MCID: FML034
MIFTS: 25

Familial Dystonia malady

Summaries for Familial Dystonia

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33MalaCards
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MalaCards: Familial Dystonia, also known as familiar dystonia, is related to idiopathic familial dystonia and idiopathic non-familial dystonia. An important gene associated with Familial Dystonia is THAP1 (THAP domain containing, apoptosis associated protein 1). The compounds isoleucine and pyruvate have been mentioned in the context of this disorder.

Aliases & Classifications for Familial Dystonia

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 35MeSH, 40NCIt
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Aliases & Descriptions:

familial dystonia 8 10 61
familiar dystonia 8


External Ids:

Disease Ontology8 DOID:5159
NCIt40 C35527

Related Diseases for Familial Dystonia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Familial Dystonia:



Diseases related to familial dystonia

Clinical Features for Familial Dystonia

Drugs & Therapeutics for Familial Dystonia

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

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Drug clinical trials:

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Genetic Tests for Familial Dystonia

Anatomical Context for Familial Dystonia

Animal Models for Familial Dystonia or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Familial Dystonia

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51PubMed
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Articles related to Familial Dystonia:

(show all 38)
idTitleAuthorsYear
1
No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. (24222099)
2013
2
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (23762320)
2013
3
Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. (23523105)
2013
4
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
2011
5
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. (21674621)
2011
6
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. (21204215)
2011
7
A new familial syndrome with dystonia and lower limb action myoclonus. (21370267)
2011
8
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. (20187889)
2010
9
The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? (19380705)
2009
10
DYT16: a new twist to familial dystonia. (18243800)
2008
11
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17562842)
2007
12
Onset and progression of primary torsion dystonia in sporadic and familial cases. (16987160)
2006
13
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. (16632466)
2006
14
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17130408)
2006
15
Familial dopa-responsive cervical dystonia. (16505323)
2006
16
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. (16411215)
2006
17
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. (15726411)
2005
18
Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy. (14509671)
2004
19
Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. (14598070)
2003
20
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)
2003
21
Familial focal dystonia. (12422077)
2002
22
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. (10208576)
1999
23
Familial cervical dystonia, head tremor, and scoliosis: a case report. (9750908)
1998
24
Spurious familial dystonia. (9596027)
1998
25
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. (9399227)
1997
26
Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system? (9285458)
1997
27
Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis. (8734018)
1996
28
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. (8004804)
1994
29
Familial essential tremor and idiopathic torsion dystonia are different genetic entities. (8232931)
1993
30
Adult onset familial cervical dystonia: report of a family including monozygotic twins. (8232359)
1993
31
A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. (2392218)
1990
32
Blepharospasm and cranial-cervical dystonia (Meige's syndrome): familial occurrence. (3344632)
1988
33
Familial dystonia and visual failure with striatal CT lucencies. (3711913)
1986
34
A familial study in serum dopamine-beta-hydroxylase levels in torsion dystonia. (4858093)
1974
35
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974
36
'Pugnatron'-like reaction in a patient with familial dystonia: torque induced motion analysis. (4836750)
1974
37
Familial dystonia musculorum deformans and tremor. (5037440)
1972
38
L-dopa reversal of muscular spasm, vomiting and insomnia in a patient with an atypical form of familial dystonia. (4313967)
1969

Genetic Variations for Familial Dystonia

Expression for genes affiliated with Familial Dystonia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Dystonia

Search GEO for disease gene expression data for Familial Dystonia.

Pathways for genes affiliated with Familial Dystonia

Compounds for genes affiliated with Familial Dystonia

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45Novoseek
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Compounds related to Familial Dystonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoleucine459.9MT-ND4, MT-ND6
2pyruvate458.9PNKD, MT-ND4, AK1

GO Terms for genes affiliated with Familial Dystonia

Sources:
16Gene Ontology
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Cellular components related to Familial Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor TFIID complexGO:0056699.5TAF1L, TAF1

Biological processes related to Familial Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent transcription, initiationGO:0063529.5TAF1L, TAF1
2histone acetylationGO:0165739.2TAF1L, TAF1

Molecular functions related to Familial Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase activityGO:0044029.5TAF1L, TAF1
2TBP-class protein bindingGO:0170259.4TAF1L, TAF1
3histone acetyl-lysine bindingGO:0705779.2TAF1L, TAF1

Products for genes affiliated with Familial Dystonia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Dystonia

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