Parkinson Disease 1, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PARK1 MCID: PRK085 MIFTS: 49	Parkinson Disease 1, Autosomal Dominant (PARK1) Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Parkinson Disease 1, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 1, Autosomal Dominant:

Name: Parkinson Disease 1, Autosomal Dominant ⁵⁷ ⁷² ⁷⁰

Parkinson Disease 1 ⁵⁷ ²⁹ ¹³ ⁶

Atypical Parkinson Disease ⁷² ⁷⁰

Parkinson's Disease 1 ¹² ¹⁵

Park1 ⁵⁷ ⁷²

Parkinson Disease 1, Autosomal Dominant Lewy Body ⁵⁷

Autosomal Dominant Parkinson's Disease 1 ¹²

Autosomal Dominant Parkinson Disease 1 ¹²

Parkinson Disease Autosomal Dominant 1 ⁷²

Parkinson Disease, Familial, Type 1 ⁷⁰

Parkinson Disease Familial Type 1 ⁷²

Parkinson Disease, Type 1 ³⁹

Lewy Body Parkinsonism ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Miscellaneous:
insidious onset
progressive disorder
onset mid to late adulthood
levodopa-responsive

Inheritance:
autosomal dominant

HPO:

³¹

parkinson disease 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive insidious onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060367

OMIM® ⁵⁷ 168601

OMIM Phenotypic Series ⁵⁷ PS168600

MeSH ⁴⁴ D010300

MedGen ⁴¹ C1868595 C1868596 C3149705

UMLS ⁷⁰ C1868595 C1868596 C3489791

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Summaries for Parkinson Disease 1, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷² Parkinson disease 1, autosomal dominant: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease 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. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.

MalaCards based summary : Parkinson Disease 1, Autosomal Dominant, also known as parkinson disease 1, is related to kufor-rakeb syndrome and multiple system atrophy 1, and has symptoms including myoclonus, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 1, Autosomal Dominant is SNCA (Synuclein Alpha), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include brain, and related phenotypes are sleep disturbance and depressivity

Disease Ontology : ¹² A late onset Parkinson's disease that has material basis in mutation in the alpha-synuclein gene on chromosome 4q22.1.

OMIM® : ⁵⁷ Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600. (168601) (Updated 05-Apr-2021)

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Related Diseases for Parkinson Disease 1, Autosomal Dominant

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant	Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12	Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant	Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10	Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant	Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive	Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant	Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant	Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset	Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant	Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease	Early-Onset Parkinson's Disease
Vps35-Related Parkinson Disease	Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)

#	Related Disease	Score	Top Affiliating Genes
1	kufor-rakeb syndrome	31.7	SNCA PRKN LRRK2 GBA ATP13A2
2	multiple system atrophy 1	30.7	SQSTM1 SNCA PRKN MAPT MAP2 LRRK2
3	hereditary late-onset parkinson disease	30.4	SNCA LRRK2 GBA
4	parkinsonism	30.3	SNCA MAPT LRRK2 GBA
5	parkinson disease 3, autosomal dominant	30.1	SNCA PRKN MAPT LRRK2 ATP13A2
6	tremor	30.1	SNCA PRKN LRRK2 GBA
7	mild cognitive impairment	29.8	MAPT CHAT
8	frontotemporal dementia	29.3	SQSTM1 SNCA MAPT LRRK2 GSK3B ATXN2
9	movement disease	28.8	SNCA PRKN MAPT LRRK2 HPRT1 GBA
10	parkinson disease, late-onset	28.7	SQSTM1 SNCA PRKN NEDD4 MAPT MAP2
11	corticobasal degeneration	10.3	MAPT GBA
12	chromosome 17q21.31 duplication syndrome	10.3	SNCA MAPT
13	von economo's disease	10.3	SNCA LRRK2
14	ideomotor apraxia	10.3	SNCA MAPT
15	akinetic mutism	10.3	SNCA MAPT
16	parkinson disease 10	10.3	SNCA PRKN LRRK2
17	color agnosia	10.3	SNCA PRKN LRRK2
18	radial nerve lesion	10.2	PRKN LRRK2
19	juvenile-onset parkinson's disease	10.2	SNCA PRKN ATP13A2
20	parkinson disease 21	10.2	PRKN LRRK2
21	gerstmann-straussler disease	10.2	SNCA MAPT LRRK2
22	coenzyme q10 deficiency, primary, 1	10.2	SNCA MAPT
23	aphasia	10.2	SNCA MAPT LRRK2
24	sleep disorder	10.2	SNCA MAPT LRRK2
25	postencephalitic parkinson disease	10.2	SNCA PRKN MAPT LRRK2
26	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	10.2	SNCA MAPT LRRK2 GBA
27	parkinson disease 15, autosomal recessive early-onset	10.1	SNCA PRKN LRRK2 ATP13A2
28	vasculogenic impotence	10.1	PDE5A PDE4A
29	neurodegeneration with brain iron accumulation	10.1	SNCA PRKN ATP13A2 ACO1
30	mitochondrial complex i deficiency, nuclear type 1	10.1	SNCA PRKN LRRK2 ATP13A2
31	rem sleep behavior disorder	10.1	SNCA PRKN MAPT LRRK2 GBA
32	choreatic disease	10.1	SNCA PRKN ATXN2 ATP13A2
33	cerebellar disease	10.1	SNCA PRKN MAPT ATXN2
34	essential tremor	10.0	SNCA PRKN MAPT LRRK2 GBA
35	early-onset parkinson's disease	10.0	SNCA PRKN LRRK2 GBA ATP13A2
36	parkinson disease 4, autosomal dominant	10.0
37	gaucher's disease	10.0	SNCA PRKN LRRK2 GBA ATP13A2
38	aneurysmal bone cysts	10.0	MAPT GSK3B
39	gaucher disease, type i	10.0	SNCA PRKN LRRK2 GBA ATP13A2
40	ophthalmomyiasis	10.0	PRKN LRRK2 GSK3B
41	alzheimer disease 9	10.0	SNCA MAPT GSK3B
42	scrapie	10.0	SNCA MAPT MAP2 CHAT
43	alzheimer disease 7	10.0	SNCA MAPT
44	prion disease	10.0	SNCA PRKN MAPT MAP2 LRRK2
45	keratoconus	10.0
46	autosomal dominant cerebellar ataxia	10.0	SNCA PRKN MAPT LRRK2 ATXN2
47	restless legs syndrome	10.0	SNCA PRKN MAPT ATXN2 ACO1
48	peripheral nervous system disease	9.9	SNCA PRKN MAPT LRRK2 CHAT
49	leukoencephalopathy, hereditary diffuse, with spheroids	9.9	SNCA PRKN MAPT MAP2 CHAT
50	dysphagia	9.9

Graphical network of the top 20 diseases related to Parkinson Disease 1, Autosomal Dominant:

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Symptoms & Phenotypes for Parkinson Disease 1, Autosomal Dominant

Human phenotypes related to Parkinson Disease 1, Autosomal Dominant:

³¹ (show all 20)

#	Description	HPO Source Accession
1	sleep disturbance ³¹	HP:0002360
2	depressivity ³¹	HP:0000716
3	dysarthria ³¹	HP:0001260
4	dysphagia ³¹	HP:0002015
5	hallucinations ³¹	HP:0000738
6	myoclonus ³¹	HP:0001336
7	mental deterioration ³¹	HP:0001268
8	dystonia ³¹	HP:0001332
9	rigidity ³¹	HP:0002063
10	dementia ³¹	HP:0000726
11	hypokinesia ³¹	HP:0002375
12	postural instability ³¹	HP:0002172
13	urinary urgency ³¹	HP:0000012
14	parkinsonism ³¹	HP:0001300
15	bradykinesia ³¹	HP:0002067
16	gliosis ³¹	HP:0002171
17	shuffling gait ³¹	HP:0002362
18	resting tremor ³¹	HP:0002322
19	lewy bodies ³¹	HP:0100315
20	micrographia ³¹	HP:0031908

