PRKAR1B-related neurodegenerative dementia with intermediate filaments
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PRKAR1B-related neurodegenerative dementia with intermediate filaments | |
| fr | Démence neurodégénérative avec filaments intermédiaires associée à PRKAR1B | |
| de | PRKAR1B-assoziierte neurodegenerative Demenz mit Intermediärfilamenten | |
| es | Demencia neurodegenerativa asociada a PRKAR1B con filamentos intermedios | |
| it | Demenza neurodegenerativa PRKAR1B-correlata con filamenti intermedi | |
| nl | PRKAR1B-gerelateerde neurodegeneratieve dementie met intermediaire filamenten | |
| pt | Demência neurodegenerativa com filamentos intermédios PRKAR1B-relacionada | |
| pl | Demencja neurodegeneracyjna związana z PRKAR1B z filamentami pośrednimi | |
| cs | PRKAR1B-vázaná neurodegenerativní demence s intermediárními filamenty | |
| uk | PRKAR1B-повязана нейродегенеративна деменція з помірно вираженими філаментами | |
| zh | PRKAR1B相关神经退行性痴呆伴 | |
| tr | Orta filamentli PRKAR1B-ilişkili nörodejeneratif demans |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0018475 | E | validated | |
| UMLS | C4751505 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKAR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:9390 | ENSG00000188191 | 176911 | 7p22.3 | protein kinase cAMP-dependent type I regulatory subunit beta | 24722252[PMID]_25108559[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 24722252[PMID]_25108559[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24722252[PMID]_25108559[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
23 annotations · validated 2017-07-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000726 | Dementia | |
| Very frequent (99-80%) | ||
| HP:0012757 | Abnormal neuron morphology | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0000719 | Inappropriate behavior | |
| HP:0002354 | Memory impairment | |
| HP:0002333 | Motor deterioration | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0002067 | Bradykinesia | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0002527 | Falls | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0030216 | Inertia | |
| HP:0002463 | Language impairment | |
| HP:0003552 | Muscle stiffness | |
| HP:0001300 | Parkinsonism | |
| HP:0002172 | Postural instability | |
| HP:0000736 | Short attention span | |
| HP:0007311 | Short stepped shuffling gait | |
| HP:0002362 | Shuffling gait | |
| Occasional (29-5%) | ||
| HP:0006892 | Frontotemporal cerebral atrophy | |
| Excluded (0%) | ||
| HP:0007373 | Motor neuron atrophy | |
| HP:0002503 | Spinocerebellar tract degeneration | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24722252[PMID]_25414037[PMID]_25108559[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412066
- This record as JSON: /data/d/412066.json