MCID: DYS063
MIFTS: 23

Dystonia 2, Torsion, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle 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 53 75 29 6 73
Dyt2 57 53 59 75
Dystonia Musculorum Deformans 2 57 75
Torsion Dystonia 2 53 75
Dystonia, Type 2, Torsion, Autosomal Recessive 40
Torsion Dystonia 2, Autosomal Recessive Type 53
Dystonia Musculorum Deformans Type 2 53
Primary Dystonia, Dyt2 Type 59

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt2 type
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
dystonia 2, torsion, autosomal recessive:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 224500
Orphanet 59 ORPHA99657
ICD10 via Orphanet 34 G24.1
MedGen 42 C1857093
MeSH 44 D004422
UMLS 73 C1857093

Summaries for Dystonia 2, Torsion, Autosomal Recessive

NIH Rare Diseases : 53 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 torsion dystonia 2 and dystonia, and has symptoms including torticollis and tremor. An important gene associated with Dystonia 2, Torsion, Autosomal Recessive is HPCA (Hippocalcin). Related phenotypes are torticollis and blepharospasm

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)

UniProtKB/Swiss-Prot : 75 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 torsion dystonia 2 11.2
2 dystonia 10.0

Symptoms & Phenotypes for Dystonia 2, Torsion, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 blepharospasm 32 HP:0000643
3 dysarthria 32 HP:0001260
4 torsion dystonia 32 HP:0001304
5 tremor 32 HP:0001337
6 dysphagia 32 HP:0002015

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


torticollis, tremor

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 29 HPCA

Anatomical Context for Dystonia 2, Torsion, Autosomal Recessive

Publications for Dystonia 2, Torsion, Autosomal Recessive

Variations for Dystonia 2, Torsion, Autosomal Recessive

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

75
# 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_002143.2(HPCA): c.212C> A (p.Thr71Asn) single nucleotide variant Pathogenic rs775863165 GRCh38 Chromosome 1, 32889110: 32889110
4 HPCA NM_002143.2(HPCA): c.212C> A (p.Thr71Asn) single nucleotide variant Pathogenic rs775863165 GRCh37 Chromosome 1, 33354711: 33354711
5 HPCA NM_002143.2(HPCA): c.568G> A (p.Ala190Thr) single nucleotide variant Pathogenic rs550921485 GRCh38 Chromosome 1, 32893848: 32893848
6 HPCA NM_002143.2(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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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