MCID: HRD198
MIFTS: 29

Hereditary Dystonia

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hereditary Dystonia

MalaCards integrated aliases for Hereditary Dystonia:

Name: Hereditary Dystonia 25
Dystonia Hereditary 54
Familial Dystonia 70

Classifications:



External Ids:

UMLS 70 C0752207

Summaries for Hereditary Dystonia

MalaCards based summary : Hereditary Dystonia, also known as dystonia hereditary, is related to dystonia 1, torsion, autosomal dominant and dystonia, dopa-responsive. An important gene associated with Hereditary Dystonia is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Neuroscience and Monoamine Transport. Affiliated tissues include cerebellum, skeletal muscle and globus pallidus, and related phenotypes are behavior/neurological and cardiovascular system

GeneReviews: NBK1155

Related Diseases for Hereditary Dystonia

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia Rare Dystonia

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 30.2 THAP1 ANO3
2 dystonia, dopa-responsive 29.9 THAP1 TH GCH1
3 tetrahydrobiopterin deficiency 29.9 TH GCH1
4 dystonia 11, myoclonic 29.5 THAP1 GCH1 ANO3
5 cervical dystonia 29.3 THAP1 TH GCH1 ANO3
6 segmental dystonia 29.3 TUBB4A THAP1 GCH1 ANO3
7 dystonia 29.1 TUBB4A THAP1 TH GCH1 DBH ATP13A2
8 movement disease 28.9 THAP1 TH GCH1 ATP13A2 ANO3
9 hyperphenylalaninemia, bh4-deficient, b 10.2 TH GCH1
10 hyperphenylalaninemia 10.2 TH GCH1
11 segawa syndrome, autosomal recessive 10.2 TH GCH1
12 spasmodic dysphonia 10.2 TUBB4A THAP1
13 dystonia 3, torsion, x-linked 10.1 THAP1 GCH1
14 pure autonomic failure 10.1 TH DBH
15 aromatic l-amino acid decarboxylase deficiency 10.1 TH GCH1
16 dopamine beta-hydroxylase deficiency 10.1 TH DBH
17 autonomic nervous system disease 10.1 TH DBH
18 dystonia 24 10.0 THAP1 ANO3
19 focal hand dystonia 10.0 THAP1 ANO3
20 basal ganglia disease 10.0 THAP1 ADAR
21 early-onset parkinson's disease 9.9 TH GCH1 ATP13A2
22 parkinsonism 9.9
23 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 9.9
24 hemidystonia 9.9 THAP1 GCH1 ANO3
25 multifocal dystonia 9.9 THAP1 GCH1 ANO3
26 blepharospasm 9.9 THAP1 GCH1 ANO3
27 torsion dystonia 2 9.9 TUBB4A THAP1 ANO3
28 torsion dystonia 4 9.9 TUBB4A THAP1 ANO3
29 dystonia 25 9.9 TUBB4A THAP1 ANO3
30 dystonia 4, torsion, autosomal dominant 9.8
31 dystonia with ringbinden 9.8
32 leukodystrophy, hypomyelinating, 6 9.8
33 sgce myoclonus-dystonia 9.8
34 tubb4a-related leukodystrophy 9.8
35 spastic paraparesis 9.8
36 myoclonus 9.8
37 spasticity 9.8
38 paroxysmal dystonia 9.8
39 combined dystonia 9.8
40 isolated dystonia 9.8 TUBB4A THAP1 GCH1 ANO3
41 spasmodic dystonia 9.7 TUBB4A THAP1 GCH1 ANO3
42 sphingolipidosis 9.7 ATP13A2 ARSA
43 focal dystonia 9.7 TUBB4A THAP1 GCH1 ANO3
44 benign familial infantile epilepsy 9.7 THAP1 ANO3
45 ceroid lipofuscinosis, neuronal, 3 9.7 ATP13A2 ARSA
46 parkinson disease, late-onset 9.6 TH GCH1 DBH ATP13A2
47 oromandibular dystonia 9.5 TUBB4A THAP1 GCH1 ATP13A2 ANO3
48 choreatic disease 9.3 THAP1 TH GCH1 ATP13A2 ATN1
49 dementia 9.3 TH ATP13A2 ATN1 ARSA
50 dystonia 12 9.0 TUBB4A THAP1 GCH1 ATP13A2 ATN1 ANO3

