PARK11
MCID: PRK094
MIFTS: 25

Parkinson Disease 11, Autosomal Dominant (PARK11)

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

Aliases & Classifications for Parkinson Disease 11, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 11, Autosomal Dominant:

Name: Parkinson Disease 11, Autosomal Dominant 57 70
Parkinson Disease 11 57 72 29 13 6
Parkinson Disease 11, Autosomal Dominant, Susceptibility to 57 72
Park11 57 72
Parkinson Disease, Type 11 39

Characteristics:

HPO:

31
parkinson disease 11, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 607688
OMIM Phenotypic Series 57 PS168600
MeSH 44 D010300
UMLS 70 C1843211

Summaries for Parkinson Disease 11, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Parkinson disease 11: 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 11, Autosomal Dominant, also known as parkinson disease 11, is related to hereditary late-onset parkinson disease and parkinson disease, late-onset. An important gene associated with Parkinson Disease 11, Autosomal Dominant is GIGYF2 (GRB10 Interacting GYF Protein 2). Affiliated tissues include eye and brain, and related phenotypes are rigidity and postural instability

More information from OMIM: 607688 PS168600

Related Diseases for Parkinson Disease 11, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 11, Autosomal Dominant

Human phenotypes related to Parkinson Disease 11, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 rigidity 31 HP:0002063
2 postural instability 31 HP:0002172
3 bradykinesia 31 HP:0002067
4 resting tremor 31 HP:0002322
5 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548

Clinical features from OMIM®:

607688 (Updated 20-May-2021)

Drugs & Therapeutics for Parkinson Disease 11, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 11, Autosomal Dominant

Genetic Tests for Parkinson Disease 11, Autosomal Dominant

Genetic tests related to Parkinson Disease 11, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 11 29 GIGYF2

Anatomical Context for Parkinson Disease 11, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 11, Autosomal Dominant:

40
Eye, Brain

Publications for Parkinson Disease 11, Autosomal Dominant

Articles related to Parkinson Disease 11, Autosomal Dominant:

(show all 15)
# Title Authors PMID Year
1
Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations. 6 57
19449032 2009
2
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. 6 57
19250854 2009
3
Variation in GIGYF2 is not associated with Parkinson disease. 6 57
19279319 2009
4
Lack of replication of association between GIGYF2 variants and Parkinson disease. 57 6
18923002 2009
5
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. 57 6
18358451 2008
6
GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling. 57
19744960 2009
7
High-resolution whole-genome association study of Parkinson disease. 57
16252231 2005
8
PARK11 is not linked with Parkinson's disease in European families. 57
15523496 2005
9
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. 57
12925570 2003
10
Significant linkage of Parkinson disease to chromosome 2q36-37. 57
12638082 2003
11
Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. 57
12058349 2002
12
Asleep Deep Brain Stimulator Placement in the Intraoperative Magnetic Resonance Imaging System Hybrid Operating Suite: 2-Dimensional Operative Video. 61
33294935 2021
13
Biomarkers in Tears and Ocular Surface: A Window for Neurodegenerative Diseases. 61
31658175 2020
14
Balance Confidence and Fear of Falling Avoidance Behavior Are Most Predictive of Falling in Older Adults: Prospective Analysis. 61
26294679 2016
15
Common misdiagnosis of a common neurological disorder: how are we misdiagnosing essential tremor? 61
16908735 2006

Variations for Parkinson Disease 11, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 11, Autosomal Dominant:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GIGYF2 NM_015575.4(GIGYF2):c.2378C>T (p.Ala793Val) SNV Likely pathogenic 216934 rs748538823 GRCh37: 2:233684544-233684544
GRCh38: 2:232819834-232819834
2 GIGYF2 NM_015575.4(GIGYF2):c.167A>G (p.Asn56Ser) SNV risk factor 753 rs72554080 GRCh37: 2:233612450-233612450
GRCh38: 2:232747740-232747740
3 GIGYF2 NM_015575.4(GIGYF2):c.1370A>C (p.Asn457Thr) SNV risk factor 754 rs116074753 GRCh37: 2:233659545-233659545
GRCh38: 2:232794835-232794835
4 GIGYF2 NM_015575.4(GIGYF2):c.1818C>G (p.Asp606Glu) SNV risk factor 755 rs118203903 GRCh37: 2:233674441-233674441
GRCh38: 2:232809731-232809731
5 GIGYF2 NM_015575.4(GIGYF2):c.832A>G (p.Ile278Val) SNV risk factor 756 rs118203904 GRCh37: 2:233655527-233655527
GRCh38: 2:232790817-232790817
6 GIGYF2 NM_015575.4(GIGYF2):c.1262A>G (p.Lys421Arg) SNV risk factor 757 rs115735611 GRCh37: 2:233656136-233656136
GRCh38: 2:232791426-232791426
7 GIGYF2 NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val) SNV Uncertain significance 931848 GRCh37: 2:233684655-233684655
GRCh38: 2:232819945-232819945
8 GIGYF2 NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala) SNV Uncertain significance 1030144 GRCh37: 2:233680385-233680385
GRCh38: 2:232815675-232815675
9 GIGYF2 NM_015575.4(GIGYF2):c.3630_3632del (p.Gln1216del) Deletion Likely benign 518338 rs10555297 GRCh37: 2:233712227-233712229
GRCh38: 2:232847517-232847519
10 GIGYF2 NM_015575.4(GIGYF2):c.3461-9G>A SNV Benign 518337 rs2305137 GRCh37: 2:233712049-233712049
GRCh38: 2:232847339-232847339
11 GIGYF2 NM_015575.4(GIGYF2):c.3684+15G>A SNV Benign 518340 rs6437074 GRCh37: 2:233712296-233712296
GRCh38: 2:232847586-232847586
12 GIGYF2 NM_015575.4(GIGYF2):c.3651G>A (p.Pro1217=) SNV Benign 518339 rs12328151 GRCh37: 2:233712248-233712248
GRCh38: 2:232847538-232847538
13 GIGYF2 NM_015575.4(GIGYF2):c.2940A>G (p.Gln980=) SNV Benign 518336 rs3816334 GRCh37: 2:233708806-233708806
GRCh38: 2:232844096-232844096
14 GIGYF2 NM_015575.4(GIGYF2):c.1554G>A (p.Glu518=) SNV Benign 522283 rs2305138 GRCh37: 2:233660846-233660846
GRCh38: 2:232796136-232796136
15 GIGYF2 NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) Insertion Benign 402899 rs371622656 GRCh37: 2:233712226-233712227
GRCh38: 2:232847515-232847516

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 11, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 GIGYF2 p.Thr112Ala VAR_044440 rs117168875
2 GIGYF2 p.Ile278Val VAR_044441 rs118203904
3 GIGYF2 p.Ser335Thr VAR_044442 rs776898936
4 GIGYF2 p.Asp606Glu VAR_044445 rs118203903
5 GIGYF2 p.Val1242Ile VAR_044449 rs769022021
6 GIGYF2 p.Arg589Gly VAR_077945

Expression for Parkinson Disease 11, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 11, Autosomal Dominant.

Pathways for Parkinson Disease 11, Autosomal Dominant

GO Terms for Parkinson Disease 11, Autosomal Dominant

Sources for Parkinson Disease 11, Autosomal Dominant

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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