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
dysarthria
myoclonus
dystonia
rigidity
hypokinesia
more

Genitourinary Bladder:
urinary urgency

Head And Neck Face:
masked facies

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression

Clinical features from OMIM®:

168601 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 1, Autosomal Dominant:

myoclonus; bradykinesia; resting tremor; sleep disturbances; muscle rigidity; urgency of micturition

MGI Mouse Phenotypes related to Parkinson Disease 1, Autosomal Dominant:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.29	ATP13A2 ATXN2 BECN1 CHAT GBA GSK3B
2	growth/size/body region	MP:0005378	10.22	ATXN2 BECN1 CHAT DIO2 GBA GSK3B
3	homeostasis/metabolism	MP:0005376	10.21	ACO1 ATP13A2 ATXN2 BECN1 CHAT DIO2
4	cardiovascular system	MP:0005385	10.2	ATP13A2 BECN1 CHAT GBA GSK3B HPRT1
5	mortality/aging	MP:0010768	10.2	ACO1 ATXN2 BECN1 CHAT GBA GSK3B
6	nervous system	MP:0003631	10.16	ATP13A2 ATXN2 BECN1 CHAT GBA GSK3B
7	endocrine/exocrine gland	MP:0005379	10.09	ATXN2 BECN1 DIO2 GBA GSK3B HPRT1
8	normal	MP:0002873	9.9	ACO1 BECN1 CHAT GBA GSK3B HPRT1
9	skeleton	MP:0005390	9.65	BECN1 CHAT DIO2 GBA GSK3B HPRT1
10	taste/olfaction	MP:0005394	8.92	HPRT1 MAPT PDE4A SNCA

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Drugs & Therapeutics for Parkinson Disease 1, Autosomal Dominant

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Differential Diagnosis and Prognosis of Idiopathic and Atypical Parkinson Disease by Using Diffusion MRI	Active, not recruiting	NCT04472325

Search NIH Clinical Center for Parkinson Disease 1, Autosomal Dominant

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Genetic Tests for Parkinson Disease 1, Autosomal Dominant

Genetic tests related to Parkinson Disease 1, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Parkinson Disease 1 ²⁹	SNCA

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Anatomical Context for Parkinson Disease 1, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 1, Autosomal Dominant:

⁴⁰

Brain

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Publications for Parkinson Disease 1, Autosomal Dominant

Articles related to Parkinson Disease 1, Autosomal Dominant:

(show top 50) (show all 56)

