PRKAR1B-related neurodegenerative dementia with intermediate filaments
MONDO:0018475Mondo
Findings
No curated finding names PRKAR1B-related neurodegenerative dementia with intermediate filaments yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DementiaHPOHP:0000726
- Obligate (100% of cases)
- Abnormal neuron morphologyHPOHP:0012757
- Very frequent (80% to 99% of cases)
- Frontotemporal dementiaHPOHP:0002145
- Very frequent (80% to 99% of cases)
- Inappropriate behaviorHPOHP:0000719
- Very frequent (80% to 99% of cases)
- Memory impairmentHPOHP:0002354
- Very frequent (80% to 99% of cases)
- Motor deteriorationHPOHP:0002333
- Very frequent (80% to 99% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophyHPOHP:0002506
- Frequent (30% to 79% of cases)
- FallsHPOHP:0002527
- Frequent (30% to 79% of cases)
- Impaired visuospatial constructive cognitionHPOHP:0010794
- Frequent (30% to 79% of cases)
Reported absent (2)
- Motor neuron atrophyHPOHP:0007373
- Spinocerebellar tract degenerationHPOHP:0002503
Show the remaining 9
- InertiaHPOHP:0030216
- Frequent (30% to 79% of cases)
- Language impairmentHPOHP:0002463
- Frequent (30% to 79% of cases)
- Muscle stiffnessHPOHP:0003552
- Frequent (30% to 79% of cases)
- ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
- Postural instabilityHPOHP:0002172
- Frequent (30% to 79% of cases)
- Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRKAR1BHGNC:9390
- Supportive · Orphanet · Autosomal dominant · 2021