BHC
MCID: CHR630
MIFTS: 34

Chorea, Benign Hereditary (BHC)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Chorea, Benign Hereditary

MalaCards integrated aliases for Chorea, Benign Hereditary:

Name: Chorea, Benign Hereditary 57
Benign Hereditary Chorea 53 59 37 29 6 73
Chorea, Hereditary Benign 57 75 13
Bhc 57 59 75
Hereditary Progressive Chorea Without Dementia 57
Hereditary Chorea Without Dementia 75
Chorea, Hereditary, Benign 40
Chorea Benign Hereditary 55
Chorea, Benign Familial 73
Chorea Familial Benign 53
Benign Familial Chorea 59
Bch 57

Characteristics:

Orphanet epidemiological data:

59
benign hereditary chorea
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood (usually before age 5 years)
allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress , which is a more severe disorder


HPO:

32
chorea, benign hereditary:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 118700
Orphanet 59 ORPHA1429
UMLS via Orphanet 74 C0393584 C1859098
ICD10 via Orphanet 34 G25.5
MedGen 42 C0393584
MeSH 44 D002819
KEGG 37 H00860

Summaries for Chorea, Benign Hereditary

NIH Rare Diseases : 53 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.

MalaCards based summary : Chorea, Benign Hereditary, also known as benign hereditary chorea, is related to choreatic disease and choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction. An important gene associated with Chorea, Benign Hereditary is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid, lung and pituitary, and related phenotypes are gait disturbance and abnormality of movement

UniProtKB/Swiss-Prot : 75 Chorea, hereditary benign: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

Wikipedia : 76 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

Description from OMIM: 118700

Related Diseases for Chorea, Benign Hereditary

Diseases in the Chorea, Benign Familial family:

Chorea, Benign Hereditary

Diseases related to Chorea, Benign Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choreatic disease 29.5 ADCY5 NKX2-1
2 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.3
3 chorea, benign familial 11.1
4 testicular seminoma 10.9
5 loiasis 10.2
6 neuroblastoma 10.0
7 pediculus humanus capitis infestation 9.9
8 dyskinetic cerebral palsy 9.2 ADCY5 NKX2-1
9 trehalase deficiency 9.0 ADCY5 NKX2-1

Graphical network of the top 20 diseases related to Chorea, Benign Hereditary:



Diseases related to Chorea, Benign Hereditary

Symptoms & Phenotypes for Chorea, Benign Hereditary

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
chorea
delayed motor development
dysarthria may occur
gait abnormalities may occur
movements are exacerbated by anxiety
more

Clinical features from OMIM:

118700

Human phenotypes related to Chorea, Benign Hereditary:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 abnormality of movement 59 Very frequent (99-80%)
3 anxiety 32 HP:0000739
4 dysarthria 32 occasional (7.5%) HP:0001260
5 motor delay 32 HP:0001270
6 chorea 32 HP:0002072

Drugs & Therapeutics for Chorea, Benign Hereditary

Search Clinical Trials , NIH Clinical Center for Chorea, Benign Hereditary

Genetic Tests for Chorea, Benign Hereditary

Genetic tests related to Chorea, Benign Hereditary:

# Genetic test Affiliating Genes
1 Benign Hereditary Chorea 29 NKX2-1

Anatomical Context for Chorea, Benign Hereditary

MalaCards organs/tissues related to Chorea, Benign Hereditary:

41
Thyroid, Lung, Pituitary, Brain, Eye

Publications for Chorea, Benign Hereditary

Articles related to Chorea, Benign Hereditary:

(show all 49)
# Title Authors Year
1
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. ( 26723978 )
2016
2
ADCY5 mutations are another cause of benign hereditary chorea. ( 26085604 )
2015
3
ADCY5 Mutations and Benign Hereditary Chorea. ( 26933606 )
2015
4
Benign hereditary chorea: more than meets the eye. ( 24673582 )
2014
5
Benign hereditary chorea as an experimental model to investigate the role of medium spiny neurons for response adaptation. ( 24835591 )
2014
6
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
7
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. ( 25412988 )
2014
8
Benign hereditary chorea: a case report and brief review of inherited choreas. ( 25108317 )
2014
9
Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family. ( 22959176 )
2013
10
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. ( 24171694 )
2013
11
Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. ( 22825795 )
2013
12
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
13
Benign hereditary chorea 2: pathological findings in an autopsy case. ( 22239265 )
2012
14
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
15
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. ( 21982616 )
2012
16
Benign hereditary chorea: an update. ( 21292530 )
2011
17
Benign hereditary chorea. ( 21496579 )
2011
18
Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. ( 21714005 )
2011
19
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. ( 20544814 )
2010
20
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. ( 20803509 )
2010
21
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. ( 18788921 )
2008
22
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. ( 18661567 )
2008
23
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. ( 17765926 )
2008
24
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. ( 17702043 )
2007
25
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. ( 17405764 )
2007
26
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. ( 17940252 )
2007
27
Benign hereditary chorea revisited: a journey to understanding. ( 17702033 )
2007
28
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. ( 17044090 )
2006
29
[Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community]. ( 16028188 )
2005
30
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. ( 16220345 )
2005
31
Alterations of striatal neurons in benign hereditary chorea. ( 15986422 )
2005
32
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. ( 15955952 )
2005
33
Benign hereditary chorea: clinical, genetic, and pathological findings. ( 12891678 )
2003
34
Clinical and genetic heterogeneity in benign hereditary chorea. ( 12196653 )
2002
35
Mutations in TITF-1 are associated with benign hereditary chorea. ( 11971878 )
2002
36
Benign hereditary chorea of early onset maps to chromosome 14q. ( 10631144 )
2000
37
Benign hereditary chorea--entity or syndrome? ( 10752577 )
2000
38
A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. ( 8836592 )
1996
39
Benign hereditary chorea improved on stimulant therapy. ( 8962590 )
1996
40
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. ( 7634535 )
1995
41
Benign hereditary chorea or hereditary idiopathic dystonia? ( 8341316 )
1993
42
Benign hereditary chorea. ( 8292207 )
1993
43
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. ( 8133497 )
1993
44
Normal striatal glucose consumption in two patients with benign hereditary chorea as measured by positron emission tomography. ( 2141358 )
1990
45
Benign hereditary chorea. A case report. ( 3167322 )
1988
46
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). ( 2895189 )
1988
47
Cerebral metabolism of glucose in benign hereditary chorea. ( 2973557 )
1986
48
Benign hereditary chorea--response to steroids. ( 4092854 )
1985
49
Benign hereditary chorea. Clinical and genetic aspects. ( 624192 )
1978

Variations for Chorea, Benign Hereditary

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

75
# Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Trp208Leu VAR_015188 rs28936672
2 NKX2-1 p.Arg213Ser VAR_015189 rs28936671
3 NKX2-1 p.Gln172His VAR_075209
4 NKX2-1 p.Trp208Ser VAR_075210

ClinVar genetic disease variations for Chorea, Benign Hereditary:

