DYT2
MCID: DYS063
MIFTS: 28

Dystonia 2, Torsion, Autosomal Recessive (DYT2)

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

Aliases & Classifications for Dystonia 2, Torsion, Autosomal Recessive

MalaCards integrated aliases for Dystonia 2, Torsion, Autosomal Recessive:

Name: Dystonia 2, Torsion, Autosomal Recessive 57 20 72 6 70
Dyt2 57 20 58 72
Dystonia Musculorum Deformans 2 57 72
Torsion Dystonia 2 20 72
Dystonia, Type 2, Torsion, Autosomal Recessive 39
Torsion Dystonia 2, Autosomal Recessive Type 20
Dystonia Musculorum Deformans Type 2 20
Primary Dystonia, Dyt2 Type 58

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt2 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in childhood or adolescence
begins in hands or feet, later generalized
two unrelated families have been reported to have hpca mutations


HPO:

31
dystonia 2, torsion, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 224500
OMIM Phenotypic Series 57 PS128100
MeSH 44 D004422
ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA99657
MedGen 41 C1857093
UMLS 70 C1857093

Summaries for Dystonia 2, Torsion, Autosomal Recessive

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99657 Definition Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. Epidemiology The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families. Clinical description The onset of the symptoms is early in childhood or adolescence. Progression to generalized dystonia is possible. Genetic counseling The DYT2 locus is unknown. Autosomal recessive transmission is suggested.

MalaCards based summary : Dystonia 2, Torsion, Autosomal Recessive, also known as dyt2, is related to torsion dystonia 2 and dystonia, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 2, Torsion, Autosomal Recessive is HPCA (Hippocalcin). Affiliated tissues include breast, and related phenotypes are torsion dystonia and dysarthria

OMIM® : 57 Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003). (224500) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Dystonia 2, torsion, autosomal recessive: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.

Related Diseases for Dystonia 2, Torsion, Autosomal Recessive

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 Dystonia 2, Torsion, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 torsion dystonia 2 11.4
2 dystonia 10.4
3 isolated dystonia 10.2
4 metachromatic leukodystrophy 9.9
5 tremor 9.9

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



Diseases related to Dystonia 2, Torsion, Autosomal Recessive

Symptoms & Phenotypes for Dystonia 2, Torsion, Autosomal Recessive

Human phenotypes related to Dystonia 2, Torsion, Autosomal Recessive:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torsion dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001304
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
4 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
5 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
6 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
7 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 generalized dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007325
10 dysphagia 31 HP:0002015
11 involuntary movements 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
tremor
torsion dystonia, cervical, limb, trunk
craniocervical involvement

Head And Neck Eyes:
blepharospasm

Head And Neck Face:
orofacial involvement

Abdomen Gastrointestinal:
dysphagia

Head And Neck Neck:
torticollis

Clinical features from OMIM®:

224500 (Updated 20-May-2021)

UMLS symptoms related to Dystonia 2, Torsion, Autosomal Recessive:


tremor; torticollis

Drugs & Therapeutics for Dystonia 2, Torsion, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Dystonia 2, Torsion, Autosomal Recessive

Genetic Tests for Dystonia 2, Torsion, Autosomal Recessive

Anatomical Context for Dystonia 2, Torsion, Autosomal Recessive

MalaCards organs/tissues related to Dystonia 2, Torsion, Autosomal Recessive:

40
Breast

Publications for Dystonia 2, Torsion, Autosomal Recessive

Articles related to Dystonia 2, Torsion, Autosomal Recessive:

(show all 34)
# Title Authors PMID Year
1
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 61 6 57
25799108 2015
2
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 61 57 6
14694054 2003
3
An unusual form of metachromatic leukodystrophy in three siblings. 57 6
6115727 1981
4
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. 57 61
15477576 2004
5
The genetics of primary dystonias and related disorders. 57
11912106 2002
6
The genetics of idiopathic torsion dystonia. 57
2203908 1990
7
The genetics of primary torsion dystonia. 57
2404852 1990
8
Hereditary torsion dystonia in gypsies. 57
3400517 1988
9
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. 57
6470761 1984
10
Inheritance of idiopathic torsion dystonia among Jews. 57
6694180 1984
11
Inheritance of torsion dystonia in Jews. 57
7283406 1981
12
Torsion dystonia in Israel. 57
7436383 1980
13
Dystonia in Spain: study of a Gypsy family and general survey. 57
941766 1976
14
The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography. 57
782203 1976
15
The torsion dystonias: literature review and genetic and clinical studies. 57
5529476 1970
16
Superior intelligence in recessively inherited torsion dystonia. 57
4188627 1970
17
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition. 61
33511595 2021
18
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia. 61
31301343 2019
19
Naming Genes for Dystonia: DYT-z or Ditzy? 61
31523486 2019
20
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. 61
30145809 2018
21
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 61
28398555 2017
22
DYT2 screening in early-onset isolated dystonia. 61
27771228 2017
23
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing. 61
26991507 2016
24
DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia. 61
26094611 2015
25
Preclinical Development of an anti-5T4 Antibody-Drug Conjugate: Pharmacokinetics in Mice, Rats, and NHP and Tumor/Tissue Distribution in Mice. 61
26180901 2015
26
Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family. 61
26095160 2015
27
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
28
[Genetics of dystonia]. 61
19685389 2009
29
Effective treatment of established human breast tumor xenografts in immunodeficient mice with a single dose of the alpha-emitting radioisotope astatine-211 conjugated to anti-HER2/neu diabodies. 61
18245551 2008
30
Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. 61
15390074 2005
31
A single treatment of yttrium-90-labeled CHX-A"-C6.5 diabody inhibits the growth of established human tumor xenografts in immunodeficient mice. 61
15342405 2004
32
Modifications in synthesis strategy improve the yield and efficacy of geldanamycin-herceptin immunoconjugates. 61
12121134 2002
33
[Genetics of dystonia]. 61
10919137 2000
34
Genetics of primary dystonia. 61
12194383 1999

Variations for Dystonia 2, Torsion, Autosomal Recessive

ClinVar genetic disease variations for Dystonia 2, Torsion, Autosomal Recessive:

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

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 2, Torsion, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 HPCA p.Thr71Asn VAR_073803 rs775863165
2 HPCA p.Asn75Lys VAR_073804 rs786205675
3 HPCA p.Ala190Thr VAR_073805 rs550921485

Expression for Dystonia 2, Torsion, Autosomal Recessive

Search GEO for disease gene expression data for Dystonia 2, Torsion, Autosomal Recessive.

Pathways for Dystonia 2, Torsion, Autosomal Recessive

GO Terms for Dystonia 2, Torsion, Autosomal Recessive

Sources for Dystonia 2, Torsion, Autosomal Recessive

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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