MCID: BNG046
MIFTS: 49

Benign Hereditary Chorea malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Benign Hereditary Chorea

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48OMIM, 34MalaCards
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MalaCards: Benign Hereditary Chorea, also known as chorea, hereditary benign, is related to myoclonus-dystonia and hypothyroidism, 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 craniofacial.

Description from OMIM:48 118700,215450

Aliases & Classifications for Benign Hereditary Chorea

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21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

benign hereditary chorea 21 23 63
chorea, hereditary benign 48
chorea benign hereditary 46
hereditary benign chorea 50
chorea, benign familial 63
benign familial chorea 50


External Ids:

SNOMED-CT via Orphanet60 230306001
ICD10 via Orphanet27 G25.5
UMLS via Orphanet64 C0393584

Related Diseases for Benign Hereditary Chorea

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Benign Hereditary Chorea:



Diseases related to benign hereditary chorea

Symptoms for Benign Hereditary Chorea

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

118700

Clinical features from OMIM:

118700,215450

Symptoms:

50
  • abnormal gait
  • movement disorder

Drugs & Therapeutics for Benign Hereditary Chorea

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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Genetic tests related to Benign Hereditary Chorea:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea21 23 NKX2-1

Anatomical Context for Benign Hereditary Chorea

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34MalaCards
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MalaCards organs/tissues related to Benign Hereditary Chorea:

34
Brain, Thyroid

Animal Models for Benign Hereditary Chorea or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Benign Hereditary Chorea:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7PAX9, HTT, PAX8
2MP:00053828.6PAX9, HTT, PAX8
3MP:00053798.4HTT, NKX2-1, PAX8, PAX9
4MP:00053908.4PAX8, PAX9, HTT, NKX2-1
5MP:00053898.3NKX2-1, HTT, PAX9, PAX8
6MP:00053858.0PAX8, SGCE, HTT, NKX2-1
7MP:00053868.0SGCE, PAX9, HTT, NKX2-1
8MP:00036317.8SGCE, GEMIN2, NKX2-1, HTT, PAX8
9MP:00107687.7GEMIN2, PAX8, PAX9, HTT, NKX2-1

Publications for Benign Hereditary Chorea

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53PubMed
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Articles related to Benign Hereditary Chorea:

(show all 41)
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
Benign hereditary chorea of early onset maps to chromosome 14q. (10631144)
2000
29
Benign hereditary chorea--entity or syndrome? (10752577)
2000
30
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. (8836592)
1996
31
Benign hereditary chorea improved on stimulant therapy. (8962590)
1996
32
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. (7634535)
1995
33
Benign hereditary chorea or hereditary idiopathic dystonia? (8341316)
1993
34
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. (8133497)
1993
35
Benign hereditary chorea. (8292207)
1993
36
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. (2141358)
1990
37
Benign hereditary chorea. A case report. (3167322)
1988
38
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). (2895189)
1988
39
Cerebral metabolism of glucose in benign hereditary chorea. (2973557)
1986
40
Benign hereditary chorea--response to steroids. (4092854)
1985
41
Benign hereditary chorea. Clinical and genetic aspects. (624192)
1978

Variations for Benign Hereditary Chorea

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Benign Hereditary Chorea:

65
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Clinvar genetic disease variations for Benign Hereditary Chorea:

1
id Gene Name Type Significance SNP ID Assembly Location
1NC_000014.8: g.(36407609_36463186)_(37638963_37670154)deldeletionPathogenicGRCh37Chr 14, 36467609: 37670254
2NKX2-1NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser)single nucleotide variantPathogenicrs28936671GRCh37Chr 14, 36986962: 36986962
3NKX2-1NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu)single nucleotide variantPathogenicrs28936672GRCh37Chr 14, 36986976: 36986976
4NKX2-1NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs)deletionPathogenicrs387906404GRCh37Chr 14, 36986781: 36986781
5NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Tsingle nucleotide variantPathogenicGRCh37Chr 14, 36987227: 36987227
6NKX2-1NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs137852694GRCh37Chr 14, 36986944: 36986944

Expression for genes affiliated with Benign Hereditary Chorea

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Benign Hereditary Chorea

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Pathways for genes affiliated with Benign Hereditary Chorea

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51PathCards, 31KEGG, 56Reactome, 39NCBI 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
Show member pathways
9.4PAX8, TTF1
29.4PAX8, TTF1

Compounds for genes affiliated with Benign Hereditary Chorea

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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium iodide469.5PAX8, NKX2-1
2iodide46 2510.4PAX8, NKX2-1
3oligonucleotide468.7PAX8, HTT, NKX2-1
4forskolin46 52 1210.4PAX8, HTT, NKX2-1

GO Terms for genes affiliated with Benign Hereditary Chorea

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17Gene Ontology
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Cellular components related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.2TTF1, PAX8, NKX2-1, GEMIN2
2nucleusGO:0056347.3TTF1, PAX8, PAX9, HTT, NKX2-1, GEMIN2

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

idNameGO IDScoreTop Affiliating Genes
1endoderm developmentGO:0074929.5NKX2-1, PAX9
2thyroid gland developmentGO:0308789.5NKX2-1, PAX8
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.0NKX2-1, PAX9, PAX8
4locomotory behaviorGO:0076269.0NKX2-1, HTT

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.5NKX2-1, PAX8
2DNA bindingGO:0036778.3NKX2-1, PAX9, PAX8, TTF1

Products for genes affiliated with Benign Hereditary Chorea

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Sources for Benign Hereditary Chorea

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet