PKNPY
MCID: PRK103
MIFTS: 14

Parkinsonism with Polyneuropathy (PKNPY)

Categories: Genetic diseases

Aliases & Classifications for Parkinsonism with Polyneuropathy

MalaCards integrated aliases for Parkinsonism with Polyneuropathy:

Name: Parkinsonism with Polyneuropathy 57 6
Pknpy 57

Characteristics:

OMIM®:

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

Miscellaneous:
levodopa-responsive
anticholinergic-responsive
age of onset 42 to 69 years of age


Classifications:



External Ids:

OMIM® 57 619279

Summaries for Parkinsonism with Polyneuropathy

OMIM® : 57 Parkinsonism with polyneuropathy (PKNPY) is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa (summary by Lin et al., 2020). (619279) (Updated 20-May-2021)

MalaCards based summary : Parkinsonism with Polyneuropathy, also known as pknpy, is related to parkinsonism and polyneuropathy. An important gene associated with Parkinsonism with Polyneuropathy is UQCRC1 (Ubiquinol-Cytochrome C Reductase Core Protein 1). Affiliated tissues include brain.

Related Diseases for Parkinsonism with Polyneuropathy

Diseases related to Parkinsonism with Polyneuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinsonism 9.9
2 polyneuropathy 9.9
3 peripheral nervous system disease 9.9
4 neuropathy 9.9

Symptoms & Phenotypes for Parkinsonism with Polyneuropathy

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression

Neurologic Peripheral Nervous System:
polyneuropathy

Neurologic Central Nervous System:
rigidity
bradykinesia
resting tremor
asymmetry at onset
diffuse atrophy, mild, seen on brain mri

Clinical features from OMIM®:

619279 (Updated 20-May-2021)

Drugs & Therapeutics for Parkinsonism with Polyneuropathy

Search Clinical Trials , NIH Clinical Center for Parkinsonism with Polyneuropathy

Genetic Tests for Parkinsonism with Polyneuropathy

Anatomical Context for Parkinsonism with Polyneuropathy

MalaCards organs/tissues related to Parkinsonism with Polyneuropathy:

40
Brain

Publications for Parkinsonism with Polyneuropathy

Articles related to Parkinsonism with Polyneuropathy:

# Title Authors PMID Year
1
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy. 61 6 57
33141179 2020

Variations for Parkinsonism with Polyneuropathy

ClinVar genetic disease variations for Parkinsonism with Polyneuropathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UQCRC1 NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser) SNV Pathogenic 1064663 GRCh37: 3:48638433-48638433
GRCh38: 3:48601000-48601000
2 UQCRC1 NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu) SNV Pathogenic 1064664 GRCh37: 3:48638443-48638443
GRCh38: 3:48601010-48601010
3 UQCRC1 NM_003365.2:c.73_74insG) in exon 2 Insertion Pathogenic 1064665 GRCh37:
GRCh38:

Expression for Parkinsonism with Polyneuropathy

Search GEO for disease gene expression data for Parkinsonism with Polyneuropathy.

Pathways for Parkinsonism with Polyneuropathy

GO Terms for Parkinsonism with Polyneuropathy

Sources for Parkinsonism with Polyneuropathy

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
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