MCID: PRK068
MIFTS: 12

Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

MalaCards integrated aliases for Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments:

Name: Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments 58

Characteristics:

Orphanet epidemiological data:

58
prkar1b-related neurodegenerative dementia with intermediate filaments
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

MalaCards based summary : Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments An important gene associated with Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments is PRKAR1B (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta). Related phenotypes are motor deterioration and memory impairment

Related Diseases for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Symptoms & Phenotypes for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Human phenotypes related to Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
2 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
3 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
4 inappropriate behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000719
5 abnormal neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012757
6 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
7 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
8 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
9 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
10 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
11 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
12 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
13 inertia 58 31 frequent (33%) Frequent (79-30%) HP:0030216
14 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
15 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
16 diffuse cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002506
17 short stepped shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0007311
18 impaired visuospatial constructive cognition 58 31 frequent (33%) Frequent (79-30%) HP:0010794
19 frontotemporal cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006892
20 dementia 58 Obligate (100%)
21 spinocerebellar tract degeneration 58 Excluded (0%)
22 shuffling gait 58 Frequent (79-30%)
23 motor neuron atrophy 58 Excluded (0%)

Drugs & Therapeutics for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Search Clinical Trials , NIH Clinical Center for Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments

Genetic Tests for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Anatomical Context for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Publications for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Variations for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Expression for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Search GEO for disease gene expression data for Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments.

Pathways for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

GO Terms for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

Sources for Prkar1b-Related Neurodegenerative Dementia with Intermediate...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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