PRKAR1B-related neurodegenerative dementia with intermediate filaments

PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.



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Total: 0 (papers)

  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000726 Dementia Obligate (100%)
HP:0000719 Inappropriate behavior Very frequent (99-80%)
HP:0002145 Frontotemporal dementia Very frequent (99-80%)
HP:0002333 Motor deterioration Very frequent (99-80%)
HP:0002354 Memory impairment Very frequent (99-80%)
HP:0012757 Abnormal neuron morphology Very frequent (99-80%)
HP:0000736 Short attention span Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000741 Apathy Frequent (79-30%)
HP:0001300 Parkinsonism Frequent (79-30%)
HP:0002067 Bradykinesia Frequent (79-30%)
HP:0002172 Postural instability Frequent (79-30%)
HP:0002362 Shuffling gait Frequent (79-30%)
HP:0002463 Language impairment Frequent (79-30%)
HP:0002506 Diffuse cerebral atrophy Frequent (79-30%)
HP:0002527 Falls Frequent (79-30%)
HP:0003552 Muscle stiffness Frequent (79-30%)
HP:0007311 Short stepped shuffling gait Frequent (79-30%)
HP:0010794 Impaired visuospatial constructive cognition Frequent (79-30%)
HP:0030216 Inertia Frequent (79-30%)
HP:0006892 Frontotemporal cerebral atrophy Occasional (29-5%)
HP:0002503 Spinocerebellar tract degeneration Excluded (0%)
HP:0007373 Motor neuron atrophy Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta 5575