Chorea, Benign Hereditary (BHC)

Alias:
Benign Hereditary Chorea
Bhc
Chorea, Hereditary Benign
Benign Familial Chorea
Hereditary Progressive Chorea Without Dementia
Hereditary Chorea Without Dementia
Chorea, Hereditary, Benign
Chorea Benign Hereditary
Chorea, Benign Familial
Bche Deficiency
Bch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chorea, Benign Hereditary, also known as benign hereditary chorea, is related to choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction and nkx2-1-related disorders. An important gene associated with Chorea, Benign Hereditary is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include lung and thyroid, and related phenotypes are gait disturbance and abnormality of movement
Related ID:
MESH:D002819
ICD11:829618737

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
--
3
30
80

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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