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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 52 70 12
Benign Hereditary Chorea 48 24 68
Hereditary Benign Chorea 54 27
Benign Familial Chorea 54 27
Chorea 39 68
 
Bhc 24 70
Hereditary Chorea Without Dementia 70
Chorea Benign Hereditary 50
Chorea, Benign Familial 68
Chorea Familial Benign 48

Characteristics:

Orphanet epidemiological data:

54
hereditary benign chorea:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
chorea, hereditary benign:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, phenotypic variability
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 118700
Orphanet54 ORPHA1429
UMLS via Orphanet69 C0393584
ICD10 via Orphanet31 G25.5
MedGen37 C0393584
MeSH39 D002819

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:48 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:70 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:52 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 & Phenotypes 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:

 64 54 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance64 54 hallmark (90%) Very frequent (99-80%) HP:0001288
2 anxiety64 HP:0000739
3 dysarthria64 HP:0001260
4 motor delay64 HP:0001270
5 chorea64 HP:0002072
6 abnormality of movement54 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

MGI Mouse Phenotypes related to Chorea, Hereditary Benign according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5ADCY5, FRRS1L, NKX2-1

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 Chorea27 24 NKX2-1
2 Chorea, Benign Familial27

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

36
Thyroid, Lung

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet