MCID: TRS005
MIFTS: 12

Torsion Dystonia with Onset in Infancy

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

Aliases & Classifications for Torsion Dystonia with Onset in Infancy

MalaCards integrated aliases for Torsion Dystonia with Onset in Infancy:

Name: Torsion Dystonia with Onset in Infancy 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
severe involvement of legs
mild involvement of face and arms


HPO:

31
torsion dystonia with onset in infancy:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0090058
OMIM 56 602554
ICD10 32 G24.1
MedGen 41 C1865205
SNOMED-CT via HPO 68 22451001 263681008 431034009

Summaries for Torsion Dystonia with Onset in Infancy

Disease Ontology : 12 A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.

MalaCards based summary : Torsion Dystonia with Onset in Infancy is related to dystonia and hereditary dystonia. Related phenotype is torsion dystonia.

More information from OMIM: 602554

Related Diseases for Torsion Dystonia with Onset in Infancy

Symptoms & Phenotypes for Torsion Dystonia with Onset in Infancy

Human phenotypes related to Torsion Dystonia with Onset in Infancy:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 torsion dystonia 31 HP:0001304

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
torsion dystonia

Clinical features from OMIM:

602554

Drugs & Therapeutics for Torsion Dystonia with Onset in Infancy

Search Clinical Trials , NIH Clinical Center for Torsion Dystonia with Onset in Infancy

Genetic Tests for Torsion Dystonia with Onset in Infancy

Anatomical Context for Torsion Dystonia with Onset in Infancy

Publications for Torsion Dystonia with Onset in Infancy

Articles related to Torsion Dystonia with Onset in Infancy:

(showing 1, show less)
# Title Authors PMID Year
1
Autosomal dominant torsion dystonia with onset in infancy. 61 56
8916165 1996

Variations for Torsion Dystonia with Onset in Infancy

Expression for Torsion Dystonia with Onset in Infancy

Search GEO for disease gene expression data for Torsion Dystonia with Onset in Infancy.

Pathways for Torsion Dystonia with Onset in Infancy

GO Terms for Torsion Dystonia with Onset in Infancy

Sources for Torsion Dystonia with Onset in Infancy

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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