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



Diseases related to Hereditary Dystonia

Symptoms & Phenotypes for Hereditary Dystonia

MGI Mouse Phenotypes related to Hereditary Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ARSA ATN1 ATP13A2 DBH GCH1 TH
2 cardiovascular system MP:0005385 9.56 ADAR ANO3 ATN1 ATP13A2 DBH GCH1
3 nervous system MP:0003631 9.28 ADAR ARSA ATN1 ATP13A2 DBH GCH1

Drugs & Therapeutics for Hereditary Dystonia

Search Clinical Trials , NIH Clinical Center for Hereditary Dystonia

Genetic Tests for Hereditary Dystonia

Anatomical Context for Hereditary Dystonia

MalaCards organs/tissues related to Hereditary Dystonia:

40
Cerebellum, Skeletal Muscle, Globus Pallidus, Hypothalamus

Publications for Hereditary Dystonia

Articles related to Hereditary Dystonia:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. 25
27666935 2017
2
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 25
27992417 2017
3
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. 25
28039521 2017
4
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 25
27839873 2016
5
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. 25
27090768 2016
6
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 25
26990861 2016
7
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 25
27079681 2016
8
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 25
26598494 2015
9
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). 25
25604858 2015
10
Distinct neurological disorders with ATP1A3 mutations. 25
24739246 2014
11
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 25
23687123 2013
12
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 25
23449625 2013
13
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism. 25
23435702 2013
14
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. 25
23332219 2013
15
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. 25
23343561 2013
16
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. 25
23184149 2013
17
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. 25
23269594 2013
18
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 25
23269600 2013
19
Mutations in GNAL cause primary torsion dystonia. 25
23222958 2013
20
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. 25
23200863 2012
21
Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. 25
22986512 2012
22
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. 25
22736418 2012
23
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. 25
22456975 2012
24
Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. 25
22782515 2012
25
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. 25
22454269 2012
26
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 25
22101681 2011
27
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 25
21520283 2011
28
Paroxysmal dyskinesias. 25
21626559 2011
29
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag"). 25
21047175 2011
30
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 25
20853438 2010
31
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 25
19458970 2009
32
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 25
19433437 2009
33
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 25
19182804 2009
34
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 25
19124534 2009
35
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 25
18570303 2009
36
Psychogenic movement disorders in children: a report of 15 cases and a review of the literature. 25
18759366 2008
37
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. 25
18685131 2008
38
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. 25
18512755 2008
39
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 25
18243799 2008
40
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. 25
17805246 2007
41
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 25
17503336 2007
42
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. 25
17282997 2007
43
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. 25
17303531 2007
44
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. 25
15496428 2004
45
Risk of developing a mitochondrial DNA deletion disorder. 25
15313359 2004
46
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. 25
12444570 2002
47
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 25
11528394 2001
48
Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia. 25
10990510 2000
49
74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands. 25
10899455 2000
50
The DYT1 phenotype and guidelines for diagnostic testing. 25
10802779 2000

Variations for Hereditary Dystonia

Expression for Hereditary Dystonia

Search GEO for disease gene expression data for Hereditary Dystonia.

Pathways for Hereditary Dystonia

Pathways related to Hereditary Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.08 TH DBH ATP13A2
2
Show member pathways
10.96 TH DBH
3
Show member pathways
10.86 TH DBH
4
Show member pathways
10.62 TH GCH1
5
Show member pathways
10.32 TH DBH
6
Show member pathways
9.97 TH DBH

GO Terms for Hereditary Dystonia

Cellular components related to Hereditary Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.92 TH GCH1 DBH ATP13A2

Biological processes related to Hereditary Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to amphetamine GO:0001975 9.37 TH DBH
2 response to pain GO:0048265 9.32 GCH1 DBH
3 dopamine biosynthetic process GO:0042416 9.26 TH GCH1
4 cellular response to manganese ion GO:0071287 9.16 TH ATP13A2
5 catecholamine biosynthetic process GO:0042423 8.96 TH DBH
6 norepinephrine biosynthetic process GO:0042421 8.62 TH DBH

Molecular functions related to Hereditary Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 THAP1 TH GCH1 DBH ATP13A2 ARSA

Sources for Hereditary 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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