MCID: CHR423
MIFTS: 35

Chorea, Hereditary Benign malady

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

Aliases & Classifications for Chorea, Hereditary Benign

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Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 12diseasecard, 37MeSH, 46NIH Rare Diseases, 23GeneTests, 66UMLS, 52Orphanet, 25GTR, 48Novoseek, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 50 68 12
Benign Hereditary Chorea 46 23 66
Hereditary Benign Chorea 52 25
Benign Familial Chorea 52 25
Bhc 23 68
 
Hereditary Chorea Without Dementia 68
Chorea Benign Hereditary 48
Chorea, Benign Familial 66
Chorea Familial Benign 46
Chorea 37

Characteristics:

Orphanet epidemiological data:

52
hereditary benign chorea:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
chorea, hereditary benign:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 118700
Orphanet52 ORPHA1429
ICD10 via Orphanet29 G25.5
UMLS via Orphanet67 C0393584
MedGen35 C0393584
MeSH37 D002819

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:46 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 choreoathetosis, hypothyroidism, and neonatal respiratory distress and sydenham's chorea, and has symptoms including gait disturbance, anxiety and dysarthria. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 Homeobox 1), and among its related pathways is Insulin secretion. Affiliated tissues include thyroid and lung.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 118700

Related Diseases for Chorea, Hereditary Benign

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

(show top 50)    (show all 177)
idRelated DiseaseScoreTop Affiliating Genes
1choreoathetosis, hypothyroidism, and neonatal respiratory distress27.9ADCY5, NKX2-1, NMTC1, TTF1
2sydenham's chorea12.4
3chorea gravidarum12.2
4chorea minor12.2
5morvan's fibrillary chorea12.0
6chorea and dementia12.0
7chorea, remitting with nystagmus and cataracts11.9
8huntington disease11.9
9choreatic disease11.8
10choreoacanthocytosis11.7
11pontocerebellar hypoplasia, type 2e11.2
12saint vitus dance11.2
133-methylglutaconic aciduria, type iii11.0
14optic atrophy 3 with cataract11.0
15dentatorubro-pallidoluysian atrophy10.8
16neuropathy, hereditary sensory and autonomic, type ii10.8
17dystonia10.3
18neuronitis10.2
19loiasis10.2
20lupus erythematosus10.2
21rheumatic fever10.1
22dementia10.1
23cerebritis10.1
24systemic lupus erythematosus10.1
25moyamoya disease10.0
26encephalitis10.0
27encephalopathy10.0
28obesity10.0
29pandas10.0
30hyperglycemia10.0
31athetosis10.0
32ataxia10.0
33myoclonus10.0
34thyroiditis10.0
35pediculus humanus capitis infestation10.0
36hsd10 disease, atypical type9.9
37pontocerebellar hypoplasia type 2b9.9
38muscular dystrophy, limb-girdle, type 2e9.9
39myopathy with extrapyramidal signs9.9
40episodic kinesigenic dyskinesia 19.9
41pontocerebellar hypoplasia type 2a9.9
42neurodegeneration with brain iron accumulation 39.9
43pontocerebellar hypoplasia type 2c9.9
44hydrocephalus9.9
45motor neuron disease9.9
46diabetic ketoacidosis9.9
47antiphospholipid syndrome9.9
48hyperthyroidism9.9
49polycythemia9.9
50graves' disease9.9

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



Diseases related to chorea, hereditary benign

Symptoms for Chorea, Hereditary Benign

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Symptoms by clinical synopsis from OMIM:

118700

Clinical features from OMIM:

118700

Symptoms:

 52
  • gait disturbance
  • abnormality of movement

HPO human phenotypes related to Chorea, Hereditary Benign:

(show all 6)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 anxiety HP:0000739
3 dysarthria HP:0001260
4 motor delay HP:0001270
5 gait disturbance HP:0001288
6 chorea HP:0002072

Drugs & Therapeutics for Chorea, Hereditary Benign

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chorea, Hereditary Benign


Cochrane evidence based reviews: chorea

Genetic Tests for Chorea, Hereditary Benign

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Genetic tests related to Chorea, Hereditary Benign:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea25 23 NKX2-1
2 Chorea, Benign Familial25

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

34
Thyroid, Lung

Animal Models for Chorea, Hereditary Benign or affiliated genes

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Publications for Chorea, Hereditary Benign

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Variations for Chorea, Hereditary Benign

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

68
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671
3NKX2-1p.Gln172HisVAR_075209
4NKX2-1p.Trp208SerVAR_075210

Clinvar genetic disease variations for Chorea, Hereditary Benign:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FRRS1LNM_014334.2(FRRS1L): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs878853280GRCh37Chr 9, 111899809: 111899809
2FRRS1LNM_014334.2(FRRS1L): c.845G> A (p.Trp282Ter)single nucleotide variantPathogenicrs878853281GRCh38Chr 9, 109141360: 109141360
3FRRS1LNM_014334.2(FRRS1L): c.737_739delGAG (p.Gly246del)deletionPathogenicrs878853282GRCh38Chr 9, 109141466: 109141468
4FRRS1LNM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs)duplicationPathogenicrs878853283GRCh38Chr 9, 109149676: 109149676
5NC_000014.8deletionPathogenicGRCh37Chr 14, 36407609: 37670256
6NKX2-1NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser)single nucleotide variantPathogenicrs28936671GRCh37Chr 14, 36986962: 36986962
7NKX2-1NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu)single nucleotide variantPathogenicrs28936672GRCh37Chr 14, 36986976: 36986976
8NKX2-1NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs)deletionPathogenicrs387906404GRCh37Chr 14, 36986781: 36986781
9NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Tsingle nucleotide variantPathogenicrs587776708GRCh37Chr 14, 36987227: 36987227
10NKX2-1NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs137852694GRCh37Chr 14, 36986944: 36986944

Expression for genes affiliated with Chorea, Hereditary Benign

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

Pathways for genes affiliated with Chorea, Hereditary Benign

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3ADCY5, TTF1

GO Terms for genes affiliated with Chorea, Hereditary Benign

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

idNameGO IDScoreTop Affiliating Genes
1locomotory behaviorGO:00076269.4ADCY5, NKX2-1

Molecular functions related to Chorea, Hereditary Benign according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.3NKX2-1, TTF1

Sources for Chorea, Hereditary Benign

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet