MCID: CHR423
MIFTS: 29

Chorea, Hereditary Benign malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Chorea, Hereditary Benign

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Chorea, Hereditary Benign:

Name: Chorea, Hereditary Benign 46 9
Hereditary Benign Chorea 42 20 48
Benign Hereditary Chorea 42 61
Chorea Benign Hereditary 44 22
 
Benign Familial Chorea 42 48
Chorea, Benign Hereditary 46
Chorea, Benign Familial 61
Chorea Familial Benign 42


Classifications:



External Ids:

OMIM46 118700
Orphanet48 1429
ICD10 via Orphanet26 G25.5
UMLS via Orphanet62 C0393584

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:42 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 hereditary benign chorea, is related to neuronitis and dystonia, and has symptoms including gait disturbance, autosomal dominant inheritance and anxiety. An important gene associated with Chorea, Hereditary Benign is NKX2-1 (NK2 homeobox 1). Affiliated tissues include lung and thyroid.

Description from OMIM:46 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:

idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.4
2dystonia10.4
3hypothyroidism10.3
4myoclonus10.3
5cerebritis10.2
6thyroiditis10.2
7ataxia10.2
8ovarian small cell carcinoma10.1TTF1
9pulmonary blastoma10.1NKX2-1

Graphical network of 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:

 48
  • abnormal gait
  • movement disorder

HPO human phenotypes related to Chorea, Hereditary Benign:

(show all 10)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 autosomal dominant inheritance HP:0000006
3 anxiety HP:0000739
4 dysarthria HP:0001260
5 motor delay HP:0001270
6 gait disturbance HP:0001288
7 chorea HP:0002072
8 juvenile onset HP:0003621
9 phenotypic variability HP:0003812
10 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Chorea, Hereditary Benign

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Drug clinical trials:

Search ClinicalTrials for Chorea, Hereditary Benign

Search NIH Clinical Center for Chorea, Hereditary Benign

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 Chorea20 22 NKX2-1

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

31
Lung, Thyroid

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:

63
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Clinvar genetic disease variations for Chorea, Hereditary Benign:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000014.8deletionPathogenicGRCh37Chr 14, 36467609: 37670254
2NKX2-1NM_001079668.2(NKX2-1): c.727C> A (p.Arg243Ser)single nucleotide variantPathogenicrs28936671GRCh37Chr 14, 36986962: 36986962
3NKX2-1NM_001079668.2(NKX2-1): c.713G> T (p.Trp238Leu)single nucleotide variantPathogenicrs28936672GRCh37Chr 14, 36986976: 36986976
4NKX2-1NM_001079668.2(NKX2-1): c.908delG (p.Gly303Valfs)deletionPathogenicrs387906404GRCh37Chr 14, 36986781: 36986781
5NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Tsingle nucleotide variantPathogenicGRCh37Chr 14, 36987227: 36987227
6NKX2-1NM_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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Compounds for genes affiliated with Chorea, Hereditary Benign

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GO Terms for genes affiliated with Chorea, Hereditary Benign

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.1NKX2-1, TTF1

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036779.1NKX2-1, TTF1

Sources for Chorea, Hereditary Benign

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet