MCID: HRD198
MIFTS: 29

Hereditary Dystonia

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

Aliases & Classifications for Hereditary Dystonia

MalaCards integrated aliases for Hereditary Dystonia:

Name: Hereditary Dystonia 24
Dystonia Hereditary 55
Familial Dystonia 73

Classifications:



Summaries for Hereditary Dystonia

MalaCards based summary : Hereditary Dystonia, also known as dystonia hereditary, is related to dystonia and dystonia 4, torsion, autosomal dominant. An important gene associated with Hereditary Dystonia is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Amino Acid metabolism and Tyrosine metabolism. Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

GeneReviews: NBK1155

Related Diseases for Hereditary Dystonia

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



Diseases related to Hereditary Dystonia

Symptoms & Phenotypes for Hereditary Dystonia

GenomeRNAi Phenotypes related to Hereditary Dystonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.32 DBH TUBB4A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.32 DBH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.32 DBH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.32 TUBB4A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.32 TUBB4A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.32 TUBB4A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.32 DBH
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.32 TUBB4A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 TUBB4A

Drugs & Therapeutics for Hereditary Dystonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Hereditary Dystonia

Genetic Tests for Hereditary Dystonia

Anatomical Context for Hereditary Dystonia

MalaCards organs/tissues related to Hereditary Dystonia:

41
Skeletal Muscle, Cerebellum

Publications for Hereditary Dystonia

Articles related to Hereditary Dystonia:

(show all 12)
# Title Authors Year
1
A role for cerebellum in the hereditary dystonia DYT1. ( 28198698 )
2017
2
Hereditary dystonia and parkinsonism: two sides of the same coin? ( 25125585 )
2014
3
Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. ( 23424103 )
2013
4
New algorithm for the diagnosis of hereditary dystonia. ( 22990730 )
2012
5
Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging. ( 20965251 )
2011
6
Functional imaging in hereditary dystonia. ( 20590810 )
2010
7
Abnormal structure-function relationships in hereditary dystonia. ( 19162138 )
2009
8
[Molecular biology of hereditary dystonia]. ( 9545771 )
1998
9
Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene. ( 9205791 )
1997
10
Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. ( 1677923 )
1991
11
Hereditary dystonia-parkinsonism syndrome of juvenile onset. ( 3762960 )
1986
12
Hereditary dystonia associated with unique features in skeletal muscle. ( 5115555 )
1971

Variations for Hereditary Dystonia

Expression for Hereditary Dystonia

Search GEO for disease gene expression data for Hereditary Dystonia.

Pathways for Hereditary Dystonia

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 8.8 DBH GCH1 TH

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

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.46 GCH1 TH
2 locomotory behavior GO:0007626 9.43 DBH TH
3 memory GO:0007613 9.4 DBH TH
4 response to amphetamine GO:0001975 9.37 DBH TH
5 response to pain GO:0048265 9.32 DBH GCH1
6 positive regulation of nitric-oxide synthase activity GO:0051000 9.26 FCER2 GCH1
7 dopamine biosynthetic process GO:0042416 9.16 GCH1 TH
8 catecholamine biosynthetic process GO:0042423 8.96 DBH TH
9 norepinephrine biosynthetic process GO:0042421 8.62 DBH TH

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.62 DBH TH

Sources for Hereditary Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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