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-1 NC_000014.8 deletion Pathogenic GRCh37 Chromosome 14, 36407609: 37670256
2 NKX2-1 NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser) single nucleotide variant Pathogenic rs28936671 GRCh37 Chromosome 14, 36986962: 36986962
3 NKX2-1 NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser) single nucleotide variant Pathogenic rs28936671 GRCh38 Chromosome 14, 36517757: 36517757
4 NKX2-1 NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu) single nucleotide variant Pathogenic rs28936672 GRCh37 Chromosome 14, 36986976: 36986976
5 NKX2-1 NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu) single nucleotide variant Pathogenic rs28936672 GRCh38 Chromosome 14, 36517771: 36517771
6 NKX2-1 NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs) deletion Pathogenic rs387906404 GRCh37 Chromosome 14, 36986781: 36986781
7 NKX2-1 NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs) deletion Pathogenic rs387906404 GRCh38 Chromosome 14, 36517576: 36517576
8 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> T single nucleotide variant Pathogenic rs587776708 GRCh37 Chromosome 14, 36987227: 36987227
9 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> T single nucleotide variant Pathogenic rs587776708 GRCh38 Chromosome 14, 36518022: 36518022
10 NKX2-1 NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs137852694 GRCh37 Chromosome 14, 36986944: 36986944
11 NKX2-1 NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs137852694 GRCh38 Chromosome 14, 36517739: 36517739
12 NKX2-1 NM_001079668.2(NKX2-1): c.1106C> T (p.Ala369Val) single nucleotide variant Likely benign rs537209983 GRCh37 Chromosome 14, 36986583: 36986583
13 NKX2-1 NM_001079668.2(NKX2-1): c.1106C> T (p.Ala369Val) single nucleotide variant Likely benign rs537209983 GRCh38 Chromosome 14, 36517378: 36517378
14 NKX2-1 NM_001079668.2(NKX2-1): c.*579C> G single nucleotide variant Likely benign rs566916288 GRCh37 Chromosome 14, 36985904: 36985904
15 NKX2-1 NM_001079668.2(NKX2-1): c.*579C> G single nucleotide variant Likely benign rs566916288 GRCh38 Chromosome 14, 36516699: 36516699
16 NKX2-1 NM_001079668.2(NKX2-1): c.*544G> A single nucleotide variant Uncertain significance rs886050478 GRCh37 Chromosome 14, 36985939: 36985939
17 NKX2-1 NM_001079668.2(NKX2-1): c.*544G> A single nucleotide variant Uncertain significance rs886050478 GRCh38 Chromosome 14, 36516734: 36516734
18 NKX2-1 NM_001079668.2(NKX2-1): c.*459_*460dupTT duplication Uncertain significance rs112799458 GRCh37 Chromosome 14, 36986023: 36986024
19 NKX2-1 NM_001079668.2(NKX2-1): c.*459_*460dupTT duplication Uncertain significance rs112799458 GRCh38 Chromosome 14, 36516818: 36516819
20 NKX2-1 NM_001079668.2(NKX2-1): c.*210T> A single nucleotide variant Benign rs10139625 GRCh37 Chromosome 14, 36986273: 36986273
21 NKX2-1 NM_001079668.2(NKX2-1): c.*210T> A single nucleotide variant Benign rs10139625 GRCh38 Chromosome 14, 36517068: 36517068
22 NKX2-1 NM_001079668.2(NKX2-1): c.1200C> T (p.Thr400=) single nucleotide variant Uncertain significance rs886050481 GRCh37 Chromosome 14, 36986489: 36986489
23 NKX2-1 NM_001079668.2(NKX2-1): c.1200C> T (p.Thr400=) single nucleotide variant Uncertain significance rs886050481 GRCh38 Chromosome 14, 36517284: 36517284
24 NKX2-1 NM_001079668.2(NKX2-1): c.816C> T (p.Thr272=) single nucleotide variant Uncertain significance rs886050483 GRCh38 Chromosome 14, 36517668: 36517668
25 NKX2-1 NM_001079668.2(NKX2-1): c.816C> T (p.Thr272=) single nucleotide variant Uncertain significance rs886050483 GRCh37 Chromosome 14, 36986873: 36986873
26 NKX2-1 NM_001079668.2(NKX2-1): c.535G> T (p.Val179Leu) single nucleotide variant Likely benign rs575848748 GRCh38 Chromosome 14, 36517949: 36517949
