PARK23
MCID: PRK100
MIFTS: 26

Parkinson Disease 23, Autosomal Recessive Early-Onset (PARK23)

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

Aliases & Classifications for Parkinson Disease 23, Autosomal Recessive Early-Onset

MalaCards integrated aliases for Parkinson Disease 23, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 23, Autosomal Recessive Early-Onset 57 29 6
Parkinson Disease 23, Autosomal Recessive, Early Onset 57 72
Park23 57 72
Parkinson Disease, Type 23, Autosomal Recessive, Early Onset 39
Autosomal Recessive Early-Onset Parkinson's Disease 23 12
Autosomal Recessive Early-Onset Parkinson Disease 23 12
Parkinson's Disease 23 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
young-adult onset
initially responsive to levodopa, but response is lost later in disease course
patients may become bedridden after several decades
three unrelated patients have been reported (last curated march 2016)


HPO:

31
parkinson disease 23, autosomal recessive early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Parkinson Disease 23, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 72 Parkinson disease 23, autosomal recessive, early onset: An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 23, Autosomal Recessive Early-Onset, is also known as parkinson disease 23, autosomal recessive, early onset. An important gene associated with Parkinson Disease 23, Autosomal Recessive Early-Onset is VPS13C (Vacuolar Protein Sorting 13 Homolog C). Affiliated tissues include eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 An early-onset Parkinson disease that has material basis in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.

OMIM® : 57 Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016). (616840) (Updated 20-May-2021)

Symptoms & Phenotypes for Parkinson Disease 23, Autosomal Recessive Early-Onset

Human phenotypes related to Parkinson Disease 23, Autosomal Recessive Early-Onset:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 hyperreflexia 31 occasional (7.5%) HP:0001347
3 mental deterioration 31 very rare (1%) HP:0001268
4 rigidity 31 very rare (1%) HP:0002063
5 limb dystonia 31 very rare (1%) HP:0002451
6 abnormal autonomic nervous system physiology 31 very rare (1%) HP:0012332
7 abnormal pyramidal sign 31 HP:0007256
8 cerebral cortical atrophy 31 HP:0002120
9 dementia 31 HP:0000726
10 akinesia 31 HP:0002304
11 parkinsonism 31 HP:0001300
12 resting tremor 31 HP:0002322
13 neurofibrillary tangles 31 HP:0002185
14 lewy bodies 31 HP:0100315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysautonomia
rigidity
dementia
akinesia
parkinsonism
more
Genitourinary Bladder:
urinary incontinence

Clinical features from OMIM®:

616840 (Updated 20-May-2021)

Drugs & Therapeutics for Parkinson Disease 23, Autosomal Recessive Early-Onset

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 23, Autosomal Recessive Early-Onset

Genetic Tests for Parkinson Disease 23, Autosomal Recessive Early-Onset

Genetic tests related to Parkinson Disease 23, Autosomal Recessive Early-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 23, Autosomal Recessive Early-Onset 29 VPS13C

Anatomical Context for Parkinson Disease 23, Autosomal Recessive Early-Onset

MalaCards organs/tissues related to Parkinson Disease 23, Autosomal Recessive Early-Onset:

40
Eye

Publications for Parkinson Disease 23, Autosomal Recessive Early-Onset

Articles related to Parkinson Disease 23, Autosomal Recessive Early-Onset:

# Title Authors PMID Year
1
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 6 57
26942284 2016
2
Possible role of glial cell line-derived neurotrophic factor for predicting cognitive impairment in Parkinson's disease: a case-control study. 61
33229724 2021
3
Visual self-motion cues are impaired yet overweighted during visual-vestibular integration in Parkinson's disease. 61
32954293 2020
4
Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease. 61
27330973 2016
5
Dopamine transporter imaging in autopsy-confirmed Parkinson's disease and multiple system atrophy. 61
22102521 2012
6
Binding of [99mTc]TRODAT-1 to dopamine transporters in patients with Parkinson's disease and in healthy volunteers. 61
10768556 2000
7
Disordered axial movement in Parkinson's disease. 61
8971118 1996
8
Autonomic dysfunction in Parkinson's disease, tested with a computerized method using a Finapres device. 61
7620298 1995
9
[Bromocriptin in the treatment of progressive stages of Parkinson's disease (author's transl)]. 61
6799266 1982
10
Cardiovascular effects of levodopa in aged versus younger patients with Parkinson's disease. 61
1254882 1976

Variations for Parkinson Disease 23, Autosomal Recessive Early-Onset

ClinVar genetic disease variations for Parkinson Disease 23, Autosomal Recessive Early-Onset:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS13C NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) SNV Pathogenic 982938 GRCh37: 15:62300861-62300861
GRCh38: 15:62008662-62008662
2 VPS13C NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) SNV Pathogenic 1028694 GRCh37: 15:62299678-62299678
GRCh38: 15:62007479-62007479
3 VPS13C NM_020821.3(VPS13C):c.459dup (p.Lys154Ter) Duplication Pathogenic 1028695 GRCh37: 15:62316033-62316034
GRCh38: 15:62023834-62023835
4 VPS13C NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) Duplication Pathogenic 224604 rs869320761 GRCh37: 15:62305257-62305258
GRCh38: 15:62013058-62013059
5 VPS13C NM_020821.3(VPS13C):c.514+2T>C SNV Pathogenic 1032864 GRCh37: 15:62315977-62315977
GRCh38: 15:62023778-62023778
6 VPS13C NM_020821.3(VPS13C):c.624+5_624+8del Microsatellite Pathogenic 1032865 GRCh37: 15:62315602-62315605
GRCh38: 15:62023403-62023406
7 VPS13C NM_020821.3(VPS13C):c.7382dup (p.Asn2461fs) Duplication Pathogenic 1032866 GRCh37: 15:62212360-62212361
GRCh38: 15:61920161-61920162
8 VPS13C NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) SNV Pathogenic 222069 rs869312810 GRCh37: 15:62174851-62174851
GRCh38: 15:61882652-61882652
9 VPS13C NM_020821.3(VPS13C):c.8445+2T>G SNV Pathogenic 222067 rs869312809 GRCh37: 15:62207830-62207830
GRCh38: 15:61915631-61915631
10 VPS13C NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) SNV Pathogenic 222070 rs369100678 GRCh37: 15:62250807-62250807
GRCh38: 15:61958608-61958608
11 VPS13C NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) Deletion Pathogenic 222071 rs869312811 GRCh37: 15:62239491-62239491
GRCh38: 15:61947292-61947292
12 VPS13C NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) SNV Pathogenic 870544 GRCh37: 15:62148607-62148607
GRCh38: 15:61856408-61856408
13 VPS13C NM_020821.3(VPS13C):c.1483+1G>A SNV Likely pathogenic 1030583 GRCh37: 15:62283871-62283871
GRCh38: 15:61991672-61991672
14 VPS13C NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met) SNV Uncertain significance 1030584 GRCh37: 15:62212469-62212469
GRCh38: 15:61920270-61920270
15 VPS13C NM_020821.3(VPS13C):c.387C>T (p.Gly129=) SNV Uncertain significance 547944 rs139665824 GRCh37: 15:62320618-62320618
GRCh38: 15:62028419-62028419
16 VPS13C NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln) SNV Uncertain significance 599078 rs778287890 GRCh37: 15:62199548-62199548
GRCh38: 15:61907349-61907349
17 VPS13C NM_020821.3(VPS13C):c.1409G>A (p.Arg470His) SNV Uncertain significance 1029636 GRCh37: 15:62283946-62283946
GRCh38: 15:61991747-61991747

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 23, Autosomal Recessive Early-Onset:

72
# Symbol AA change Variation ID SNP ID
1 VPS13C p.Gly1389Arg VAR_076363 rs369100678

Expression for Parkinson Disease 23, Autosomal Recessive Early-Onset

Search GEO for disease gene expression data for Parkinson Disease 23, Autosomal Recessive Early-Onset.

Pathways for Parkinson Disease 23, Autosomal Recessive Early-Onset

GO Terms for Parkinson Disease 23, Autosomal Recessive Early-Onset

Sources for Parkinson Disease 23, Autosomal Recessive Early-Onset

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....