GlyCosmos Portal

Submissions

torsion dystonia 1

Summary

Synonym

dystonia musculorum deformans

Definition

A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.

Super Class

autosomal dominant disease generalized dystonia

External Links

Disease Ontology

DOID:0060730

ORDO

256

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
1861	TOR1A	torsin family 1 member A	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
30931	Tor1a	torsin family 1, member A (torsin A)	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
174433	ooc-5	Torsin-like protein	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
O14656	Torsin-1A	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q9ER39	Torsin-1A	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q95NU5	Torsin-like protein	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **11 - 20** of 33 in total

« First

‹ Prev

1

2

3

4

Next ›

Last »
HPO ID	HPO Term
HP:0010628	Facial palsy
HP:0001337	Tremor
HP:0000473	Torticollis
HP:0002015	Dysphagia
HP:0003438	Absent Achilles reflex
HP:0001260	Dysarthria
HP:0003829	Typified by incomplete penetrance
HP:0001290	Generalized hypotonia
HP:0002650	Scoliosis
HP:0000006	Autosomal dominant inheritance