PARK11
MCID: PRK094
MIFTS: 20

Parkinson Disease 11, Autosomal Dominant (PARK11)

Categories: 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 58 74
Parkinson Disease 11 58 76 30 13 6
Parkinson Disease 11, Autosomal Dominant, Susceptibility to 58 76
Park11 58 76
Parkinson Disease, Type 11 41

Characteristics:

HPO:

33
parkinson disease 11, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607688
MeSH 45 D010300
UMLS 74 C1843211

Summaries for Parkinson Disease 11, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 parkinson disease, late-onset. An important gene associated with Parkinson Disease 11, Autosomal Dominant is GIGYF2 (GRB10 Interacting GYF Protein 2). Affiliated tissues include brain, and related phenotypes are rigidity and bradykinesia

Description from OMIM: 607688

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:

33
# Description HPO Frequency HPO Source Accession
1 rigidity 33 HP:0002063
2 bradykinesia 33 HP:0002067
3 postural instability 33 HP:0002172
4 parkinsonism with favorable response to dopaminergic medication 33 HP:0002548
5 resting tremor 33 HP:0002322

Clinical features from OMIM:

607688

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 30

Anatomical Context for Parkinson Disease 11, Autosomal Dominant

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

42
Brain

Publications for Parkinson Disease 11, Autosomal Dominant

Variations for Parkinson Disease 11, Autosomal Dominant

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

76
# 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

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 GIGYF2 NM_001103146.1(GIGYF2): c.2378C> T (p.Ala793Val) single nucleotide variant Likely pathogenic rs748538823 GRCh37 Chromosome 2, 233684544: 233684544
2 GIGYF2 NM_001103146.1(GIGYF2): c.2378C> T (p.Ala793Val) single nucleotide variant Likely pathogenic rs748538823 GRCh38 Chromosome 2, 232819834: 232819834
3 GIGYF2 NM_015575.3(GIGYF2): c.167A> G (p.Asn56Ser) single nucleotide variant risk factor rs72554080 GRCh37 Chromosome 2, 233612450: 233612450
4 GIGYF2 NM_015575.3(GIGYF2): c.167A> G (p.Asn56Ser) single nucleotide variant risk factor rs72554080 GRCh38 Chromosome 2, 232747740: 232747740
5 GIGYF2 NM_015575.3(GIGYF2): c.1370A> C (p.Asn457Thr) single nucleotide variant risk factor rs116074753 GRCh37 Chromosome 2, 233659545: 233659545
6 GIGYF2 NM_015575.3(GIGYF2): c.1370A> C (p.Asn457Thr) single nucleotide variant risk factor rs116074753 GRCh38 Chromosome 2, 232794835: 232794835
7 GIGYF2 NM_015575.3(GIGYF2): c.1818C> G (p.Asp606Glu) single nucleotide variant risk factor rs118203903 GRCh37 Chromosome 2, 233674441: 233674441
8 GIGYF2 NM_015575.3(GIGYF2): c.1818C> G (p.Asp606Glu) single nucleotide variant risk factor rs118203903 GRCh38 Chromosome 2, 232809731: 232809731
9 GIGYF2 NM_015575.3(GIGYF2): c.832A> G (p.Ile278Val) single nucleotide variant risk factor rs118203904 GRCh37 Chromosome 2, 233655527: 233655527
10 GIGYF2 NM_015575.3(GIGYF2): c.832A> G (p.Ile278Val) single nucleotide variant risk factor rs118203904 GRCh38 Chromosome 2, 232790817: 232790817
11 GIGYF2 NM_015575.3(GIGYF2): c.1262A> G (p.Lys421Arg) single nucleotide variant risk factor rs115735611 GRCh37 Chromosome 2, 233656136: 233656136
12 GIGYF2 NM_015575.3(GIGYF2): c.1262A> G (p.Lys421Arg) single nucleotide variant risk factor rs115735611 GRCh38 Chromosome 2, 232791426: 232791426
13 GIGYF2 NM_015575.3(GIGYF2): c.3629_3630insGC (p.Gln1211Hisfs) insertion Benign/Likely benign rs371622656 GRCh37 Chromosome 2, 233712226: 233712227
14 GIGYF2 NM_015575.3(GIGYF2): c.3629_3630insGC (p.Gln1211Hisfs) insertion Benign/Likely benign rs371622656 GRCh38 Chromosome 2, 232847516: 232847517
15 GIGYF2 NM_015575.3(GIGYF2): c.2940A> G (p.Gln980=) single nucleotide variant Benign rs3816334 GRCh37 Chromosome 2, 233708806: 233708806
16 GIGYF2 NM_015575.3(GIGYF2): c.2940A> G (p.Gln980=) single nucleotide variant Benign rs3816334 GRCh38 Chromosome 2, 232844096: 232844096
17 GIGYF2 NM_015575.3(GIGYF2): c.3461-9G> A single nucleotide variant Benign rs2305137 GRCh38 Chromosome 2, 232847339: 232847339
18 GIGYF2 NM_015575.3(GIGYF2): c.3461-9G> A single nucleotide variant Benign rs2305137 GRCh37 Chromosome 2, 233712049: 233712049
19 GIGYF2 NM_015575.3(GIGYF2): c.3630_3632delACA (p.Gln1216del) deletion Likely benign rs10555297 GRCh38 Chromosome 2, 232847517: 232847519
20 GIGYF2 NM_015575.3(GIGYF2): c.3630_3632delACA (p.Gln1216del) deletion Likely benign rs10555297 GRCh37 Chromosome 2, 233712227: 233712229
21 GIGYF2 NM_015575.3(GIGYF2): c.3651G> A (p.Pro1217=) single nucleotide variant Benign rs12328151 GRCh38 Chromosome 2, 232847538: 232847538
22 GIGYF2 NM_015575.3(GIGYF2): c.3651G> A (p.Pro1217=) single nucleotide variant Benign rs12328151 GRCh37 Chromosome 2, 233712248: 233712248
23 GIGYF2 NM_015575.3(GIGYF2): c.3684+15G> A single nucleotide variant Benign rs6437074 GRCh38 Chromosome 2, 232847586: 232847586
24 GIGYF2 NM_015575.3(GIGYF2): c.3684+15G> A single nucleotide variant Benign rs6437074 GRCh37 Chromosome 2, 233712296: 233712296
25 GIGYF2 NM_015575.3(GIGYF2): c.1554G> A (p.Glu518=) single nucleotide variant Benign rs2305138 GRCh38 Chromosome 2, 232796136: 232796136
26 GIGYF2 NM_015575.3(GIGYF2): c.1554G> A (p.Glu518=) single nucleotide variant Benign rs2305138 GRCh37 Chromosome 2, 233660846: 233660846

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

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