LOPD
MCID: HRD173
MIFTS: 35

Hereditary Late-Onset Parkinson Disease (LOPD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Late-Onset Parkinson Disease

MalaCards integrated aliases for Hereditary Late-Onset Parkinson Disease:

Name: Hereditary Late-Onset Parkinson Disease 59
Autosomal Dominant Late-Onset Parkinson Disease 59
Lopd 59

Characteristics:

Orphanet epidemiological data:

59
hereditary late-onset parkinson disease
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Hereditary Late-Onset Parkinson Disease

MalaCards based summary : Hereditary Late-Onset Parkinson Disease, also known as autosomal dominant late-onset parkinson disease, is related to parkinson disease 10 and parkinson disease 3, autosomal dominant. An important gene associated with Hereditary Late-Onset Parkinson Disease is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13), and among its related pathways/superpathways is Parkinsons Disease Pathway. Related phenotypes are diplopia and depressivity

Related Diseases for Hereditary Late-Onset Parkinson Disease

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Hereditary Late-Onset Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 10 10.0 LRRK2 SNCA
2 parkinson disease 3, autosomal dominant 10.0 LRRK2 SNCA
3 postencephalitic parkinson disease 10.0 LRRK2 SNCA
4 rem sleep behavior disorder 10.0 LRRK2 SNCA
5 corticobasal degeneration 10.0 GBA LRRK2
6 parkinson disease 2, autosomal recessive juvenile 10.0 LRRK2 SNCA
7 multiple system atrophy 1 9.9 LRRK2 SNCA
8 essential tremor 9.9 DNAJC13 LRRK2 SNCA
9 supranuclear palsy, progressive, 1 9.9 LRRK2 SNCA
10 early-onset parkinson's disease 9.8 GBA LRRK2 SNCA
11 movement disease 9.8 GBA LRRK2 SNCA
12 synucleinopathy 9.8 GBA LRRK2 SNCA
13 dementia 9.8 GBA LRRK2 SNCA
14 dementia, lewy body 9.8 GBA LRRK2 SNCA
15 gaucher's disease 9.8 GBA SNCA
16 tremor 9.7 DNAJC13 GBA LRRK2 SNCA
17 parkinson disease, late-onset 9.0 DNAJC13 EIF4G1 GBA GIGYF2 LRRK2 SNCA

Graphical network of the top 20 diseases related to Hereditary Late-Onset Parkinson Disease:



Diseases related to Hereditary Late-Onset Parkinson Disease

Symptoms & Phenotypes for Hereditary Late-Onset Parkinson Disease

Human phenotypes related to Hereditary Late-Onset Parkinson Disease:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
5 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
6 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
7 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
8 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
9 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
10 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
11 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
12 dementia 59 32 very rare (1%) Very rare (<4-1%) HP:0000726
13 schizophrenia 59 32 very rare (1%) Very rare (<4-1%) HP:0100753
14 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
15 shuffling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002362
16 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
17 hyposmia 59 32 frequent (33%) Frequent (79-30%) HP:0004409
18 impulsivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100710
19 orthostatic hypotension due to autonomic dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0004926
20 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
21 hypomimic face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000338
22 postural instability 59 32 occasional (7.5%) Occasional (29-5%) HP:0002172
23 visual hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002367
24 monotonic speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0031435
25 lewy bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0100315
26 parkinsonism with favorable response to dopaminergic medication 59 32 frequent (33%) Frequent (79-30%) HP:0002548
27 gliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002171
28 akinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002304
29 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
30 chronic constipation 59 32 frequent (33%) Frequent (79-30%) HP:0012450
31 low frustration tolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0000744
32 spastic/hyperactive bladder 59 32 frequent (33%) Frequent (79-30%) HP:0005340
33 mental deterioration 59 Occasional (29-5%)
34 parkinsonism 59 Obligate (100%)

MGI Mouse Phenotypes related to Hereditary Late-Onset Parkinson Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 EIF4G1 LRRK2 SNCA VPS35
2 normal MP:0002873 9.02 EIF4G1 GBA LRRK2 SNCA VPS35

Drugs & Therapeutics for Hereditary Late-Onset Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Hereditary Late-Onset Parkinson Disease

Genetic Tests for Hereditary Late-Onset Parkinson Disease

Anatomical Context for Hereditary Late-Onset Parkinson Disease

Publications for Hereditary Late-Onset Parkinson Disease

Variations for Hereditary Late-Onset Parkinson Disease

Expression for Hereditary Late-Onset Parkinson Disease

Search GEO for disease gene expression data for Hereditary Late-Onset Parkinson Disease.

Pathways for Hereditary Late-Onset Parkinson Disease

Pathways related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.55 LRRK2 SNCA

GO Terms for Hereditary Late-Onset Parkinson Disease

Cellular components related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.98 DNAJC13 EIF4G1 GBA GIGYF2 LRRK2 SNCA
2 cytosol GO:0005829 9.93 DNAJC13 EIF4G1 GIGYF2 LRRK2 SNCA VPS35
3 neuronal cell body GO:0043025 9.54 LRRK2 SNCA VPS35
4 lysosomal membrane GO:0005765 9.43 DNAJC13 GBA VPS35
5 synaptic vesicle membrane GO:0030672 9.4 LRRK2 SNCA
6 terminal bouton GO:0043195 9.32 LRRK2 SNCA
7 endosome GO:0005768 9.26 DNAJC13 GIGYF2 LRRK2 VPS35
8 inclusion body GO:0016234 9.16 LRRK2 SNCA
9 lysosome GO:0005764 8.92 GBA LRRK2 SNCA VPS35

Biological processes related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.6 GBA VPS35
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.59 LRRK2 VPS35
3 cellular response to oxidative stress GO:0034599 9.58 LRRK2 SNCA
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.58 EIF4G1 SNCA
5 negative regulation of protein phosphorylation GO:0001933 9.57 LRRK2 SNCA
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.56 GBA LRRK2
7 excitatory postsynaptic potential GO:0060079 9.55 LRRK2 SNCA
8 cellular response to starvation GO:0009267 9.54 GBA LRRK2
9 mitochondrion organization GO:0007005 9.54 EIF4G1 GBA LRRK2
10 regulation of macroautophagy GO:0016241 9.52 GBA VPS35
11 adult locomotory behavior GO:0008344 9.51 GIGYF2 SNCA
12 protein destabilization GO:0031648 9.49 SNCA VPS35
13 lysosome organization GO:0007040 9.48 LRRK2 VPS35
14 regulation of neuron death GO:1901214 9.46 LRRK2 SNCA
15 regulation of locomotion GO:0040012 9.43 LRRK2 SNCA
16 negative regulation of protein homooligomerization GO:0032463 9.4 GBA VPS35
17 regulation of cellular protein metabolic process GO:0032268 9.32 GBA VPS35
18 positive regulation of dopamine receptor signaling pathway GO:0060161 9.26 LRRK2 VPS35
19 negative regulation of late endosome to lysosome transport GO:1902823 9.16 LRRK2 VPS35
20 regulation of presynapse assembly GO:1905606 9.13 EIF4G1 SNCA VPS35
21 negative regulation of neuron death GO:1901215 9.02 EIF4G1 GBA LRRK2 SNCA VPS35

Sources for Hereditary Late-Onset Parkinson Disease

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
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