#	Title	Authors	PMID	Year
1	Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons. ⁵⁷ ⁶	Chung CY...Lindquist S	24158904	2013
2	Yeast reveal a "druggable" Rsp5/Nedd4 network that ameliorates α-synuclein toxicity in neurons. ⁶ ⁵⁷	Tardiff DF...Lindquist S	24158909	2013
3	G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. ⁶ ⁵⁷	Lesage S...French Parkinson's Disease Genetics Study Group	23526723	2013
4	A novel α-synuclein missense mutation in Parkinson disease. ⁶ ⁵⁷	Proukakis C...Schapira AH	23427326	2013
5	First appraisal of brain pathology owing to A30P mutant alpha-synuclein. ⁶ ⁵⁷	Seidel K...Kruger R	20437567	2010
6	A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. ⁵⁷ ⁶	Puschmann A...Nilsson C	19632874	2009
7	Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. ⁵⁷ ⁶	Troiano AR...Brice A	18852449	2008
8	Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. ⁵⁷ ⁶	Brueggemann N...Djarmati A	18852448	2008
9	Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. ⁵⁷ ⁶	Fuchs J...Farrer MJ	17251522	2007
10	Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. ⁶ ⁵⁷	Nishioka K...Hattori N	16358335	2006
11	Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. ⁶ ⁵⁷	Farrer M...Langston JW	14755720	2004
12	Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. ⁶ ⁵⁷	Spira PJ...Nicholson GA	11261505	2001
13	Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. ⁶ ⁵⁷	Polymeropoulos MH...Nussbaum RL	9197268	1997
14	Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson's disease. ⁵⁷	Kam TI...Dawson VL	30385548	2018
15	A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. ⁶	Kara E...Houlden H	25003242	2014
16	The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. ⁶	Khalaf O...Lashuel HA	24936070	2014
17	Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism. ⁶	Perandones C...Micheli FE	24552873	2014
18	Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients. ⁶	Darvish H...Emamalizadeh B	23880019	2013
19	Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease. ⁶	Voutsinas GE...Athanassiadou A	20340137	2010
20	Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. ⁵⁷	Kuo YM...Nussbaum RL	20106867	2010
21	alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. ⁶	Sironi F...Goldwurm S	19833540	2010
22	Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. ⁵⁷	Satake W...Toda T	19915576	2009
23	Genome-wide association study reveals genetic risk underlying Parkinson's disease. ⁵⁷	Simon-Sanchez J...Gasser T	19915575	2009
24	Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. ⁶	Ibanez P...French Parkinson's Disease Genetics Study Group	19139307	2009
25	Central role of alpha-synuclein oligomers in neurodegeneration in Parkinson disease. ⁵⁷	Kazantsev AG...Kolchinsky AM	19064744	2008
26	Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication. ⁶	Uchiyama T...Ohashi T	18852445	2008
27	Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. ⁶	Choi JM...Kim YJ	18704525	2008
28	Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. ⁶	Ikeuchi T...Ishikawa A	18413475	2008
29	Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. ⁶	Obi T...Hattori N	18195271	2008
30	alpha-Synuclein gene duplication is present in sporadic Parkinson disease. ⁶	Ahn TB...Jeon BS	17625105	2008
31	The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. ⁶	Ki CS...Athanassiadou A	17489854	2007
32	Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. ⁶	Chartier-Harlin MC...Destee A	15451224	2004
33	Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. ⁶	Ibanez P...Brice A	15451225	2004
34	alpha-Synuclein locus triplication causes Parkinson's disease. ⁶	Singleton AB...Gwinn-Hardy K	14593171	2003
35	Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease. ⁵⁷	Lotharius J...Brundin P	12351575	2002
36	Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. ⁵⁷	Giasson BI...Lee VM	12062037	2002
37	Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. ⁶	Kruger R...Przuntek H	11376188	2001
38	Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. ⁶	Athanassiadou A...Papapetropoulos T	10417297	1999
39	G209A mutation in the alpha-synuclein gene is rare and not associated with sporadic Parkinson's disease. ⁶	Ho SL...Kung MH	9827625	1998
40	Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). ⁶	Vaughan JR...Wood NW	9499430	1998
41	Low frequency of alpha-synuclein mutations in familial Parkinson's disease. ⁶	Farrer M...Lynch T	9506559	1998
42	Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. ⁶	Kruger R...Riess O	9462735	1998
43	Clinical genetic analysis of Parkinson's disease in the Contursi kindred. ⁵⁷	Golbe LI...Duvoisin RC	8957018	1996
44	Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. ⁵⁷	Polymeropoulos MH...Duvoisin RC	8895469	1996
45	Kindreds of dominantly inherited Parkinson's disease: keys to the riddle. ⁵⁷	Duvoisin RC...Golbe LI	7668819	1995
46	Autosomal dominant parkinsonism with benign course and typical Lewy-body pathology. ⁵⁷	Golbe LI...Duvoisin RC	8232933	1993
47	A large kindred with autosomal dominant Parkinson's disease. ⁵⁷	Golbe LI...Duvoisin RC	2158268	1990
48	Neurologic Comorbidities Predict Proximal Junctional Failure in Adult Spinal Deformity. ⁶¹	Arima H...Carreon LY	30122394	2018
49	Data in support of qPCR primer design and verification in a Pink1 -/- rat model of Parkinson disease. ⁶¹	Kelm-Nelson CA...Ciucci MR	27331115	2016
50	A theory about a role of the hyper direct pathway in pattern expression by the basal ganglia. ⁶¹	Jourdan I...Zanutto BS	21096287	2010

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Genes for Parkinson Disease 1, Autosomal Dominant

Genes related to Parkinson Disease 1, Autosomal Dominant (1 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SNCA	Synuclein Alpha	Protein Coding	1322.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9462735 11376188 20437567 (more) 24158904 24158909
2	GBA	Glucosylceramidase Beta	Protein Coding	5.15	DISEASES inferred ¹⁵
3	LRRK2	Leucine Rich Repeat Kinase 2	Protein Coding	5.01	DISEASES inferred ¹⁵
4	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	4.95	DISEASES inferred ¹⁵
5	MAPT	Microtubule Associated Protein Tau	Protein Coding	4.6	DISEASES inferred ¹⁵
6	ACO1	Aconitase 1	Protein Coding	4.44	DISEASES inferred ¹⁵
7	ATP13A2	ATPase Cation Transporting 13A2	Protein Coding	4.4	DISEASES inferred ¹⁵
8	DIO2	Iodothyronine Deiodinase 2	Protein Coding	4.37	DISEASES inferred ¹⁵
9	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	4.28	DISEASES inferred ¹⁵
10	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	4.24	DISEASES inferred ¹⁵
11	ATXN2	Ataxin 2	Protein Coding	4.22	DISEASES inferred ¹⁵
12	MAP2	Microtubule Associated Protein 2	Protein Coding	4.05	DISEASES inferred ¹⁵
13	PDE4A	Phosphodiesterase 4A	Protein Coding	3.97	DISEASES inferred ¹⁵
14	CHAT	Choline O-Acetyltransferase	Protein Coding	3.93	DISEASES inferred ¹⁵
15	PDE5A	Phosphodiesterase 5A	Protein Coding	3.71	DISEASES inferred ¹⁵
16	MAP1LC3B	Microtubule Associated Protein 1 Light Chain 3 Beta	Protein Coding	3.7	DISEASES inferred ¹⁵
17	SQSTM1	Sequestosome 1	Protein Coding	3.62	DISEASES inferred ¹⁵
18	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	3.55	DISEASES inferred ¹⁵
19	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	3.55	DISEASES inferred ¹⁵
20	BECN1	Beclin 1	Protein Coding	3.26	DISEASES inferred ¹⁵

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Variations for Parkinson Disease 1, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

