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
Novel GCH-1 mutations and unusual long-lasting dyskinesias inA Korean families with dopa-responsive dystonia. (24018121)
2013
2
Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. (23089243)
2013
3
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (23762320)
2013
4
No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. (23813719)
2013
5
A new familial syndrome with dystonia and lower limb action myoclonus. (21370267)
2011
6
Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia. (19566901)
2010
7
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. (20187889)
2010
8
The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? (19380705)
2009
9
Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (19506430)
2009
10
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. (17804835)
2008
11
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)
2008
12
Genetic study of an American family with DYT3 dystonia (lubag). (18952144)
2008
13
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (18175340)
2008
14
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. (17853490)
2008
15
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17562842)
2007
16
Can families be screened for cervical dystonia using a telephone interview? (16932515)
2006
17
Leber's hereditary optic neuropathy with dystonia in a Japanese family. (16380132)
2006
18
A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. (15710860)
2005
19
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation. (15390021)
2004
20
Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. (15390049)
2004
21
Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy. (14509671)
2004
22
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. (15477576)
2004
23
Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. (14598070)
2003
24
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)
2003
25
Autosomal recessive, DYT2-like primary torsion dystonia: a new family. (14694054)
2003
26
Obsessive compulsive disorder among idiopathic focal dystonia patients: an epidemiological and family study. (12208643)
2002
27
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. (11921130)
2002
28
A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. (11405816)
2001
29
A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. (11359069)
2001
30
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. (10766892)
2000
31
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. (11009204)
2000
32
Italian family with cranial cervical dystonia: clinical and genetic study. (10495044)
1999
33
The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (10552927)
1999
34
A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia. (10457396)
1999
35
Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature. (10495045)
1999
36
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (10644435)
1999
37
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. (10208576)
1999
38
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. (9750930)
1998
39
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. (9585358)
1998
40
Familial cervical dystonia, head tremor, and scoliosis: a case report. (9750908)
1998
41
Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. (9647318)
1998
42
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia. (9120469)
1997
43
Progressive dystonia with optic atrophy in a Jewish-Iraqi family. (9335011)
1997
44
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. (8894706)
1996
45
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (8841189)
1996
46
A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. (8309575)
1994
47
Familial essential tremor and idiopathic torsion dystonia are different genetic entities. (8232931)
1993
48
Adult onset familial cervical dystonia: report of a family including monozygotic twins. (8232359)
1993
49
Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. (2296384)
1990
50
A familial study in serum dopamine-beta-hydroxylase levels in torsion dystonia. (4858093)
1974

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