27 NKX2-1 NM_001079668.2(NKX2-1): c.535G> T (p.Val179Leu) single nucleotide variant Likely benign rs575848748 GRCh37 Chromosome 14, 36987154: 36987154
28 NKX2-1 NM_001079668.2(NKX2-1): c.435C> G (p.Gly145=) single nucleotide variant Uncertain significance rs886050484 GRCh38 Chromosome 14, 36519013: 36519013
29 NKX2-1 NM_001079668.2(NKX2-1): c.435C> G (p.Gly145=) single nucleotide variant Uncertain significance rs886050484 GRCh37 Chromosome 14, 36988218: 36988218
30 NKX2-1 NM_001079668.2(NKX2-1): c.-71C> A single nucleotide variant Uncertain significance rs886050485 GRCh38 Chromosome 14, 36520200: 36520200
31 NKX2-1 NM_001079668.2(NKX2-1): c.-71C> A single nucleotide variant Uncertain significance rs886050485 GRCh37 Chromosome 14, 36989405: 36989405
32 NKX2-1 NM_001079668.2(NKX2-1): c.*470A> G single nucleotide variant Uncertain significance rs886050479 GRCh37 Chromosome 14, 36986013: 36986013
33 NKX2-1 NM_001079668.2(NKX2-1): c.*470A> G single nucleotide variant Uncertain significance rs886050479 GRCh38 Chromosome 14, 36516808: 36516808
34 NKX2-1 NM_001079668.2(NKX2-1): c.*436A> C single nucleotide variant Likely benign rs79849967 GRCh37 Chromosome 14, 36986047: 36986047
35 NKX2-1 NM_001079668.2(NKX2-1): c.*436A> C single nucleotide variant Likely benign rs79849967 GRCh38 Chromosome 14, 36516842: 36516842
36 NKX2-1 NM_001079668.2(NKX2-1): c.*292dupG duplication Benign rs140427692 GRCh38 Chromosome 14, 36516986: 36516986
37 NKX2-1 NM_001079668.2(NKX2-1): c.*292dupG duplication Benign rs140427692 GRCh37 Chromosome 14, 36986191: 36986191
38 NKX2-1 NM_001079668.2(NKX2-1): c.1093G> T (p.Ala365Ser) single nucleotide variant Benign/Likely benign rs147542347 GRCh37 Chromosome 14, 36986596: 36986596
39 NKX2-1 NM_001079668.2(NKX2-1): c.1093G> T (p.Ala365Ser) single nucleotide variant Benign/Likely benign rs147542347 GRCh38 Chromosome 14, 36517391: 36517391
40 NKX2-1 NM_001079668.2(NKX2-1): c.657G> A (p.Pro219=) single nucleotide variant Uncertain significance rs778886269 GRCh38 Chromosome 14, 36517827: 36517827
41 NKX2-1 NM_001079668.2(NKX2-1): c.657G> A (p.Pro219=) single nucleotide variant Uncertain significance rs778886269 GRCh37 Chromosome 14, 36987032: 36987032
42 NKX2-1 NM_001079668.2(NKX2-1): c.29G> A (p.Arg10Gln) single nucleotide variant Likely benign rs201979429 GRCh38 Chromosome 14, 36520101: 36520101
43 NKX2-1 NM_001079668.2(NKX2-1): c.29G> A (p.Arg10Gln) single nucleotide variant Likely benign rs201979429 GRCh37 Chromosome 14, 36989306: 36989306
44 NKX2-1 NM_001079668.2(NKX2-1): c.-85G> T single nucleotide variant Benign rs2076751 GRCh38 Chromosome 14, 36520214: 36520214
45 NKX2-1 NM_001079668.2(NKX2-1): c.-85G> T single nucleotide variant Benign rs2076751 GRCh37 Chromosome 14, 36989419: 36989419
46 NKX2-1 NM_001079668.2(NKX2-1): c.*820A> G single nucleotide variant Uncertain significance rs886050477 GRCh37 Chromosome 14, 36985663: 36985663
47 NKX2-1 NM_001079668.2(NKX2-1): c.*820A> G single nucleotide variant Uncertain significance rs886050477 GRCh38 Chromosome 14, 36516458: 36516458
48 NKX2-1 NM_001079668.2(NKX2-1): c.*581delC deletion Likely benign rs534281105 GRCh37 Chromosome 14, 36985902: 36985902
49 NKX2-1 NM_001079668.2(NKX2-1): c.*581delC deletion Likely benign rs534281105 GRCh38 Chromosome 14, 36516697: 36516697
50 NKX2-1 NM_001079668.2(NKX2-1): c.*460delT deletion Uncertain significance rs5807883 GRCh37 Chromosome 14, 36986023: 36986023

Expression for Chorea, Benign Hereditary

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

Pathways for Chorea, Benign Hereditary

GO Terms for Chorea, Benign Hereditary

Biological processes related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.62 ADCY5 NKX2-1

Sources for Chorea, Benign Hereditary

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11 DGIdb
17 ExPASy
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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