MCID: CHR423
MIFTS: 31

Chorea, Hereditary Benign malady

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

Aliases & Classifications for Chorea, Hereditary Benign

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 51 69 12
Benign Hereditary Chorea 47 24 67
Hereditary Benign Chorea 53 26
Benign Familial Chorea 53 26
Chorea 38 67
 
Bhc 24 69
Hereditary Chorea Without Dementia 69
Chorea Benign Hereditary 49
Chorea, Benign Familial 67
Chorea Familial Benign 47

Characteristics:

Orphanet epidemiological data:

53
hereditary benign chorea:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

63
chorea, hereditary benign:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, phenotypic variability
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 118700
Orphanet53 ORPHA1429
UMLS via Orphanet68 C0393584
ICD10 via Orphanet30 G25.5
MedGen36 C0393584
MeSH38 D002819

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:47 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 chorea, and has symptoms including gait disturbance, anxiety and dysarthria. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid and lung, and related mouse phenotype behavior/neurological.

UniProtKB/Swiss-Prot:69 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:70 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

Description from OMIM:51 118700

Related Diseases for Chorea, Hereditary Benign

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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

Human phenotypes related to Chorea, Hereditary Benign:

 63 53 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
2 anxiety63 HP:0000739
3 dysarthria63 HP:0001260
4 motor delay63 HP:0001270
5 chorea63 HP:0002072
6 abnormality of movement53 Very frequent (99-80%)

UMLS symptoms related to Chorea, Hereditary Benign:


rapid onset of sudden, jerky involuntary movements, head movements abnormal, oral choreiform movement, involuntary movements, synkinesis, other symptoms involving nervous and musculoskeletal systems, hypokinesia, tremor, spasm, myoclonus, muscular fasciculation, dystonia, clonus, athetosis, ataxia

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 Chorea26 24 NKX2-1
2 Chorea, Benign Familial26

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

35
Thyroid, Lung

Animal Models for Chorea, Hereditary Benign or affiliated genes

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MGI Mouse Phenotypes related to Chorea, Hereditary Benign:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5ADCY5, FRRS1L, NKX2-1

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:

69
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)SNVPathogenicrs878853280GRCh37Chr 9, 111899809: 111899809
2FRRS1LNM_014334.2(FRRS1L): c.845G> A (p.Trp282Ter)SNVPathogenicrs878853281GRCh38Chr 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
5NKX2-1NC_000014.8deletionPathogenicGRCh37Chr 14, 36407609: 37670256
6NKX2-1NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser)SNVPathogenicrs28936671GRCh37Chr 14, 36986962: 36986962
7NKX2-1NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu)SNVPathogenicrs28936672GRCh37Chr 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> TSNVPathogenicrs587776708GRCh37Chr 14, 36987227: 36987227
10NKX2-1NM_001079668.2(NKX2-1): c.745C> T (p.Gln249Ter)SNVPathogenicrs137852694GRCh37Chr 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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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:00076269.3ADCY5, NKX2-1

Sources for Chorea, Hereditary Benign

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet