MCID: FML034
MIFTS: 32

Familial Dystonia malady

Genetic diseases category

Summaries for Familial Dystonia

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MalaCards: Familial Dystonia, also known as familiar dystonia, is related to dystonia musculorum deformans and idiopathic 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. Affiliated tissues include brain.

Aliases & Classifications for Familial Dystonia

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8Disease Ontology, 10DISEASES, 60UMLS, 34MeSH, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

familial dystonia 8 10 60
familiar dystonia 8


External Ids:

Disease Ontology8 DOID:5159
NCIt39 C35527

Related Diseases for Familial Dystonia

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17GeneCards, 18GeneDecks
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Diseases in the Dystonia 6 family:

familial dystonia Dystonia 8
Dystonia 1 Dystonia 10
Dystonia 12 Dystonia 13
Dystonia 16 Dystonia 17
Dystonia 18 Dystonia 19
Juvenile-Onset Dystonia Dystonia 7
Dystonia 4 Dystonia 9
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25

Diseases related to Familial Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1dystonia musculorum deformans30.1AK1
2idiopathic familial dystonia10.2
3idiopathic non-familial dystonia10.2
4torsion dystonia10.0TOR1A
5focal dystonia10.0TOR1A
6rapid-onset dystonia-parkinsonism10.0ATP1A3
7blepharospasm10.0TOR1A
8melas syndrome10.0MT-ND6
9eyelid disease10.0THAP1, TOR1A
10leber hereditary optic neuropathy with dystonia10.0MT-ND4, MT-ND6
11optic nerve disease10.0MT-ND6, MT-ND4
12mitochondrial dna-associated leigh syndrome and narp10.0MT-ND4, MT-ND6
13myoclonus-dystonia10.0SGCE
14leigh disease10.0MT-ND6, MT-ND4
15obsessive-compulsive disorder10.0SGCE
16leber hereditary optic neuropathy10.0MT-ND4, MT-ND6
17movement disease10.0ATP1A3, SGCE, TOR1A
18dystonia 129.9
19dystonia 169.9
20dystonia 3, torsion, x-linked9.9
21dystonia 4, torsion, autosomal dominant type9.9
22dystonia 69.9
23dopa-responsive dystonia due to sepiapterin reductase deficiency9.9
24dystonia-11, myoclonic9.9
25dystonia-1, torsion9.9
26segawa syndrome, recessive9.9
27dystonia, dopa-responsive, with or without hyperphenylalaninemia9.9
28dystonia 259.9
29parkinson disease 149.9
30primary dystonia, dyt17 type9.9
31primary dystonia, dyt21 type9.9
32autosomal dominant focal dystonia, dyt7 type9.9
33primary dystonia, dyt2 type9.9
34primary dystonia, dyt13 type9.9

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



Diseases related to familial dystonia

Clinical Features for Familial Dystonia

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Drugs & Therapeutics for Familial Dystonia

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5CenterWatch, 41NIH 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

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Anatomical Context for Familial Dystonia

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32MalaCards
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MalaCards organs/tissues related to Familial Dystonia:

32
Brain

Animal Models for Familial Dystonia or affiliated genes

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Publications for Familial Dystonia

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50PubMed
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Articles related to Familial Dystonia:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. (24202787)
2014
2
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
2013
3
Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia. (22775298)
2013
4
Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. (23523105)
2013
5
Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. (22821615)
2012
6
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. (22534615)
2012
7
A new mutation of GCH1 in triplets family with dopa-responsive dystonia. (21834904)
2011
8
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. (21412843)
2011
9
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
2011
10
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. (21674621)
2011
11
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome. (21267590)
2011
12
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. (20925076)
2010
13
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (18571946)
2009
14
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. (18175354)
2008
15
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. (18823049)
2008
16
Clinical and genetic characterization of a large Dutch family with primary focal dystonia. (18823044)
2008
17
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family. (18752196)
2008
18
DYT16: a new twist to familial dystonia. (18243800)
2008
19
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (17702041)
2007
20
Onset and progression of primary torsion dystonia in sporadic and familial cases. (16987160)
2006
21
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. (16817193)
2006
22
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. (16874761)
2006
23
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17130408)
2006
24
Familial dopa-responsive cervical dystonia. (16505323)
2006
25
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. (17101905)
2006
26
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
27
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. (15726411)
2005
28
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. (15897512)
2005
29
Genetic heterogeneity in ten families with myoclonus-dystonia. (15258227)
2004
30
Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy. (14978686)
2004
31
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)
2003
32
Familial focal dystonia. (12422077)
2002
33
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. (12473771)
2002
34
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? (12023430)
2002
35
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. (12481989)
2002
36
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. (11487218)
2001
37
Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene. (10851395)
2000
38
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. (11022010)
2000
39
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. (9399227)
1997
40
Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis. (8734018)
1996
41
Dopa-responsive dystonia: clinical and family study in Taiwanese. (8681479)
1996
42
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. (8644732)
1996
43
Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. (7629534)
1995
44
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. (8004804)
1994
45
Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. (1449240)
1992
46
Autosomal dominant torsion dystonia in a Swedish family. (3400518)
1988
47
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
1974
48
'Pugnatron'-like reaction in a patient with familial dystonia: torque induced motion analysis. (4836750)
1974
49
Familial dystonia musculorum deformans and tremor. (5037440)
1972
50
Dystonia musculorum deformans with another case in the same family. (20344681)
1947

Genetic Variations for Familial Dystonia

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Expression for genes affiliated with Familial Dystonia

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

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Pathways for genes affiliated with Familial Dystonia

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Compounds for genes affiliated with Familial Dystonia

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44Novoseek
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Compounds related to Familial Dystonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoleucine449.9MT-ND4, MT-ND6
2pyruvate448.9PNKD, MT-ND4, AK1

GO Terms for genes affiliated with Familial Dystonia

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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

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Sources for Familial Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet