MCID: PRK068
MIFTS: 13

Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments

Categories: Neuronal diseases, Rare diseases, Mental 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 59

Characteristics:

Orphanet epidemiological data:

59
prkar1b-related neurodegenerative dementia with intermediate filaments
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 59  
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 inappropriate behavior and frontotemporal dementia

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inappropriate behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000719
2 frontotemporal dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002145
3 motor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002333
4 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
5 abnormal neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012757
6 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
7 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
8 apathy 59 32 frequent (33%) Frequent (79-30%) HP:0000741
9 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
10 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
11 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
12 language impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002463
13 diffuse cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002506
14 falls 59 32 frequent (33%) Frequent (79-30%) HP:0002527
15 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
16 short stepped shuffling gait 59 32 frequent (33%) Frequent (79-30%) HP:0007311
17 impaired visuospatial constructive cognition 59 32 frequent (33%) Frequent (79-30%) HP:0010794
18 inertia 59 32 frequent (33%) Frequent (79-30%) HP:0030216
19 frontotemporal cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006892
20 dementia 59 Obligate (100%)
21 shuffling gait 59 Frequent (79-30%)
22 spinocerebellar tract degeneration 59 Excluded (0%)
23 motor neuron atrophy 59 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....