MCID: CMB094
MIFTS: 13

Combined Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Dystonia

MalaCards integrated aliases for Combined Dystonia:

Name: Combined Dystonia 58
Dystonia-Plus Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA98203

Summaries for Combined Dystonia

MalaCards based summary : Combined Dystonia, also known as dystonia-plus syndrome, is related to persistent combined dystonia and dystonia. An important gene associated with Combined Dystonia is NUBPL (Nucleotide Binding Protein Like). Affiliated tissues include globus pallidus.

Related Diseases for Combined Dystonia

Diseases related to Combined Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 persistent combined dystonia 11.1
2 dystonia 10.1
3 cerebral cavernous malformations 9.9
4 chromosome 9p deletion syndrome 9.9
5 brittle bone disorder 9.9
6 microcephaly 9.9
7 learning disability 9.9
8 sgce myoclonus-dystonia 9.9
9 rare genetic movement disorder 9.9
10 chorea, benign hereditary 9.8
11 ataxia and polyneuropathy, adult-onset 9.8
12 chorea, childhood-onset, with psychomotor retardation 9.8
13 alternating hemiplegia of childhood 9.8
14 cervical dystonia 9.8
15 parkinsonism 9.8
16 hemiplegia 9.8
17 choreatic disease 9.8
18 movement disease 9.8
19 myoclonus 9.8
20 tremor 9.8
21 isolated dystonia 9.8

Graphical network of the top 20 diseases related to Combined Dystonia:



Diseases related to Combined Dystonia

Symptoms & Phenotypes for Combined Dystonia

Drugs & Therapeutics for Combined Dystonia

Search Clinical Trials , NIH Clinical Center for Combined Dystonia

Genetic Tests for Combined Dystonia

Anatomical Context for Combined Dystonia

MalaCards organs/tissues related to Combined Dystonia:

40
Globus Pallidus

Publications for Combined Dystonia

Articles related to Combined Dystonia:

(show all 41)
# Title Authors PMID Year
1
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. 61
33611074 2021
2
The expanding clinical and genetic spectrum of ANO3 dystonia. 61
33388357 2021
3
Genetic Dystonias: Update on Classification and New Genetic Discoveries. 61
33564903 2021
4
Little Brain, Big Expectations. 61
33297358 2020
5
Monogenic variants in dystonia: an exome-wide sequencing study. 61
33098801 2020
6
Combined dystonias: clinical and genetic updates. 61
33099685 2020
7
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism. 61
31922365 2020
8
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. 61
31628766 2020
9
Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments. 61
33613415 2020
10
Pharyngeal Dystonia Misdiagnosed as Cricopharyngeal Dysphagia Successfully Treated by Pharmacotherapy. 61
31918534 2019
11
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. 61
31731261 2019
12
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. 61
30897263 2019
13
Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I). 61
30771723 2019
14
Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report. 61
30746422 2019
15
Dystonia. 61
30237473 2018
16
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease. 61
29653907 2018
17
Pediatric Deep Brain Stimulation Using Awake Recording and Stimulation for Target Selection in an Inpatient Neuromodulation Monitoring Unit. 61
30018276 2018
18
Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations. 61
30363085 2017
19
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. 61
27666935 2017
20
Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia. 61
28323682 2017
21
Diagnosis and Management of Dystonia. 61
27495206 2016
22
The role of mutations in COL6A3 in isolated dystonia. 61
26872670 2016
23
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. 61
26297380 2015
24
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 61
25643588 2015
25
Dystonia: an update on phenomenology, classification, pathogenesis and treatment. 61
24978640 2014
26
Dystonia. 61
24092288 2013
27
Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. 61
23893445 2013
28
A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. 61
22026499 2012
29
Overview of primary monogenic dystonia. 61
22166420 2012
30
[Hereditary dystonia -- phenotype of DYT1]. 61
23196519 2012
31
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. 61
20425829 2010
32
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. 61
18702114 2008
33
Large deletions account for an increasing number of mutations in SGCE. 61
18098280 2008
34
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. 61
18651096 2008
35
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. 61
17898012 2007
36
Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. 61
17216649 2007
37
Autosomal dominant dystonia-plus with cerebral calcifications. 61
16924015 2006
38
DOPA-sensitive dystonia-plus syndrome. 61
15739726 2005
39
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? 61
11835466 2002
40
Dystonia: recent advances. 61
10833562 1999
41
Rapid-onset dystonia-parkinsonism in a second family. 61
9109901 1997

Variations for Combined Dystonia

Expression for Combined Dystonia

Search GEO for disease gene expression data for Combined Dystonia.

Pathways for Combined Dystonia

GO Terms for Combined Dystonia

Sources for Combined Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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