⁶ (show all 17)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SNCA	NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)	SNV	Pathogenic	14008	rs104893878	GRCh37: 4:90756731-90756731 GRCh38: 4:89835580-89835580
2	SNCA	NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)	SNV	Pathogenic	97000	rs431905511	GRCh37: 4:90749305-90749305 GRCh38: 4:89828154-89828154
3	SNCA	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)	SNV	Pathogenic	14007	rs104893877	GRCh37: 4:90749300-90749300 GRCh38: 4:89828149-89828149
4	SNCA	SNCA, DUPLICATION	Duplication	Pathogenic	14011		GRCh37: GRCh38:
5	SNCA	NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)	SNV	Pathogenic	14007	rs104893877	GRCh37: 4:90749300-90749300 GRCh38: 4:89828149-89828149
6	SNCA	NC_000004.11:g.(?_90647315)_(90756838_?)dup	Duplication	Pathogenic	531846		GRCh37: 4:90647315-90756838 GRCh38: 4:89726164-89835687
7	SNCA	NC_000004.11:g.(?_90647315)_(90756828_?)dup	Duplication	Pathogenic	639372		GRCh37: 4:90647315-90756828 GRCh38: 4:89726164-89835677
8	SNCA	NM_000345.4(SNCA):c.150T>G (p.His50Gln)	SNV	Pathogenic	162095	rs201106962	GRCh37: 4:90749307-90749307 GRCh38: 4:89828156-89828156
9	SNCA	NM_000345.4(SNCA):c.100A>G (p.Lys34Glu)	SNV	Uncertain significance	1003636		GRCh37: 4:90756719-90756719 GRCh38: 4:89835568-89835568
10	SNCA	NM_000345.4(SNCA):c.150T>G (p.His50Gln)	SNV	Uncertain significance	162095	rs201106962	GRCh37: 4:90749307-90749307 GRCh38: 4:89828156-89828156
11	SNCA	NM_000345.4(SNCA):c.47T>C (p.Val16Ala)	SNV	Uncertain significance	1009952		GRCh37: 4:90756772-90756772 GRCh38: 4:89835621-89835621
12	SNCA	NM_000345.4(SNCA):c.*464C>A	SNV	Uncertain significance	1020728		GRCh37: 4:90647315-90647315 GRCh38: 4:89726164-89726164
13	SNCA	NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)	SNV	Uncertain significance	652694	rs145138372	GRCh37: 4:90650386-90650386 GRCh38: 4:89729235-89729235
14	SNCA	NM_000345.4(SNCA):c.147G>A (p.Val49=)	SNV	Likely benign	767542	rs141859659	GRCh37: 4:90749310-90749310 GRCh38: 4:89828159-89828159
15	SNCA	NM_000345.4(SNCA):c.156G>T (p.Val52=)	SNV	Likely benign	772345	rs148108612	GRCh37: 4:90749301-90749301 GRCh38: 4:89828150-89828150
16	SNCA	NM_000345.4(SNCA):c.216G>A (p.Thr72=)	SNV	Likely benign	705925	rs144758871	GRCh37: 4:90743487-90743487 GRCh38: 4:89822336-89822336
17	SNCA	NM_000345.4(SNCA):c.408C>T (p.Tyr136=)	SNV	Benign	350104	rs76642636	GRCh37: 4:90647794-90647794 GRCh38: 4:89726643-89726643

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	SNCA	p.Ala53Thr	VAR_007454	rs104893877
2	SNCA	p.Ala30Pro	VAR_007957	rs104893878
3	SNCA	p.Glu46Lys	VAR_022703	rs104893875
4	SNCA	p.His50Gln	VAR_070171	rs201106962

Sources

Expression for Parkinson Disease 1, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 1, Autosomal Dominant.

Sources

Pathways for Parkinson Disease 1, Autosomal Dominant

Pathways related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	13.1	SQSTM1 SNCA PRKN MAPT LRRK2 GSK3B
2	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	12.52	SNCA PRKN MAPT LRRK2 GSK3B
3	Neuroscience ⁴	11.7	SNCA PRKN MAPT MAP2 LRRK2 GSK3B
4	Senescence and Autophagy in Cancer ¹	11.48	SQSTM1 MAP1LC3B GSK3B BECN1
5	Mitophagy - animal ³⁶	11.38	SQSTM1 PRKN BECN1
6	Parkinsons Disease Pathway ¹	11.18	SNCA PRKN LRRK2 ATXN2
7	Mitophagy ⁶⁵ Show member pathways Pink/Parkin Mediated Mitophagy ⁶⁵	11.1	SQSTM1 PRKN MAP1LC3B

Sources

GO Terms for Parkinson Disease 1, Autosomal Dominant

Cellular components related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.33	SQSTM1 SNCA PRKN PDE4A NEDD4 MAPT
2	Golgi apparatus	GO:0005794	10.01	SNCA PRKN NEDD4 LRRK2 GBA BECN1
3	dendrite	GO:0030425	9.93	MAPT MAP2 LRRK2 GSK3B BECN1
4	lysosome	GO:0005764	9.92	SQSTM1 SNCA LRRK2 GBA ATP13A2
5	neuronal cell body	GO:0043025	9.89	SNCA MAPT MAP2 LRRK2 ATP13A2
6	neuron projection	GO:0043005	9.8	PRKN MAPT MAP2 LRRK2 CHAT ATP13A2
7	trans-Golgi network	GO:0005802	9.78	LRRK2 GBA BECN1 ATXN2
8	mitochondrion	GO:0005739	9.65	SQSTM1 SNCA SDHAF2 PRKN MAPT MAP1LC3B
9	Wnt signalosome	GO:1990909	9.56	LRRK2 GSK3B
10	autolysosome	GO:0044754	9.55	SQSTM1 LRRK2
11	cytosol	GO:0005829	9.55	SQSTM1 SNCA SDHAF2 PRKN PDE5A PDE4A
12	main axon	GO:0044304	9.51	MAPT MAP2
13	autophagosome	GO:0005776	9.46	SQSTM1 MAP1LC3B BECN1 ATP13A2
14	Lewy body	GO:0097413	9.43	SQSTM1 PRKN
15	inclusion body	GO:0016234	9.43	SQSTM1 SNCA LRRK2
16	amphisome	GO:0044753	9.37	SQSTM1 LRRK2

Biological processes related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 46)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to oxidative stress	GO:0034599	9.87	SNCA LRRK2 ATP13A2
2	mitochondrion organization	GO:0007005	9.86	PRKN LRRK2 GBA
3	negative regulation of protein phosphorylation	GO:0001933	9.83	SNCA PRKN LRRK2
4	positive regulation of protein catabolic process	GO:0045732	9.83	PRKN NEDD4 GSK3B
5	regulation of autophagy	GO:0010506	9.82	PRKN MAPT LRRK2
6	cellular response to starvation	GO:0009267	9.82	MAP1LC3B LRRK2 GBA
7	regulation of macroautophagy	GO:0016241	9.81	NEDD4 GBA ATP13A2
8	macroautophagy	GO:0016236	9.81	SQSTM1 PRKN MAP1LC3B BECN1
9	positive regulation of protein binding	GO:0032092	9.8	PRKN LRRK2 GSK3B
10	neuron projection development	GO:0031175	9.8	NEDD4 MAPT MAP2 GSK3B GBA
11	positive regulation of autophagy	GO:0010508	9.79	LRRK2 GSK3B BECN1
12	excitatory postsynaptic potential	GO:0060079	9.78	SNCA LRRK2 GSK3B
13	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	GO:0032436	9.76	PRKN LRRK2 GSK3B GBA
14	lysosome organization	GO:0007040	9.74	LRRK2 GBA BECN1
15	positive regulation of neuron death	GO:1901216	9.73	SNCA MAPT GSK3B
16	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	GO:1902236	9.7	PRKN LRRK2
17	determination of adult lifespan	GO:0008340	9.7	LRRK2 GBA
18	autophagy	GO:0006914	9.7	SQSTM1 PRKN MAP1LC3B LRRK2 GBA BECN1
19	negative regulation of autophagosome assembly	GO:1902902	9.69	LRRK2 BECN1
20	cellular response to dopamine	GO:1903351	9.69	PRKN LRRK2
21	regulation of protein kinase A signaling	GO:0010738	9.68	PDE4A LRRK2
22	supramolecular fiber organization	GO:0097435	9.68	SNCA MAPT
23	receptor catabolic process	GO:0032801	9.68	NEDD4 BECN1
24	negative regulation of microtubule polymerization	GO:0031115	9.67	SNCA MAP2
25	regulation of microtubule polymerization	GO:0031113	9.67	MAPT MAP2
26	striatum development	GO:0021756	9.67	LRRK2 HPRT1
27	regulation of mitochondrion organization	GO:0010821	9.67	SQSTM1 PRKN ATP13A2
28	cellular response to nitrogen starvation	GO:0006995	9.66	MAP1LC3B BECN1
29	synaptic transmission, dopaminergic	GO:0001963	9.66	SNCA PRKN
30	central nervous system neuron development	GO:0021954	9.65	MAPT MAP2 HPRT1
31	regulation of mitochondrial fission	GO:0090140	9.63	MAPT LRRK2
32	intracellular distribution of mitochondria	GO:0048312	9.63	MAPT LRRK2
33	regulation of locomotion	GO:0040012	9.62	SNCA LRRK2
34	autophagy of mitochondrion	GO:0000422	9.62	SQSTM1 PRKN MAP1LC3B BECN1
35	dopamine metabolic process	GO:0042417	9.61	SNCA PRKN HPRT1
36	protein localization to mitochondrion	GO:0070585	9.6	PRKN LRRK2
37	response to mitochondrial depolarisation	GO:0098780	9.59	SQSTM1 BECN1
38	zinc ion homeostasis	GO:0055069	9.58	PRKN ATP13A2
39	dopamine uptake involved in synaptic transmission	GO:0051583	9.58	SNCA PRKN
40	regulation of lysosomal protein catabolic process	GO:1905165	9.55	GBA ATP13A2
41	autophagosome organization	GO:1905037	9.54	GBA ATP13A2
42	cellular response to manganese ion	GO:0071287	9.54	PRKN LRRK2 ATP13A2
43	regulation of synaptic vesicle transport	GO:1902803	9.52	PRKN LRRK2
44	response to iron(II) ion	GO:0010040	9.43	SNCA BECN1 ACO1
45	mitophagy	GO:0000423	9.26	SQSTM1 PRKN MAP1LC3B BECN1
46	negative regulation of neuron death	GO:1901215	9.1	SNCA PRKN LRRK2 GSK3B GBA ATP13A2

Molecular functions related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.43	SQSTM1 SNCA SDHAF2 PRKN PDE5A PDE4A
2	protein kinase binding	GO:0019901	9.77	SQSTM1 PRKN MAPT GSK3B BECN1
3	enzyme binding	GO:0019899	9.72	SQSTM1 SNCA PRKN NEDD4 MAPT
4	ubiquitin binding	GO:0043130	9.58	SQSTM1 PRKN NEDD4
5	microtubule binding	GO:0008017	9.55	SNCA MAPT MAP2 MAP1LC3B LRRK2
6	phospholipase binding	GO:0043274	9.48	SNCA PRKN
7	dynactin binding	GO:0034452	9.43	MAPT GSK3B
8	tau protein binding	GO:0048156	9.43	SNCA MAP2 GSK3B
9	tubulin binding	GO:0015631	9.26	PRKN MAPT MAP2 LRRK2
10	ubiquitin protein ligase binding	GO:0031625	9.1	SQSTM1 PRKN MAP1LC3B GSK3B DIO2 BECN1

Sources

Sources for Parkinson Disease 1, Autosomal Dominant

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Parkinson Disease 1, Autosomal Dominant (PARK1)

Aliases & Classifications for Parkinson Disease 1, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 1, Autosomal Dominant:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Parkinson Disease 1, Autosomal Dominant

Related Diseases for Parkinson Disease 1, Autosomal Dominant

Diseases in the Parkinson Disease, Late-Onset family:

Diseases related to Parkinson Disease 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Parkinson Disease 1, Autosomal Dominant:

Symptoms & Phenotypes for Parkinson Disease 1, Autosomal Dominant

Human phenotypes related to Parkinson Disease 1, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Parkinson Disease 1, Autosomal Dominant:

MGI Mouse Phenotypes related to Parkinson Disease 1, Autosomal Dominant:

Drugs & Therapeutics for Parkinson Disease 1, Autosomal Dominant

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Genetic Tests for Parkinson Disease 1, Autosomal Dominant

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Genes for Parkinson Disease 1, Autosomal Dominant

Genes related to Parkinson Disease 1, Autosomal Dominant (1 elite genes):

Variations for Parkinson Disease 1, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

Expression for Parkinson Disease 1, Autosomal Dominant

Pathways for Parkinson Disease 1, Autosomal Dominant

Pathways related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

GO Terms for Parkinson Disease 1, Autosomal Dominant

Cellular components related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

Molecular functions related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Parkinson Disease 1, Autosomal Dominant