MCID: BNG046
MIFTS: 53

Benign Hereditary Chorea malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Benign Hereditary Chorea

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NIH Rare Diseases:42 Benign hereditary chorea (bhc) is a rare movement disorder that begins in infancy or childhood. signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. the chorea often improves with time. in some cases, myoclonus persists or worsens. children with bhc can have normal intellect, but may have learning and behavior problems. other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). treatment is tailored to each child. tetrabenazine and levodopa have been tried in individual cases with some success. bhc is caused by mutations in the nkx2-1 gene (also known as the titf1 gene). it is passed through families in an autosomal dominant fashion. last updated: 8/7/2014

MalaCards based summary: 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 thyroid, lung and eye, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Descriptions from OMIM:46 118700,215450

Aliases & Classifications for Benign Hereditary Chorea

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Benign Hereditary Chorea, Aliases & Descriptions:

Name: Benign Hereditary Chorea 42 20 22 62
Chorea, Hereditary Benign 46
Chorea Benign Hereditary 44
Hereditary Benign Chorea 48
 
Chorea, Benign Familial 62
Chorea Familial Benign 42
Benign Familial Chorea 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 G25.5
UMLS via Orphanet63 C0393584

Related Diseases for Benign Hereditary Chorea

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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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Symptoms by clinical synopsis from OMIM:

118700

Clinical features from OMIM:

118700,215450

Symptoms:

48
  • abnormal gait
  • movement disorder

HPO human phenotypes related to Benign Hereditary Chorea:

(show all 11)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 autosomal dominant inheritance HP:0000006
3 anxiety HP:0000739
4 dysarthria HP:0001260
5 motor delay HP:0001270
6 gait disturbance HP:0001288
7 chorea HP:0002072
8 juvenile onset HP:0003621
9 phenotypic variability HP:0003812
10 autosomal recessive inheritance HP:0000007
11 chorea HP:0002072

Drugs & Therapeutics for Benign Hereditary Chorea

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Drug clinical trials:

Search ClinicalTrials for Benign Hereditary Chorea

Search NIH Clinical Center for Benign Hereditary Chorea

Genetic Tests for Benign Hereditary Chorea

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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

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MalaCards organs/tissues related to Benign Hereditary Chorea:

32
Thyroid, Lung, Eye, Brain, Pituitary

Animal Models for Benign Hereditary Chorea or affiliated genes

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MGI Mouse Phenotypes related to Benign Hereditary Chorea:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5PAX8, PAX9, HTT
2MP:00053828.4PAX8, PAX9, PVRL1, HTT
3MP:00053798.3PAX8, PAX9, HTT, NKX2-1
4MP:00053908.3NKX2-1, HTT, PAX9, PAX8
5MP:00053858.2NKX2-1, HTT, PAX8, SGCE
6MP:00053868.1SGCE, PAX9, PVRL1, HTT, NKX2-1
7MP:00053897.9NKX2-1, HTT, PAX9, PAX8
8MP:00053787.8PAX8, PAX9, PVRL1, HTT, NKX2-1
9MP:00036317.8GEMIN2, NKX2-1, HTT, PAX8, SGCE
10MP:00107687.5GEMIN2, NKX2-1, HTT, PVRL1, PAX9, PAX8

Publications for Benign Hereditary Chorea

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Articles related to Benign Hereditary Chorea:

(show all 45)
idTitleAuthorsYear
1
Benign hereditary chorea: a case report and brief review of inherited choreas. (25108317)
2014
2
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature. (24930029)
2014
3
Benign hereditary chorea: more than meets the eye. (24673582)
2014
4
Benign hereditary chorea as an experimental model to investigate the role of medium spiny neurons for response adaptation. (24835591)
2014
5
Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family. (22959176)
2013
6
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
7
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. (24171694)
2013
8
Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. (22825795)
2013
9
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. (21982616)
2012
10
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
11
Benign hereditary chorea 2: pathological findings in an autopsy case. (22239265)
2012
12
Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. (21714005)
2011
13
Benign hereditary chorea: an update. (21292530)
2011
14
Benign hereditary chorea. (21496579)
2011
15
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. (20803509)
2010
16
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. (20544814)
2010
17
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. (18661567)
2008
18
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. (17765926)
2008
19
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. (18788921)
2008
20
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. (17940252)
2007
21
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (17702043)
2007
22
Benign hereditary chorea revisited: a journey to understanding. (17702033)
2007
23
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. (17405764)
2007
24
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. (17044090)
2006
25
Alterations of striatal neurons in benign hereditary chorea. (15986422)
2005
26
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (15955952)
2005
27
Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community]. (16028188)
2005
28
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. (16220345)
2005
29
Benign hereditary chorea: clinical, genetic, and pathological findings. (12891678)
2003
30
Clinical and genetic heterogeneity in benign hereditary chorea. (12196653)
2002
31
Mutations in TITF-1 are associated with benign hereditary chorea. (11971878)
2002
32
Benign hereditary chorea of early onset maps to chromosome 14q. (10631144)
2000
33
Benign hereditary chorea--entity or syndrome? (10752577)
2000
34
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. (8836592)
1996
35
Benign hereditary chorea improved on stimulant therapy. (8962590)
1996
36
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. (7634535)
1995
37
Benign hereditary chorea or hereditary idiopathic dystonia? (8341316)
1993
38
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. (8133497)
1993
39
Benign hereditary chorea. (8292207)
1993
40
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. (2141358)
1990
41
Benign hereditary chorea. A case report. (3167322)
1988
42
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). (2895189)
1988
43
Cerebral metabolism of glucose in benign hereditary chorea. (2973557)
1986
44
Benign hereditary chorea--response to steroids. (4092854)
1985
45
Benign hereditary chorea. Clinical and genetic aspects. (624192)
1978

Variations for Benign Hereditary Chorea

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UniProtKB/Swiss-Prot genetic disease variations for Benign Hereditary Chorea:

64
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Clinvar genetic disease variations for Benign Hereditary Chorea:

6
id Gene Name Type Significance SNP ID Assembly Location
1NC_000014.8deletionPathogenicGRCh37Chr 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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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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Pathways related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Benign Hereditary Chorea

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium iodide449.5NKX2-1, PAX8
2iodide44 2410.4NKX2-1, PAX8
3oligonucleotide448.7NKX2-1, HTT, PAX8
4forskolin44 50 1110.4PAX8, HTT, NKX2-1

GO Terms for genes affiliated with Benign Hereditary Chorea

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

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.2HTT, PVRL1
2nucleoplasmGO:0056548.5GEMIN2, TTF1, PAX8, NKX2-1
3nucleusGO:0056347.0GEMIN2, TTF1, PAX8, PAX9, HTT, NKX2-1

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

idNameGO IDScoreTop Affiliating Genes
1endoderm developmentGO:0074929.6NKX2-1, PAX9
2thyroid gland developmentGO:0308789.5NKX2-1, PAX8
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.1NKX2-1, 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:0036778.6NKX2-1, PAX9, PAX8, TTF1
3protein bindingGO:0055157.0PAX8, PAX9, PVRL1, HTT, NKX2-1, GEMIN2

Products for genes affiliated with Benign Hereditary Chorea

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Sources for Benign Hereditary Chorea

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet