MCID: CRN225
MIFTS: 17

Cranio-Facial Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Cranio-Facial Dystonia

MalaCards integrated aliases for Cranio-Facial Dystonia:

Name: Cranio-Facial Dystonia 12 15
Craniofacial Dystonia 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0050845
UMLS 71 C4023011

Summaries for Cranio-Facial Dystonia

Disease Ontology : 12 A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.

MalaCards based summary : Cranio-Facial Dystonia, also known as craniofacial dystonia, is related to lymphatic malformation 5 and spasmodic dysphonia, and has symptoms including torticollis, oromandibular dystonia and lingual dystonia. An important gene associated with Cranio-Facial Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include brain.

Related Diseases for Cranio-Facial Dystonia

Diseases related to Cranio-Facial Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 5 31.0 TOR1A THAP1 SGCE GCH1
2 spasmodic dysphonia 10.0 TOR1A THAP1
3 torsion dystonia 2 9.9 TOR1A THAP1
4 dystonia 25 9.9 TOR1A THAP1
5 purine-pyrimidine metabolic disorder 9.8 THAP1 GCH1
6 isolated dystonia 9.8 TOR1A THAP1 GCH1
7 basal ganglia disease 9.7 TOR1A THAP1 GCH1
8 complex regional pain syndrome 9.7 TOR1A GCH1
9 neurodegeneration with brain iron accumulation 9.7 TOR1A THAP1 GCH1
10 choreatic disease 9.5 SGCE GCH1
11 leber optic atrophy and dystonia 9.4 THAP1 SGCE GCH1
12 alternating hemiplegia of childhood 9.3 THAP1 SGCE GCH1
13 hereditary lymphedema ii 9.2 TOR1A THAP1 SGCE GCH1
14 hemidystonia 9.2 TOR1A THAP1 SGCE GCH1
15 spasmodic dystonia 9.2 TOR1A THAP1 SGCE GCH1
16 multifocal dystonia 9.2 TOR1A THAP1 SGCE GCH1
17 oromandibular dystonia 9.2 TOR1A THAP1 SGCE GCH1
18 focal hand dystonia 9.2 TOR1A THAP1 SGCE GCH1
19 segmental dystonia 9.2 TOR1A THAP1 SGCE GCH1
20 dystonia 1, torsion, autosomal dominant 9.2 TOR1A THAP1 SGCE GCH1
21 dystonia 3, torsion, x-linked 9.2 TOR1A THAP1 SGCE GCH1
22 dystonia, dopa-responsive 9.2 TOR1A THAP1 SGCE GCH1
23 dystonia 11, myoclonic 9.2 TOR1A THAP1 SGCE GCH1
24 dystonia 12 9.1 TOR1A THAP1 SGCE GCH1
25 movement disease 9.1 TOR1A THAP1 SGCE GCH1
26 obsessive-compulsive disorder 9.0 TOR1A SGCE GCH1 GABBR1
27 blepharospasm 8.8 TOR1A THAP1 SGCE GCH1 CDIP1
28 cervical dystonia 8.8 TOR1A THAP1 SGCE GCH1 CDIP1
29 focal dystonia 8.8 TOR1A THAP1 SGCE GCH1 CDIP1
30 dystonia 8.8 TOR1A THAP1 SGCE GCH1 GABBR1

Graphical network of the top 20 diseases related to Cranio-Facial Dystonia:



Diseases related to Cranio-Facial Dystonia

Symptoms & Phenotypes for Cranio-Facial Dystonia

UMLS symptoms related to Cranio-Facial Dystonia:


torticollis, oromandibular dystonia, lingual dystonia

Drugs & Therapeutics for Cranio-Facial Dystonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615

Search NIH Clinical Center for Cranio-Facial Dystonia

Genetic Tests for Cranio-Facial Dystonia

Anatomical Context for Cranio-Facial Dystonia

MalaCards organs/tissues related to Cranio-Facial Dystonia:

40
Brain

Publications for Cranio-Facial Dystonia

Articles related to Cranio-Facial Dystonia:

# Title Authors PMID Year
1
Comparison of dystonia between Parkinson's disease and atypical parkinsonism: The clinical usefulness of dystonia distribution and characteristics in the differential diagnosis of parkinsonism. 61
29196058 2018
2
Pallidal stimulation for medically intractable blepharospasm. 61
27033410 2016
3
[Dropped head syndrome associated to craniofacial dystonia]. 61
21488012 2011
4
Long-term follow-up of deep brain stimulation for Meige syndrome. 61
20672922 2010
5
Neuromodulation in dystonia: current aspects of deep brain stimulation. 61
22151218 2009
6
Dystonia associated with pontomesencephalic lesions. 61
18951533 2009
7
Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: case report and physiology. 61
15670394 2005
8
Lack of effect of botulinum toxin on cortical excitability in patients with cranial dystonia. 61
15711431 2005
9
Meige syndrome secondary to basal ganglia injury: a potential cause of acute respiratory distress. 61
11383945 2001

Variations for Cranio-Facial Dystonia

Expression for Cranio-Facial Dystonia

Search GEO for disease gene expression data for Cranio-Facial Dystonia.

Pathways for Cranio-Facial Dystonia

GO Terms for Cranio-Facial Dystonia

Sources for Cranio-Facial Dystonia

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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