BHC
MCID: CHR630
MIFTS: 39

Chorea, Benign Hereditary (BHC)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory 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 72
Chorea, Hereditary Benign 57 74 13
Bhc 57 59 74
Hereditary Progressive Chorea Without Dementia 57
Hereditary Chorea Without Dementia 74
Chorea, Hereditary, Benign 40
Chorea Benign Hereditary 55
Chorea, Benign Familial 72
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:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 118700
KEGG 37 H00860
MeSH 44 D002819
ICD10 via Orphanet 34 G25.5
UMLS via Orphanet 73 C0393584 C1859098
Orphanet 59 ORPHA1429
MedGen 42 C0393584
UMLS 72 C0393584 C1859098

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 brain, and related phenotypes are gait disturbance and dysarthria

KEGG : 37
Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis.

UniProtKB/Swiss-Prot : 74 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 : 75 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

More information 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:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 29.7 NKX2-1 ADCY5
2 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.9
3 chorea, benign familial 11.7
4 testicular seminoma 11.3
5 hypothyroidism 10.5
6 ataxia and polyneuropathy, adult-onset 10.4
7 chorea, childhood-onset, with psychomotor retardation 10.4
8 movement disease 10.4
9 myoclonus 10.4
10 loiasis 10.3
11 congenital hypothyroidism 10.3
12 hepatocellular carcinoma 10.2
13 hyperglycemia 10.2
14 tremor 10.2
15 hypotonia 10.2
16 prostate cancer 10.2
17 generalized epilepsy with febrile seizures plus 10.2
18 tic disorder 10.2
19 dementia 10.1
20 dystonia 10.1
21 erythroleukemia, familial 10.1
22 myeloma, multiple 10.1
23 epidemic typhus 10.1
24 chagas disease 10.1
25 scrub typhus 10.1
26 plague 10.1
27 skin disease 10.1
28 pediculus humanus capitis infestation 10.1
29 lice infestation 10.1
30 scabies 10.1
31 virus-associated trichodysplasia spinulosa 10.1
32 dentatorubral-pallidoluysian atrophy 10.1
33 huntington disease-like 2 10.1
34 spinocerebellar ataxia 17 10.1
35 apraxia 10.1
36 autosomal dominant cerebellar ataxia 10.1
37 lung disease 10.1
38 adcy5-related dyskinesia 10.1
39 oculomotor apraxia 10.1
40 neurofibromatosis, type iv, of riccardi 10.1
41 thrombophilia due to thrombin defect 10.1
42 neuroblastoma 1 10.1
43 osteogenic sarcoma 10.1
44 pancreatic cancer 10.1
45 allergic rhinitis 10.1
46 pachyonychia congenita 3 10.1
47 pollen allergy 10.1
48 non-alcoholic fatty liver disease 10.1
49 visual epilepsy 10.1
50 adenocarcinoma 10.1

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



Diseases related to Chorea, Benign Hereditary

Symptoms & Phenotypes for Chorea, Benign Hereditary

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 dysarthria 32 occasional (7.5%) HP:0001260
3 chorea 32 HP:0002072
4 abnormality of movement 59 Very frequent (99-80%)
5 anxiety 32 HP:0000739
6 motor delay 32 HP:0001270

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

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, Brain, Pituitary, Testes, Eye, Cortex

