MCID: PRK027
MIFTS: 43

Parkinson Disease 15, Autosomal Recessive malady

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

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

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Aliases & Descriptions for Parkinson Disease 15, Autosomal Recessive:

Name: Parkinson Disease 15, Autosomal Recessive 50 12 66
Pallidopyramidal Syndrome 11 46 52 68
Parkinsonian-Pyramidal Syndrome 11 52 68
Autosomal Recessive Early-Onset Parkinson Disease 15 11 13
Parkinson Disease 15 68 25
Park15 11 68
 
Parkinson Disease 15 Autosomal Recessive 68
Pallido-Pyramidal Syndrome 68
Pallido-Pyramidal Disease 46
Pkps 68
Pps 68

Characteristics:

Orphanet epidemiological data:

52
pallidopyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult

HPO:

62
parkinson disease 15, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression, young adult onset


Classifications:



External Ids:

OMIM50 260300
Disease Ontology11 DOID:0060372
Orphanet52 ORPHA171695
ICD10 via Orphanet29 G20
MedGen35 C1850100
MeSH37 D020734

Summaries for Parkinson Disease 15, Autosomal Recessive

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UniProtKB/Swiss-Prot:68 Parkinson disease 15: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia.

MalaCards based summary: Parkinson Disease 15, Autosomal Recessive, also known as pallidopyramidal syndrome, is related to popliteal pterygium syndrome 1 and fbxo7-related parkinson disease, and has symptoms including muscle rigidity, muscle rigidity and tremor. An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-Box Protein 7), and among its related pathways are Chks in Checkpoint Regulation and Parkinsons Disease Pathway. Affiliated tissues include eye, and related mouse phenotypes are cellular and behavior/neurological.

Disease Ontology:11 A parkinson's disease caused by mutation in the fbxo7 gene located on chromosome 22q12.3.

Description from OMIM:50 260300

Related Diseases for Parkinson Disease 15, Autosomal Recessive

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Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 8
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
parkinson disease 15, autosomal recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Lrrk2-Related Parkinson Disease
Parkinson Disease Type 3 Parkinson Disease Type 9
Dnajc6-Related Parkinson Disease Eif4g1-Related Parkinson Disease
Gigyf2-Related Parkinson Disease Pla2g6-Related Parkinson Disease
Synj1-Related Parkinson Disease Fbxo7-Related Parkinson Disease
Htra2-Related Parkinson Disease Park7-Related Parkinson Disease
Snca-Related Parkinson Disease Vps35-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease Parkinson Disease 22
Parkinson Disease 23, Autosomal Recessive, Early Onset

Diseases related to Parkinson Disease 15, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1popliteal pterygium syndrome 111.5
2fbxo7-related parkinson disease11.2
3popliteal pterygium syndrome 2, lethal type10.9
4normokalemic periodic paralysis10.9
5postpoliomyelitis syndrome10.3
6graves disease 110.2PLA2G6, SNCA
7pancreatitis10.2
8irf6-related disorders10.2
9hereditary elliptocytosis10.1PANK2, PLA2G6
10epileptic hemiplegia10.1PARK2, SNCA
11blepharospasm10.1
12hypotrichosis 710.1PARK2, SNCA
13adult brain stem glioma10.1PANK2, SNCA
14whiplash10.0PARK2, SNCA
15morbid obesity and spermatogenic failure10.0PANK2, SNCA
16inclusion body myositis10.0
17myositis10.0
18cerebritis9.9
19pellagra9.9
20parkinson disease 19.9PARK2, SNCA
21pick disease9.9PARK2, SNCA
22breast cancer9.8
23hydrocephalus9.8
24walker-warburg syndrome9.8
25kidney cancer9.8
26neuronitis9.8
27psoriasis9.8
28pustular psoriasis9.8
29corneal endothelial dystrophy 2, autosomal recessive9.8PANK2, PLA2G6, SNCA
30nonsyndromic disorders of testicular development9.8ATP13A2, PANK2, PLA2G6
31essential tremor9.8PARK2, SNCA
32tinea unguium9.7ATP13A2, PARK2, SNCA
33cerebral amyloid angiopathy9.7
34sorsby fundus dystrophy9.7
35syngnathia9.7
36acne9.7
37end stage renal failure9.7
38exocrine pancreatic insufficiency9.7
39synucleinopathy9.7
40myelomeningocele9.7
41asbestosis9.7
42sarcoma9.7
43diabetic autonomic neuropathy9.7
44autonomic neuropathy9.7
45dementia9.7
46gout9.7
47uterine fibroid9.7
48aggressive periodontitis9.7
49cholera9.7
50panniculitis9.7

