DYT2
MCID: DYS063
MIFTS: 28

Dystonia 2, Torsion, Autosomal Recessive (DYT2)

Categories: Genetic 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 58 54 76 30 6 74
Dyt2 58 54 60 76
Dystonia Musculorum Deformans 2 58 76
Torsion Dystonia 2 54 76
Dystonia, Type 2, Torsion, Autosomal Recessive 41
Torsion Dystonia 2, Autosomal Recessive Type 54
Dystonia Musculorum Deformans Type 2 54
Primary Dystonia, Dyt2 Type 60

Characteristics:

Orphanet epidemiological data:

60
primary dystonia, dyt2 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
dystonia 2, torsion, autosomal recessive:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Dystonia 2, Torsion, Autosomal Recessive

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99657Disease definitionPrimary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.EpidemiologyThe exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families.Clinical descriptionThe onset of the symptoms is early in childhood or adolescence. Progression to generalized dystonia is possible.Genetic counselingThe DYT2 locus is unknown. Autosomal recessive transmission is suggested.Visit the Orphanet disease page for more resources.

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

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 Dystonia 7, Torsion family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Torsion Dystonia with Onset in Infancy
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 dystonia 31.7 DYT2 HPCA
2 torsion dystonia 2 11.4
3 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Dystonia 2, Torsion, Autosomal Recessive

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

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torsion dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001304
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
4 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
5 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
6 blepharospasm 60 33 frequent (33%) Frequent (79-30%) HP:0000643
7 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
8 limb dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0002451
9 generalized dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007325
10 dysphagia 33 HP:0002015
11 involuntary movements 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

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

Genetic tests related to Dystonia 2, Torsion, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Dystonia 2, Torsion, Autosomal Recessive 30 HPCA

Anatomical Context for Dystonia 2, Torsion, Autosomal Recessive

Publications for Dystonia 2, Torsion, Autosomal Recessive

Articles related to Dystonia 2, Torsion, Autosomal Recessive:

# Title Authors Year
1
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. ( 30145809 )
2018
2
DYT2 screening in early-onset isolated dystonia. ( 27771228 )
2017
3
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. ( 25799108 )
2015
4
Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family. ( 26095160 )
2015
5
DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia. ( 26094611 )
2015
6
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. ( 15477576 )
2004
7
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. ( 14694054 )
2003
8
An unusual form of metachromatic leukodystrophy in three siblings. ( 6115727 )
1981

Variations for Dystonia 2, Torsion, Autosomal Recessive

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HPCA NM_002143.2(HPCA): c.225C> A (p.Asn75Lys) single nucleotide variant Pathogenic rs786205675 GRCh37 Chromosome 1, 33354724: 33354724
2 HPCA NM_002143.2(HPCA): c.225C> A (p.Asn75Lys) single nucleotide variant Pathogenic rs786205675 GRCh38 Chromosome 1, 32889123: 32889123
3 HPCA NM_002143.3(HPCA): c.212C> A (p.Thr71Asn) single nucleotide variant Pathogenic rs775863165 GRCh38 Chromosome 1, 32889110: 32889110
4 HPCA NM_002143.3(HPCA): c.212C> A (p.Thr71Asn) single nucleotide variant Pathogenic rs775863165 GRCh37 Chromosome 1, 33354711: 33354711
5 HPCA NM_002143.3(HPCA): c.568G> A (p.Ala190Thr) single nucleotide variant Pathogenic rs550921485 GRCh38 Chromosome 1, 32893848: 32893848
6 HPCA NM_002143.3(HPCA): c.568G> A (p.Ala190Thr) single nucleotide variant Pathogenic rs550921485 GRCh37 Chromosome 1, 33359449: 33359449

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

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10 dbSNP
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17 EFO
18 ExPASy
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29 GO
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31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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