MCID: BNG046
MIFTS: 39

Benign Hereditary Chorea malady

Neuronal, Genetic categories

Summaries for Benign Hereditary Chorea

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47OMIM, 33MalaCards
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MalaCards: Benign Hereditary Chorea, also known as chorea, hereditary benign, is related to myoclonus-dystonia and chorea, and has symptoms including abnormal gaitand movement disorder. An important gene associated with Benign Hereditary Chorea is NKX2-1 (NK2 homeobox 1), and among its related pathways are Insulin secretion and TSH signaling pathway. The compounds sodium iodide and iodide have been mentioned in the context of this disorder. Affiliated tissues include brain and thyroid, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Description from OMIM:47 118700,215450

Aliases & Classifications for Benign Hereditary Chorea

Sources:
20GeneTests, 22GTR, 61UMLS, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

benign hereditary chorea 20 22 61
chorea, hereditary benign 47
chorea benign hereditary 45
hereditary benign chorea 49
chorea, benign familial 61
benign familial chorea 49


External Ids:

ICD10 via Orphanet26 G25.5

Related Diseases for Benign Hereditary Chorea

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Benign Hereditary Chorea:



Diseases related to benign hereditary chorea

Clinical Features for Benign Hereditary Chorea

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

118700,215450

Clinical synopsis from OMIM:

118700

Symptoms:

49
  • abnormal gait
  • movement disorder

Drugs & Therapeutics for Benign Hereditary Chorea

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Benign Hereditary Chorea

Drug clinical trials:

Search ClinicalTrials for Benign Hereditary Chorea

Search NIH Clinical Center for Benign Hereditary Chorea

Search CenterWatch for Benign Hereditary Chorea

Genetic Tests for Benign Hereditary Chorea

Sources:
20GeneTests, 22GTR
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Genetic tests related to Benign Hereditary Chorea:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea20 22 NKX2-1

Anatomical Context for Benign Hereditary Chorea

Sources:
33MalaCards
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MalaCards organs/tissues related to Benign Hereditary Chorea:

33
Brain, Thyroid

Animal Models for Benign Hereditary Chorea or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Benign Hereditary Chorea:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4PAX8, PAX9, HTT
2MP:00053798.3HTT, NKX2-1, PAX9, PAX8
3MP:00053898.3PAX8, PAX9, NKX2-1, HTT
4MP:00053908.2HTT, NKX2-1, PAX9, PAX8
5MP:00036317.7PAX8, SGCE, GEMIN2, NKX2-1, HTT

Publications for Benign Hereditary Chorea

Sources:
51PubMed
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Articles related to Benign Hereditary Chorea:

(show all 42)
idTitleAuthorsYear
1
Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family. (22959176)
2013
2
Action selection in a possible model of striatal medium spiny neuron dysfunction: behavioral and EEG data in a patient with benign hereditary chorea. (24135770)
2013
3
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. (24171694)
2013
4
Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. (22825795)
2013
5
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. (21982616)
2012
6
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. (22832740)
2012
7
Benign hereditary chorea 2: pathological findings in an autopsy case. (22239265)
2012
8
Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. (21714005)
2011
9
Benign hereditary chorea: an update. (21292530)
2011
10
Benign hereditary chorea. (21496579)
2011
11
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. (20803509)
2010
12
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. (20544814)
2010
13
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. (18661567)
2008
14
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. (17765926)
2008
15
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. (18788921)
2008
16
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. (17940252)
2007
17
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (17702043)
2007
18
Benign hereditary chorea revisited: a journey to understanding. (17702033)
2007
19
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. (17405764)
2007
20
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. (17044090)
2006
21
Alterations of striatal neurons in benign hereditary chorea. (15986422)
2005
22
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (15955952)
2005
23
Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community]. (16028188)
2005
24
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. (16220345)
2005
25
Benign hereditary chorea: clinical, genetic, and pathological findings. (12891678)
2003
26
Clinical and genetic heterogeneity in benign hereditary chorea. (12196653)
2002
27
Mutations in TITF-1 are associated with benign hereditary chorea. (11971878)
2002
28
Hereditary benign chorea: clinical and genetic features of a distinct disease. (11445636)
2001
29
Benign hereditary chorea of early onset maps to chromosome 14q. (10631144)
2000
30
Benign hereditary chorea--entity or syndrome? (10752577)
2000
31
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. (8836592)
1996
32
Benign hereditary chorea improved on stimulant therapy. (8962590)
1996
33
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. (7634535)
1995
34
Benign hereditary chorea or hereditary idiopathic dystonia? (8341316)
1993
35
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. (8133497)
1993
36
Benign hereditary chorea. (8292207)
1993
37
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. (2141358)
1990
38
Benign hereditary chorea. A case report. (3167322)
1988
39
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). (2895189)
1988
40
Cerebral metabolism of glucose in benign hereditary chorea. (2973557)
1986
41
Benign hereditary chorea--response to steroids. (4092854)
1985
42
Benign hereditary chorea. Clinical and genetic aspects. (624192)
1978

Genetic Variations for Benign Hereditary Chorea

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Benign Hereditary Chorea:

63
id Symbol AA change Variation SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Expression for genes affiliated with Benign Hereditary Chorea

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Benign Hereditary Chorea

Search GEO for disease gene expression data for Benign Hereditary Chorea.

Pathways for genes affiliated with Benign Hereditary Chorea

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5PAX8, TTF1
29.5PAX8, TTF1

Compounds for genes affiliated with Benign Hereditary Chorea

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium iodide459.6PAX8, NKX2-1
2iodide45 2410.5PAX8, NKX2-1
3oligonucleotide458.8PAX8, NKX2-1, HTT
4forskolin45 50 1110.5HTT, NKX2-1, PAX8

GO Terms for genes affiliated with Benign Hereditary Chorea

Sources:
16Gene Ontology
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Cellular components related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.3PAX8, TTF1, GEMIN2, NKX2-1
2nucleusGO:0056347.4NKX2-1, GEMIN2, TTF1, PAX9, PAX8, HTT

Biological processes related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thyroid gland developmentGO:0308789.5PAX8, NKX2-1
2endoderm developmentGO:0074929.3PAX9, NKX2-1
3locomotory behaviorGO:0076269.3NKX2-1, HTT

Molecular functions related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.7PAX8, PAX9, TTF1, NKX2-1

Products for genes affiliated with Benign Hereditary Chorea

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Sources for Benign Hereditary Chorea

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