DRD
MCID: DPR005
MIFTS: 16

Dopa-Responsive Dystonia Multi-Gene Panels (DRD) malady

Neuronal category

Summaries for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.

MalaCards: Dopa-Responsive Dystonia Multi-Gene Panels, also known as dopa-responsive dystonia, is related to dystonia 5, dopa-responsive type and pigmentary retinopathy, and has symptoms including abnormal gait, movement disorder and hypertonia/spasticity/rigidity/stiffness.

Aliases & Classifications for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
49Orphanet, 21Genetics Home Reference, 20GeneTests, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
dopa-responsive dystonia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

dopa-responsive dystonia multi-gene panels 20
dopa-responsive dystonia 21 49
hereditary progressive dystonia with marked diurnal fluctuation 21
hereditary progressive dystonia with diurnal fluctuation 49
dystonia 5, dopa-responsive type 21
segawa syndrome 49
dyt5 49
drd 21


External Ids:

MESH via Orphanet36 C538007
ICD10 via Orphanet26 G24.8
UMLS via Orphanet62 C1851920

Related Diseases for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dopa-Responsive Dystonia Multi-Gene Panels:



Diseases related to dopa-responsive dystonia multi-gene panels

Clinical Features for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
49Orphanet
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Symptoms:

49 (see all 4)
  • abnormal gait
  • movement disorder
  • hypertonia/spasticity/rigidity/stiffness
  • autosomal dominant inheritance

Drugs & Therapeutics for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dopa-Responsive Dystonia Multi-Gene Panels

Drug clinical trials:

Search ClinicalTrials for Dopa-Responsive Dystonia Multi-Gene Panels

Search NIH Clinical Center for Dopa-Responsive Dystonia Multi-Gene Panels

Search CenterWatch for Dopa-Responsive Dystonia Multi-Gene Panels

Genetic Tests for Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
20GeneTests
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Genetic tests related to Dopa-Responsive Dystonia Multi-Gene Panels:

id Genetic test Affiliating Genes
1 Dopa-responsive Dystonia Multi-gene Panels20

Anatomical Context for Dopa-Responsive Dystonia Multi-Gene Panels

Animal Models for Dopa-Responsive Dystonia Multi-Gene Panels or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dopa-Responsive Dystonia Multi-Gene Panels

Genetic Variations for Dopa-Responsive Dystonia Multi-Gene Panels

Expression for genes affiliated with Dopa-Responsive Dystonia Multi-Gene Panels

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Dopa-Responsive Dystonia Multi-Gene Panels.

Pathways for genes affiliated with Dopa-Responsive Dystonia Multi-Gene Panels

Compounds for genes affiliated with Dopa-Responsive Dystonia Multi-Gene Panels

GO Terms for genes affiliated with Dopa-Responsive Dystonia Multi-Gene Panels

Products for genes affiliated with Dopa-Responsive Dystonia Multi-Gene Panels

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dopa-Responsive Dystonia Multi-Gene Panels

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet