MCID: PRK100
MIFTS: 23

Parkinson Disease 23, Autosomal Recessive Early-Onset

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Metabolic 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 75
Park23 57 75
Parkinson Disease, Type 23, Autosomal Recessive, Early Onset 40
Autosomal Recessive Early-Onset Parkinson's Disease 23 12
Autosomal Recessive Early-Onset Parkinson Disease 23 12

Characteristics:

OMIM:

57
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:

32
parkinson disease 23, autosomal recessive early-onset:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 23, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 75 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 brain, and related phenotypes are dementia and spasticity

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)

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.

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysautonomia
rigidity
dementia
parkinsonism
akinesia
more
Genitourinary Bladder:
incontinence


Clinical features from OMIM:

616840

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 spasticity 32 occasional (7.5%) HP:0001257
3 mental deterioration 32 very rare (1%) HP:0001268
4 parkinsonism 32 HP:0001300
5 hyperreflexia 32 occasional (7.5%) HP:0001347
6 rigidity 32 very rare (1%) HP:0002063
7 cerebral cortical atrophy 32 HP:0002120
8 neurofibrillary tangles 32 HP:0002185
9 akinesia 32 HP:0002304
10 resting tremor 32 HP:0002322
11 limb dystonia 32 very rare (1%) HP:0002451
12 dysautonomia 32 very rare (1%) HP:0002459
13 abnormal pyramidal signs 32 HP:0007256
14 lewy bodies 32 HP:0100315

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:

41
Brain

Publications for Parkinson Disease 23, Autosomal Recessive Early-Onset

Variations for Parkinson Disease 23, Autosomal Recessive Early-Onset

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

75
# Symbol AA change Variation ID SNP ID
1 VPS13C p.Gly1389Arg VAR_076363 rs369100678

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13C NM_020821.2(VPS13C): c.9568G> T (p.Glu3190Ter) single nucleotide variant Pathogenic rs869312810 GRCh37 Chromosome 15, 62174851: 62174851
2 VPS13C NM_020821.2(VPS13C): c.9568G> T (p.Glu3190Ter) single nucleotide variant Pathogenic rs869312810 GRCh38 Chromosome 15, 61882652: 61882652
3 VPS13C NM_020821.2(VPS13C): c.8445+2T> G single nucleotide variant Pathogenic rs869312809 GRCh37 Chromosome 15, 62207830: 62207830
4 VPS13C NM_020821.2(VPS13C): c.8445+2T> G single nucleotide variant Pathogenic rs869312809 GRCh38 Chromosome 15, 61915631: 61915631
5 VPS13C NM_020821.2(VPS13C): c.4777delC (p.Gln1593Lysfs) deletion Pathogenic rs869312811 GRCh37 Chromosome 15, 62239491: 62239491
6 VPS13C NM_020821.2(VPS13C): c.4777delC (p.Gln1593Lysfs) deletion Pathogenic rs869312811 GRCh38 Chromosome 15, 61947292: 61947292
7 VPS13C NM_020821.2(VPS13C): c.4165G> C (p.Gly1389Arg) single nucleotide variant Pathogenic rs369100678 GRCh37 Chromosome 15, 62250807: 62250807
8 VPS13C NM_020821.2(VPS13C): c.4165G> C (p.Gly1389Arg) single nucleotide variant Pathogenic rs369100678 GRCh38 Chromosome 15, 61958608: 61958608
9 VPS13C NM_020821.2(VPS13C): c.802_805dupCAGA (p.Arg269Thrfs) duplication Pathogenic rs869320761 GRCh38 Chromosome 15, 62013059: 62013062
10 VPS13C NM_020821.2(VPS13C): c.802_805dupCAGA (p.Arg269Thrfs) duplication Pathogenic rs869320761 GRCh37 Chromosome 15, 62305258: 62305261

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

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74 UMLS via Orphanet
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