MCID: TRS025
MIFTS: 27

Torsion Dystonia 2

Categories: Genetic diseases, Mental 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 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0090038
ICD10 32 G24.1
UMLS 70 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 are Prion disease and Ferroptosis. 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 57)
# Related Disease Score Top Affiliating Genes
1 dystonia 2, torsion, autosomal recessive 11.6
2 dystonia 23 10.3 CIZ1 ANO3
3 dystonia 6, torsion 10.2 THAP1 CIZ1
4 spastic monoplegia 10.2 TOR1A HPCA
5 cranio-facial dystonia 10.2 TOR1A THAP1
6 torticollis 10.2 TOR1A CIZ1
7 hereditary lymphedema ii 10.2 TOR1A THAP1
8 lymphatic malformation 5 10.2 TOR1A THAP1
9 dystonia, dopa-responsive 10.1 TOR1A THAP1
10 hereditary dystonia 10.1 TUBB4A THAP1 ANO3
11 dystonia 3, torsion, x-linked 10.1 TOR1A THAP1 HPCA
12 gluten allergy 10.1 TOR1A TGM2
13 jejunoileitis 10.1 TOR1A TGM2
14 tropical sprue 10.1 TOR1A TGM2
15 acute gonococcal prostatitis 10.1 TUBB4A TPO
16 whipple disease 10.1 TOR1A TGM2
17 wheat allergy 10.0 TOR1A TGM2
18 immunoglobulin a deficiency 1 10.0 TOR1A TGM2
19 spasmodic dysphonia 10.0 TUBB4A TOR1A THAP1
20 duodenitis 10.0 TOR1A TGM2
21 lymphocytic colitis 10.0 TOR1A TGM2
22 giardiasis 10.0 TOR1A TGM2
23 dystonia 24 10.0 THAP1 HPCA GNAL ANO3
24 lactose intolerance 10.0 TOR1A TGM2
25 alternating hemiplegia of childhood 10.0 THAP1 GNAL CIZ1 ANO3
26 microscopic colitis 10.0 TOR1A TGM2
27 adrenal cortical hypofunction 10.0 TPO TOR1A
28 aspirin allergy 10.0 TPO TGM2
29 immunoglobulin alpha deficiency 9.9 TOR1A TGM2
30 hemidystonia 9.9 TOR1A THAP1 GNAL ANO3
31 focal hand dystonia 9.9 TOR1A THAP1 GNAL ANO3
32 benign familial infantile epilepsy 9.9 THAP1 KCNT1 CIZ1 ANO3
33 dystonia 11, myoclonic 9.9 TOR1A THAP1 GNAL ANO3
34 bullous skin disease 9.9 TOR1A TGM2
35 dystonia 27 9.9 HPCA GNAL COL6A3 CIZ1 ANO3
36 neonatal period electroclinical syndrome 9.9 MT-ATP6 KCNT1
37 neurodegeneration with brain iron accumulation 1 9.8 TOR1A CP
38 blepharospasm 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
39 cervical dystonia 9.8 TOR1A THAP1 GNAL CIZ1 ANO3
40 adrenal cortex disease 9.8 TPO TOR1A
41 neurodegeneration with brain iron accumulation 9.7 TOR1A THAP1 CP
42 aceruloplasminemia 9.7 MT-ATP6 CP CIZ1
43 multifocal dystonia 9.7 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
44 dystonia 1, torsion, autosomal dominant 9.7 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
45 autoimmune disease of endocrine system 9.7 TPO TOR1A
46 choreatic disease 9.6 TOR1A THAP1 GNAL CP
47 celiac disease 1 9.6 TPO TOR1A TGM2
48 focal dystonia 9.6 TUBB4A TOR1A THAP1 GNAL CIZ1 ANO3
49 spasmodic dystonia 9.5 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
50 segmental dystonia 9.5 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 CIZ1 COL6A3 CP GNAL HPCA KCNT1

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
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 6
25799108 2015
2
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 6
14694054 2003
3
An unusual form of metachromatic leukodystrophy in three siblings. 6
6115727 1981
4
[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 Position
1 HPCA NM_002143.3(HPCA):c.212C>A (p.Thr71Asn) SNV Pathogenic 190119 rs775863165 GRCh37: 1:33354711-33354711
GRCh38: 1:32889110-32889110
2 HPCA NM_002143.3(HPCA):c.568G>A (p.Ala190Thr) SNV Pathogenic 190120 rs550921485 GRCh37: 1:33359449-33359449
GRCh38: 1:32893848-32893848
3 HPCA NM_002143.3(HPCA):c.225C>A (p.Asn75Lys) SNV Pathogenic 190118 rs786205675 GRCh37: 1:33354724-33354724
GRCh38: 1:32889123-32889123

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
Show member pathways
11.64 TUBB4A PRNP MT-ATP6 GNAL
2 10.77 PRNP CP
3 10.52 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 9.17 TUBB4A TOR1A TGM2 PRNP GNAL CP

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 8.96 PRNP HPCA
2 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 metal ion binding GO:0046872 9.23 TPO THAP1 TGM2 PRNP HPCA GNAL

Sources for Torsion Dystonia 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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