Details of Disease

General Information of Disease (ID: DISIB1GX)

Disease Name PRKAR1B-related neurodegenerative dementia with intermediate filaments
Disease Hierarchy
DISFWL8F: Hereditary dementia
DISPN7D2: Inherited neurodegenerative disorder
DISIB1GX: PRKAR1B-related neurodegenerative dementia with intermediate filaments
Disease Identifiers
MONDO ID
MONDO_0018475
UMLS CUI
C4751505
MedGen ID
1654800
Orphanet ID
412066
SNOMED CT ID
774069007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKAR1B OT777OHS Supportive Autosomal dominant [1]
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References

1 PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9.