General Information of Disease (ID: DISIP0T0)

Disease Name Childhood-onset benign chorea with striatal involvement
Disease Hierarchy
DIS6BW88: Huntington disease-like syndrome
DISOJJ2D: Movement disorder
DISIP0T0: Childhood-onset benign chorea with striatal involvement
Disease Identifiers
MONDO ID
MONDO_0044332
UMLS CUI
C5567463
MedGen ID
1798886
Orphanet ID
494541
SNOMED CT ID
1172602000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE10A TTJW4LU Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE10A OT74EK7Z Supportive Autosomal dominant [1]
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References

1 Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.