BHC
MCID: CHR423
MIFTS: 31

Chorea, Hereditary Benign (BHC) malady

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

Aliases & Classifications for Chorea, Hereditary Benign

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 54 66 13
Benign Hereditary Chorea 50 24 69
Hereditary Benign Chorea 56 29
Benign Familial Chorea 56 29
Chorea 42 69
Bhc 24 66
Hereditary Chorea Without Dementia 66
Chorea Benign Hereditary 52
Chorea, Benign Familial 69
Chorea Familial Benign 50

Characteristics:

Orphanet epidemiological data:

56
benign familial chorea
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 118700
Orphanet 56 ORPHA1429
UMLS via Orphanet 70 C0393584
ICD10 via Orphanet 34 G25.5
MedGen 40 C0393584
MeSH 42 D002819

Summaries for Chorea, Hereditary Benign

NIH Rare Diseases : 50 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 : Chorea, Hereditary Benign, also known as benign hereditary chorea, is related to sydenham chorea and chorea gravidarum, and has symptoms including gait disturbance, dysarthria and chorea. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include lung and thyroid, and related phenotype is behavior/neurological.

UniProtKB/Swiss-Prot : 66 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 : 71 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

Description from OMIM: 118700

Related Diseases for Chorea, Hereditary Benign

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

(show all 23)
id Related Disease Score Top Affiliating Genes
1 sydenham chorea 12.4
2 chorea gravidarum 12.2
3 chorea minor 11.9
4 huntington disease 11.9
5 morvan's fibrillary chorea 11.9
6 choreatic disease 11.9
7 chorea and dementia 11.9
8 choreoacanthocytosis 11.8
9 chorea, remitting with nystagmus and cataracts 11.8
10 pontocerebellar hypoplasia, type 2e 11.3
11 choreoathetosis, hypothyroidism, and neonatal respiratory distress 11.2
12 loiasis 10.1
13 dystonia 10.0
14 neuronitis 10.0
15 small cell carcinoma 9.9 ADCY5 NKX2-1
16 hypothyroidism 9.9
17 myoclonus 9.9
18 pediculus humanus capitis infestation 9.8
19 cerebritis 9.8
20 thyroiditis 9.8
21 ataxia 9.8
22 restless legs syndrome 2 9.6 ADCY5 FRRS1L NKX2-1
23 sjogren's syndrome 9.5 ADCY5 FRRS1L NKX2-1

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



Diseases related to Chorea, Hereditary Benign

Symptoms & Phenotypes for Chorea, Hereditary Benign

Symptoms by clinical synopsis from OMIM:

118700

Clinical features from OMIM:

118700

Human phenotypes related to Chorea, Hereditary Benign:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
2 dysarthria 32 HP:0001260
3 chorea 32 HP:0002072
4 abnormality of movement 56 Very frequent (99-80%)
5 anxiety 32 HP:0000739
6 motor delay 32 HP:0001270

UMLS symptoms related to Chorea, Hereditary Benign:


ataxia, athetosis, clonus, dystonia, muscular fasciculation, myoclonus, spasm, tremor, other symptoms involving nervous and musculoskeletal systems, synkinesis, abnormal head movements, recurrent muscle twitches (symptom)

MGI Mouse Phenotypes related to Chorea, Hereditary Benign:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 8.8 ADCY5 FRRS1L NKX2-1

Drugs & Therapeutics for Chorea, Hereditary Benign

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

Cochrane evidence based reviews: chorea

Genetic Tests for Chorea, Hereditary Benign

Genetic tests related to Chorea, Hereditary Benign:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea 29 24 NKX2-1
2 Chorea, Benign Familial 29

Anatomical Context for Chorea, Hereditary Benign

MalaCards organs/tissues related to Chorea, Hereditary Benign:

39
Lung, Thyroid

Publications for Chorea, Hereditary Benign

Variations for Chorea, Hereditary Benign

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

66
id 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, Hereditary Benign:

6
id 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.713G> T (p.Trp238Leu) single nucleotide variant Pathogenic rs28936672 GRCh37 Chromosome 14, 36986976: 36986976
4 NKX2-1 NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs) deletion Pathogenic rs387906404 GRCh37 Chromosome 14, 36986781: 36986781
5 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> T single nucleotide variant Pathogenic rs587776708 GRCh37 Chromosome 14, 36987227: 36987227
6 NKX2-1 NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs137852694 GRCh37 Chromosome 14, 36986944: 36986944
7 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
8 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
9 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
10 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676

Expression for Chorea, Hereditary Benign

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

Pathways for Chorea, Hereditary Benign

GO Terms for Chorea, Hereditary Benign

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

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

Sources for Chorea, Hereditary Benign

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MeSH
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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