Graphical network of the top 20 diseases related to Parkinson Disease 15, Autosomal Recessive:



Diseases related to parkinson disease 15, autosomal recessive

Symptoms for Parkinson Disease 15, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

260300

Clinical features from OMIM:

260300

HPO human phenotypes related to Parkinson Disease 15, Autosomal Recessive:

(show all 14)
id Description Frequency HPO Source Accession
1 slow saccadic eye movements HP:0000514
2 dysarthria HP:0001260
3 dystonia HP:0001332
4 tremor HP:0001337
5 hyperreflexia HP:0001347
6 talipes equinovarus HP:0001762
7 lower limb spasticity HP:0002061
8 rigidity HP:0002063
9 bradykinesia HP:0002067
10 abnormality of extrapyramidal motor function HP:0002071
11 postural instability HP:0002172
12 parkinsonism with favorable response to dopaminergic medication HP:0002548
13 babinski sign HP:0003487
14 scissor gait HP:0012407

UMLS symptoms related to Parkinson Disease 15, Autosomal Recessive:


muscle rigidity, tremor, bradykinesia, pyramidal sign, extrapyramidal sign

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
2Clinical, Molecular and by Neuroimaging of LRRK2 MutationsRecruitingNCT01085227

Search NIH Clinical Center for Parkinson Disease 15, Autosomal Recessive

Genetic Tests for Parkinson Disease 15, Autosomal Recessive

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Genetic tests related to Parkinson Disease 15, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Parkinson Disease 1525

Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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MalaCards organs/tissues related to Parkinson Disease 15, Autosomal Recessive:

34
Eye

Animal Models for Parkinson Disease 15, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Parkinson Disease 15, Autosomal Recessive:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053846.9ATP13A2, PANK2, PARK2, PARK7, PLA2G6, SNCA
2MP:00053866.7ATP13A2, PANK2, PARK2, PARK7, PLA2G6, SNCA
3MP:00036316.4ATP13A2, PANK2, PARK2, PARK7, PLA2G6, SNCA

Publications for Parkinson Disease 15, Autosomal Recessive

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Variations for Parkinson Disease 15, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 15, Autosomal Recessive:

68
id Symbol AA change Variation ID SNP ID
1FBXO7p.Arg378GlyVAR_047938rs71799110

Clinvar genetic disease variations for Parkinson Disease 15, Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FBXO7NM_012179.3(FBXO7): c.1132C> G (p.Arg378Gly)single nucleotide variantPathogenicrs71799110GRCh37Chr 22, 32889256: 32889256
2FBXO7NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter)single nucleotide variantPathogenicrs121918304GRCh37Chr 22, 32894440: 32894440
3FBXO7NM_012179.3(FBXO7): c.1144+1G> Tsingle nucleotide variantPathogenicrs730880272GRCh37Chr 22, 32889269: 32889269
4FBXO7NM_012179.3(FBXO7): c.65C> T (p.Thr22Met)single nucleotide variantPathogenicrs121918305GRCh37Chr 22, 32871054: 32871054

Expression for genes affiliated with Parkinson Disease 15, Autosomal Recessive

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Search GEO for disease gene expression data for Parkinson Disease 15, Autosomal Recessive.

Pathways for genes affiliated with Parkinson Disease 15, Autosomal Recessive

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Pathways related to Parkinson Disease 15, Autosomal Recessive according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.7PARK2, PARK7, SNCA
28.7PARK2, PARK7, SNCA
38.7PARK2, PARK7, SNCA
48.2ATP13A2, PARK2, PARK7, SNCA

GO Terms for genes affiliated with Parkinson Disease 15, Autosomal Recessive

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Cellular components related to Parkinson Disease 15, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.1PARK7, SNCA
2mitochondrial intermembrane spaceGO:00057589.7PANK2, PARK7
3presynapseGO:00987939.3PARK2, PARK7
4neuron projectionGO:00430058.9ATP13A2, PARK2, PARK7
5axonGO:00304248.9PARK7, SNCA, SPG11
6mitochondrionGO:00057397.3FBXO7, PANK2, PARK2, PARK7, PLA2G6, SNCA
7cytosolGO:00058297.0FBXO7, PANK2, PARK2, PARK7, PLA2G6, SNCA
8cytoplasmGO:00057376.5FBXO7, PANK2, PARK2, PARK7, PLA2G6, SNCA

Biological processes related to Parkinson Disease 15, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1mitophagyGO:000042210.0FBXO7, PARK2
2zinc ion homeostasisGO:005506910.0ATP13A2, PARK2
3cellular response to manganese ionGO:007128710.0ATP13A2, PARK2
4regulation of reactive oxygen species metabolic processGO:20003779.9PARK2, SNCA
5protein destabilizationGO:00316489.9PARK2, SNCA
6synaptic vesicle transportGO:00484899.8SNCA, SPG11
7regulation of mitochondrion organizationGO:00108219.8ATP13A2, PARK2
8regulation of mitophagyGO:19031469.8ATP13A2, PARK2
9response to endoplasmic reticulum stressGO:00349769.7PARK2, PLA2G6
10negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:19033779.7PARK2, PARK7
11negative regulation of oxidative stress-induced cell deathGO:19032029.7PARK2, PARK7
12regulation of dopamine secretionGO:00140599.7PARK2, SNCA
13positive regulation of peptidyl-serine phosphorylationGO:00331389.6PARK7, SNCA
14negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:19022369.5PARK2, PARK7
15regulation of neurotransmitter secretionGO:00469289.5PARK2, SNCA
16negative regulation of cell deathGO:00605489.5PARK2, PARK7
17mitochondrion organizationGO:00070059.4PARK2, PARK7
18dopamine uptake involved in synaptic transmissionGO:00515839.3PARK2, PARK7, SNCA
19cellular response to oxidative stressGO:00345999.2ATP13A2, PARK7, SNCA
20dopamine metabolic processGO:00424179.2PARK2, SNCA
21regulation of mitochondrial membrane potentialGO:00518819.0PANK2, PARK2, PARK7
22negative regulation of neuron apoptotic processGO:00435249.0PARK2, PARK7, SNCA
23negative regulation of protein phosphorylationGO:00019339.0PARK2, PARK7, SNCA
24synaptic transmission, dopaminergicGO:00019638.7PARK2, PARK7, SNCA
25negative regulation of neuron deathGO:19012158.7ATP13A2, PARK2, PARK7, SNCA
26adult locomotory behaviorGO:00083448.6PARK2, PARK7, SNCA

Molecular functions related to Parkinson Disease 15, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cupric ion bindingGO:19031359.8ATP13A2, PARK7
2phospholipase bindingGO:00432749.7PARK2, SNCA
3copper ion bindingGO:00055079.6PARK7, SNCA
4ubiquitin-specific protease bindingGO:19903819.3PARK2, PARK7
5protein kinase bindingGO:00199019.1FBXO7, PARK2, PLA2G6
6enzyme bindingGO:00198998.4PARK2, PARK7, SNCA

Sources for Parkinson Disease 15, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet