MCID: BNG046
MIFTS: 39

Benign Hereditary Chorea malady

Neuronal diseases, Genetic diseases categories

Summaries for Benign Hereditary Chorea

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46OMIM, 32MalaCards
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MalaCards: Benign Hereditary Chorea, also known as chorea, hereditary benign, is related to myoclonus-dystonia and hypothyroidism, and has symptoms including abnormal gaitand movement disorder. An important gene associated with Benign Hereditary Chorea is NKX2-1 (NK2 homeobox 1), and among its related pathways are Insulin secretion and TSH signaling pathway. The compounds sodium iodide and iodide have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Description from OMIM:46 118700,215450

Aliases & Classifications for Benign Hereditary Chorea

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Sources:
20GeneTests, 22GTR, 60UMLS, 46OMIM, 44Novoseek, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

benign hereditary chorea 20 22 60
chorea, hereditary benign 46
chorea benign hereditary 44
hereditary benign chorea 48
chorea, benign familial 60
benign familial chorea 48


External Ids:

SNOMED-CT via Orphanet57 230306001
ICD10 via Orphanet26 G25.5

Related Diseases for Benign Hereditary Chorea

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Benign Hereditary Chorea:



Diseases related to benign hereditary chorea

Clinical Features for Benign Hereditary Chorea

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46OMIM, 48Orphanet
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Clinical features from OMIM:

118700,215450

Clinical synopsis from OMIM:

118700

Symptoms:

48
  • abnormal gait
  • movement disorder

Drugs & Therapeutics for Benign Hereditary Chorea

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Benign Hereditary Chorea

Drug clinical trials:

Search ClinicalTrials for Benign Hereditary Chorea

Search NIH Clinical Center for Benign Hereditary Chorea

Search CenterWatch for Benign Hereditary Chorea

Genetic Tests for Benign Hereditary Chorea

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20GeneTests, 22GTR
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Genetic tests related to Benign Hereditary Chorea:

id Genetic test Affiliating Genes
1 Benign Hereditary Chorea20 22 NKX2-1

Anatomical Context for Benign Hereditary Chorea

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Animal Models for Benign Hereditary Chorea or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Benign Hereditary Chorea:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4PAX8, PAX9, HTT
2MP:00053798.3HTT, NKX2-1, PAX9, PAX8
3MP:00053898.3PAX8, PAX9, NKX2-1, HTT
4MP:00053908.2HTT, NKX2-1, PAX9, PAX8
5MP:00036317.7PAX8, SGCE, GEMIN2, NKX2-1, HTT

Publications for Benign Hereditary Chorea

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Genetic Variations for Benign Hereditary Chorea

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Benign Hereditary Chorea:

62
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Trp208LeuVAR_015188rs28936672
2NKX2-1p.Arg213SerVAR_015189rs28936671

Expression for genes affiliated with Benign Hereditary Chorea

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Benign Hereditary Chorea

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Pathways for genes affiliated with Benign Hereditary Chorea

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Sources:
29KEGG, 37NCBI BioSystems Database
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Pathways related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5PAX8, TTF1
29.5PAX8, TTF1

Compounds for genes affiliated with Benign Hereditary Chorea

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
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Compounds related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium iodide449.6PAX8, NKX2-1
2iodide44 2410.5PAX8, NKX2-1
3oligonucleotide448.8PAX8, NKX2-1, HTT
4forskolin44 49 1110.5HTT, NKX2-1, PAX8

GO Terms for genes affiliated with Benign Hereditary Chorea

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Sources:
16Gene Ontology
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Cellular components related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.3PAX8, TTF1, GEMIN2, NKX2-1
2nucleusGO:0056347.4NKX2-1, GEMIN2, TTF1, PAX9, PAX8, HTT

Biological processes related to Benign Hereditary Chorea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thyroid gland developmentGO:0308789.5PAX8, NKX2-1
2endoderm developmentGO:0074929.3PAX9, NKX2-1
3locomotory behaviorGO:0076269.3NKX2-1, HTT

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.7PAX8, PAX9, TTF1, NKX2-1

Products for genes affiliated with Benign Hereditary Chorea

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  • Antibodies
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Sources for Benign Hereditary Chorea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet