0 TOR1A TGM2
22 lymphocytic colitis 10.0 TOR1A TGM2
23 duodenitis 10.0 TOR1A TGM2
24 whipple disease 10.0 TOR1A TGM2
25 alpha chain disease 10.0 TOR1A TGM2
26 giardiasis 10.0 TOR1A TGM2
27 hemidystonia 10.0 TOR1A THAP1 GNAL ANO3
28 benign familial infantile epilepsy 10.0 KCNT1 GNAL CIZ1 ANO3
29 focal hand dystonia 10.0 TOR1A THAP1 GNAL ANO3
30 balantidiasis 9.9 TPO PRNP
31 autoimmune disease of skin and connective tissue 9.9 TOR1A TGM2
32 aspirin allergy 9.9 TPO TGM2
33 dystonia 27 9.9 HPCA GNAL COL6A3 CIZ1 ANO3
34 microscopic colitis 9.9 TOR1A TGM2
35 torsion dystonia 4 9.9 TUBB4A HPCA GNAL CIZ1 ANO3
36 adrenal cortical hypofunction 9.9 TPO TOR1A
37 lactose intolerance 9.8 TOR1A TGM2
38 focal dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
39 blepharospasm 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
40 cervical dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
41 dystonia 11, myoclonic 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
42 immunoglobulin alpha deficiency 9.8 TOR1A TGM2
43 autoimmune disease of gastrointestinal tract 9.7 TPO TOR1A TGM2
44 neurodegeneration with brain iron accumulation 9.6 TOR1A THAP1 CP
45 multifocal dystonia 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
46 oromandibular dystonia 9.6 TUBB4A TOR1A THAP1 GNAL CIZ1 ANO3
47 spasmodic dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
48 segmental dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
49 dystonia 1, torsion, autosomal dominant 9.4 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
50 isolated dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3

Graphical network of the top 20 diseases related to Torsion Dystonia 2:



Diseases related to Torsion Dystonia 2

Symptoms & Phenotypes for Torsion Dystonia 2

UMLS symptoms related to Torsion Dystonia 2:


tremor, torticollis

Drugs & Therapeutics for Torsion Dystonia 2

Search Clinical Trials , NIH Clinical Center for Torsion Dystonia 2

Genetic Tests for Torsion Dystonia 2

Anatomical Context for Torsion Dystonia 2

Publications for Torsion Dystonia 2

Articles related to Torsion Dystonia 2:

# Title Authors PMID Year
1
[Dystonia in the child]. 61
3289110 1988

Variations for Torsion Dystonia 2

Expression for Torsion Dystonia 2

Search GEO for disease gene expression data for Torsion Dystonia 2.

Pathways for Torsion Dystonia 2

Pathways related to Torsion Dystonia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.19 PRNP COL6A3

GO Terms for Torsion Dystonia 2

Cellular components related to Torsion Dystonia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 TUBB4A TOR1A TGM2 SERPINF2 PRNP GNAL

Biological processes related to Torsion Dystonia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein targeting to membrane GO:0090314 9.16 PRNP HPCA
2 negative regulation of endopeptidase activity GO:0010951 9.13 SERPINF2 PRNP COL6A3
3 response to oxidative stress GO:0006979 8.8 TPO TOR1A PRNP

Sources for Torsion Dystonia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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