Publications for Chorea, Benign Hereditary

Articles related to Chorea, Benign Hereditary:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Mutations in TITF-1 are associated with benign hereditary chorea. 9 38 8 71
11971878 2002
2
Benign hereditary chorea: clinical, genetic, and pathological findings. 38 8 71
12891678 2003
3
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. 9 38 71
16220345 2005
4
NKX2-1-Related Disorders 38 71
24555207 2014
5
Clinical and genetic heterogeneity in benign hereditary chorea. 38 8
12196653 2002
6
Hereditary benign chorea: clinical and genetic features of a distinct disease. 38 8
11445636 2001
7
Benign hereditary chorea of early onset maps to chromosome 14q. 38 8
10631144 2000
8
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. 38 8
7634535 1995
9
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. 38 8
8133497 1993
10
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). 38 8
2895189 1988
11
Benign hereditary chorea--response to steroids. 38 8
4092854 1985
12
Benign hereditary chorea. Clinical and genetic aspects. 38 8
624192 1978
13
Hereditary progressive chorea without dementia. 8
2964512 1988
14
Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families. 8
3159307 1985
15
Hereditary chorea without dementia. 8
144176 1977
16
Familial essential ("benign") chorea. 8
1003446 1976
17
Benign familial chorea with onset in childhood. 8
4269386 1973
18
Hereditary nonprogressive chorea of early onset. 8
4225827 1967
19
Familial benign chorea with intention tremor: a clinical entity. 8
4225654 1967
20
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 9 38
19336474 2009
21
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 9 38
18788921 2008
22
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. 9 38
18661567 2008
23
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. 9 38
17940252 2007
24
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. 9 38
17044090 2006
25
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. 9 38
16830318 2006
26
Alterations of striatal neurons in benign hereditary chorea. 9 38
15986422 2005
27
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 9 38
15955952 2005
28
Chorea. 38
31356291 2019
29
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 38
30956058 2019
30
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. 38
30746413 2019
31
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 38
30793011 2019
32
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? 38
29621620 2018
33
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. 38
29289388 2018
34
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 38
30186310 2018
35
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 38
28286255 2017
36
Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New? 38
30713928 2016
37
Phenotypic insights into ADCY5-associated disease. 38
27061943 2016
38
ADCY5 mutations are another cause of benign hereditary chorea. 38
26952302 2016
39
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 38
27066577 2016
40
Benign hereditary chorea, not only chorea: a family case presentation. 38
26839702 2016
41
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. 38
28503612 2016
42
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. 38
26723978 2016
43
ADCY5 identified as a novel cause of benign hereditary chorea. 38
26408352 2015
44
ADCY5 Mutations and Benign Hereditary Chorea. 38
26933606 2015
45
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. 38
25412988 2015
46
ADCY5 mutations are another cause of benign hereditary chorea. 38
26085604 2015
47
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 38
25643588 2015
48
Action selection in a possible model of striatal medium spiny neuron dysfunction: behavioral and EEG data in a patient with benign hereditary chorea. 38
24135770 2015
49
Benign Hereditary Chorea: An Update. 38
26196025 2015
50
Benign hereditary chorea: a case report and brief review of inherited choreas. 38
25108317 2014

Variations for Chorea, Benign Hereditary

ClinVar genetic disease variations for Chorea, Benign Hereditary:

6 (show all 36)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-1 NM_001079668.3(NKX2-1): c.1050del (p.Gln350fs) deletion Pathogenic rs1555349146 14:36986639-36986639 14:36517434-36517434
2 NKX2-1 NC_000014.8 deletion Pathogenic 14:36407609-37670256 :0-0
3 NKX2-1 NM_001079668.3(NKX2-1): c.727C> A (p.Arg243Ser) single nucleotide variant Pathogenic rs28936671 14:36986962-36986962 14:36517757-36517757
4 NKX2-1 NM_001079668.3(NKX2-1): c.713G> T (p.Trp238Leu) single nucleotide variant Pathogenic rs28936672 14:36986976-36986976 14:36517771-36517771
5 NKX2-1 NM_001079668.3(NKX2-1): c.908del (p.Gly303fs) deletion Pathogenic rs387906404 14:36986781-36986781 14:36517576-36517576
6 NKX2-1 NM_001079668.3(NKX2-1): c.464-2A> T single nucleotide variant Pathogenic rs587776708 14:36987227-36987227 14:36518022-36518022
7 NKX2-1 NM_001079668.3(NKX2-1): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs137852694 14:36986944-36986944 14:36517739-36517739
8 NKX2-1 NM_001079668.3(NKX2-1): c.(?_-1)_*(1206_?)del deletion Pathogenic 14:36985277-36989335 14:36516072-36520130
9 NKX2-1 NM_001079668.3(NKX2-1): c.201G> A (p.Pro67=) single nucleotide variant Uncertain significance rs747491554 14:36988452-36988452 14:36519247-36519247
10 NKX2-1 NM_001079668.3(NKX2-1): c.925G> T (p.Ala309Ser) single nucleotide variant Uncertain significance rs886050482 14:36986764-36986764 14:36517559-36517559
11 NKX2-1 NM_001079668.3(NKX2-1): c.*186dup duplication Uncertain significance rs1555349072 14:36986297-36986297 14:36517092-36517092
12 NKX2-1 NM_001079668.3(NKX2-1): c.657G> A (p.Pro219=) single nucleotide variant Uncertain significance rs778886269 14:36987032-36987032 14:36517827-36517827
13 NKX2-1 NM_001079668.3(NKX2-1): c.*820A> G single nucleotide variant Uncertain significance rs886050477 14:36985663-36985663 14:36516458-36516458
14 NKX2-1 NM_001079668.3(NKX2-1): c.*460del deletion Uncertain significance rs5807883 14:36986023-36986023 14:36516818-36516818
15 NKX2-1 NM_001079668.3(NKX2-1): c.*185_*186dup duplication Uncertain significance rs1555349072 14:36986297-36986298 14:36517092-36517093
16 NKX2-1 NM_001079668.3(NKX2-1): c.*460dup duplication Uncertain significance rs5807883 14:36986023-36986023 14:36516818-36516818
17 NKX2-1 NM_001079668.3(NKX2-1): c.*210dup duplication Uncertain significance rs886050480 14:36986273-36986273 14:36517068-36517068
18 NKX2-1 NM_001079668.3(NKX2-1): c.*544G> A single nucleotide variant Uncertain significance rs886050478 14:36985939-36985939 14:36516734-36516734
19 NKX2-1 NM_001079668.3(NKX2-1): c.*459_*460dup duplication Uncertain significance rs5807883 14:36986023-36986024 14:36516818-36516819
20 NKX2-1 NM_001079668.3(NKX2-1): c.1200C> T (p.Thr400=) single nucleotide variant Uncertain significance rs886050481 14:36986489-36986489 14:36517284-36517284
21 NKX2-1 NM_001079668.3(NKX2-1): c.816C> T (p.Thr272=) single nucleotide variant Uncertain significance rs886050483 14:36986873-36986873 14:36517668-36517668
22 NKX2-1 NM_001079668.3(NKX2-1): c.435C> G (p.Gly145=) single nucleotide variant Uncertain significance rs886050484 14:36988218-36988218 14:36519013-36519013
23 NKX2-1 NM_001079668.3(NKX2-1): c.-71C> A single nucleotide variant Uncertain significance rs886050485 14:36989405-36989405 14:36520200-36520200
24 NKX2-1 NM_001079668.3(NKX2-1): c.*470A> G single nucleotide variant Uncertain significance rs886050479 14:36986013-36986013 14:36516808-36516808
25 NKX2-1 NM_001079668.3(NKX2-1): c.*436A> C single nucleotide variant Likely benign rs79849967 14:36986047-36986047 14:36516842-36516842
26 NKX2-1 NM_001079668.3(NKX2-1): c.535G> T (p.Val179Leu) single nucleotide variant Likely benign rs575848748 14:36987154-36987154 14:36517949-36517949
27 NKX2-1 NM_001079668.3(NKX2-1): c.1106C> T (p.Ala369Val) single nucleotide variant Likely benign rs537209983 14:36986583-36986583 14:36517378-36517378
28 NKX2-1 NM_001079668.3(NKX2-1): c.*579C> G single nucleotide variant Likely benign rs566916288 14:36985904-36985904 14:36516699-36516699
29 NKX2-1 NM_001079668.3(NKX2-1): c.*209T> A single nucleotide variant Likely benign rs572546897 14:36986274-36986274 14:36517069-36517069
30 NKX2-1 NM_001079668.3(NKX2-1): c.*581del deletion Likely benign rs534281105 14:36985902-36985902 14:36516697-36516697
31 NKX2-1 NM_001079668.3(NKX2-1): c.29G> A (p.Arg10Gln) single nucleotide variant Likely benign rs201979429 14:36989306-36989306 14:36520101-36520101
32 NKX2-1 NM_001079668.3(NKX2-1): c.*14C> T single nucleotide variant Likely benign rs755542970 14:36986469-36986469 14:36517264-36517264
33 NKX2-1 NM_001079668.3(NKX2-1): c.1093G> T (p.Ala365Ser) single nucleotide variant Benign/Likely benign rs147542347 14:36986596-36986596 14:36517391-36517391
34 NKX2-1 NM_001079668.3(NKX2-1): c.-85G> T single nucleotide variant Benign rs2076751 14:36989419-36989419 14:36520214-36520214
35 NKX2-1 NM_001079668.3(NKX2-1): c.*210T> A single nucleotide variant Benign rs10139625 14:36986273-36986273 14:36517068-36517068
36 NKX2-1 NM_001079668.3(NKX2-1): c.*292dup duplication Benign rs140427692 14:36986191-36986191 14:36516986-36516986

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

74
# 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

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 NKX2-1 ADCY5

Sources for Chorea, Benign Hereditary

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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50 NCIt
51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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