MCID: CHR423
MIFTS: 32

Chorea, Hereditary Benign malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Chorea, Hereditary Benign

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NIH Rare Diseases:43 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:47 118700

Aliases & Classifications for Chorea, Hereditary Benign

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chorea, Hereditary Benign, Aliases & Descriptions:

Name: Chorea, Hereditary Benign 47 11
Hereditary Benign Chorea 43 22 49
Chorea Benign Hereditary 45 24
Benign Familial Chorea 43 49
 
Chorea, Benign Hereditary 47
Benign Hereditary Chorea 43
Chorea Familial Benign 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM47 118700
Orphanet49 1429
ICD10 via Orphanet28 G25.5
UMLS via Orphanet63 C0393584

Related Diseases for Chorea, Hereditary Benign

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

idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.4
2dystonia10.4
3hypothyroidism10.3
4myoclonus10.3
5cerebritis10.2
6thyroiditis10.2
7ataxia10.2
8ovarian small cell carcinoma10.0TTF1
9pulmonary blastoma10.0NKX2-1

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:

 49
  • 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 Chorea22 24 NKX2-1

Anatomical Context for Chorea, Hereditary Benign

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MalaCards organs/tissues related to Chorea, Hereditary Benign:

33
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:

64
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Clinvar genetic disease variations for Chorea, Hereditary Benign:

7
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/GeneDecks:

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

Molecular functions related to Chorea, Hereditary Benign according to GeneCards/GeneDecks:

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

Products for genes affiliated with Chorea, Hereditary Benign

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Sources for Chorea, Hereditary Benign

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet