MCID: TRS025
MIFTS: 24

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 29 6 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 phenotype is behavior/neurological.

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 52)
# Related Disease Score Top Affiliating Genes
1 dystonia 2, torsion, autosomal recessive 11.7
2 dystonia 23 10.4 CIZ1 ANO3
3 spastic monoplegia 10.3 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 10.2 THAP1 HPCA CIZ1
9 dystonia 3, torsion, x-linked 10.1 TOR1A THAP1 HPCA
10 dystonia, dopa-responsive 10.1 TOR1A THAP1
11 myopathy, lactic acidosis, and sideroblastic anemia 3 10.1 SERPINF2 MT-ATP6
12 cortical deafness 10.1 PRNP KCNT1
13 gluten allergy 10.1 TOR1A TGM2
14 jejunoileitis 10.1 TOR1A TGM2
15 spasmodic dysphonia 10.1 TUBB4A TOR1A THAP1
16 lymphocytic gastritis 10.1 TOR1A TGM2
17 tropical sprue 10.1 TOR1A TGM2
18 dystonia 24 10.0 THAP1 HPCA GNAL ANO3
19 myopathy, lactic acidosis, and sideroblastic anemia 1 10.0 SERPINF2 MT-ATP6
20 alternating hemiplegia of childhood 10.0 THAP1 GNAL CIZ1 ANO3
21 immunoglobulin a deficiency 1 10.0 TOR1A TGM2
22 wheat allergy 10.0 TOR1A TGM2
23 duodenitis 10.0 TOR1A TGM2
24 lymphocytic colitis 10.0 TOR1A TGM2
25 giardiasis 10.0 TOR1A TGM2
26 hemidystonia 10.0 TOR1A THAP1 GNAL ANO3
27 focal hand dystonia 9.9 TOR1A THAP1 GNAL ANO3
28 dystonia 11, myoclonic 9.9 TOR1A THAP1 GNAL ANO3
29 aspirin allergy 9.9 TPO TGM2
30 dystonia 27 9.9 HPCA GNAL COL6A3 CIZ1 ANO3
31 microscopic colitis 9.9 TOR1A TGM2
32 torsion dystonia 4 9.9 TUBB4A HPCA GNAL CIZ1 ANO3
33 adrenal cortical hypofunction 9.8 TPO TOR1A
34 lactose intolerance 9.8 TOR1A TGM2
35 focal dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
36 blepharospasm 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
37 cervical dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
38 benign familial infantile epilepsy 9.8 THAP1 KCNT1 GNAL CIZ1 ANO3
39 immunoglobulin alpha deficiency 9.7 TOR1A TGM2
40 autoimmune disease of gastrointestinal tract 9.6 TPO TOR1A TGM2
41 multifocal dystonia 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
42 dystonia 1, torsion, autosomal dominant 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
43 dystonia 12 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
44 neurodegeneration with brain iron accumulation 9.6 TOR1A THAP1 CP
45 spasmodic dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
46 segmental dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
47 isolated dystonia 9.4 TUBB4A TOR1A THAP1 HPCA GNAL COL6A3
48 movement disease 9.2 TOR1A THAP1 GNAL CP CIZ1 ANO3
49 oromandibular dystonia 9.1 TUBB4A TOR1A THAP1 CP CIZ1 ANO3
50 celiac disease 1 9.1 TPO TOR1A TGM2

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

MGI Mouse Phenotypes related to Torsion Dystonia 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 CIZ1 COL6A3 CP GNAL KCNT1 PRNP

Drugs & Therapeutics for Torsion Dystonia 2

Search Clinical Trials , NIH Clinical Center for Torsion Dystonia 2

Genetic Tests for Torsion Dystonia 2

Genetic tests related to Torsion Dystonia 2:

# Genetic test Affiliating Genes
1 Torsion Dystonia 2 29 HPCA

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

ClinVar genetic disease variations for Torsion Dystonia 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPCA NM_002143.3(HPCA):c.225C>A (p.Asn75Lys)SNV Pathogenic 190118 rs786205675 1:33354724-33354724 1:32889123-32889123
2 HPCA NM_002143.3(HPCA):c.212C>A (p.Thr71Asn)SNV Pathogenic 190119 rs775863165 1:33354711-33354711 1:32889110-32889110
3 HPCA NM_002143.3(HPCA):c.568G>A (p.Ala190Thr)SNV Pathogenic 190120 rs550921485 1:33359449-33359449 1:32893848-32893848

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

Molecular functions related to Torsion Dystonia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 TOR1A THAP1 TGM2 PRNP HPCA C1QTNF3

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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