MCID: PRK027
MIFTS: 44

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 52 12 68
Pallidopyramidal Syndrome 11 48 54 70
Parkinsonian-Pyramidal Syndrome 11 54 70
Autosomal Recessive Early-Onset Parkinson Disease 15 11 13
Parkinson Disease 15 70 27
Parkinson Disease 15 Autosomal Recessive 70
 
Pallido-Pyramidal Syndrome 70
Pallido-Pyramidal Disease 48
Park15 70
Pkps 70
Pps 70

Characteristics:

Orphanet epidemiological data:

54
pallidopyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult

HPO:

64
parkinson disease 15, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression, young adult onset

Classifications:



External Ids:

OMIM52 260300
Disease Ontology11 DOID:0060372
Orphanet54 ORPHA171695
ICD10 via Orphanet31 G20
MedGen37 C1850100
MeSH39 D020734

Summaries for Parkinson Disease 15, Autosomal Recessive

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UniProtKB/Swiss-Prot:70 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 parkinson disease, late-onset and popliteal pterygium syndrome 1, and has symptoms including slow saccadic eye movements, dysarthria and dystonia. An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-Box Protein 7), and among its related pathways are Alpha-synuclein signaling and Parkinsons Disease Pathway. Affiliated tissues include eye, and related mouse phenotypes are homeostasis/metabolism and growth/size/body region.

Disease Ontology:11 A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.

Description from OMIM:52 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 75)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset30.1PARK2, PARK7, PINK1, SNCA
2popliteal pterygium syndrome 111.6
3fbxo7-related parkinson disease11.1
4postpoliomyelitis syndrome11.0
5pellagra10.8
6popliteal pterygium syndrome 2, lethal type10.8
7normokalemic periodic paralysis10.8
8graves disease 110.2PLA2G6, SNCA
9epileptic hemiplegia10.2PARK2, SNCA
10hypotrichosis 710.1PARK2, SNCA
11pancreatitis10.0
12whiplash10.0PARK2, SNCA
13blepharospasm10.0
14essential tremor10.0PARK2, SNCA
15inclusion body myositis9.9
16myositis9.9
17tinea unguium9.8ATP13A2, PARK2, SNCA
18hereditary elliptocytosis9.8PANK2, PLA2G6
19cerebritis9.8
20breast cancer9.7
21hydrocephalus9.7
22kidney cancer9.7
23neuronitis9.7
24psoriasis9.7
25pustular psoriasis9.7
26parkinson disease 19.7PARK2, SNCA
27adult brain stem glioma9.7PANK2, SNCA
28phka2-related phosphorylase kinase deficiency9.7PARK2, PARK7, SNCA
29meier-gorlin syndrome 59.6PARK2, PARK7, SNCA
30morbid obesity and spermatogenic failure9.6PANK2, SNCA
31corneal endothelial dystrophy 2, autosomal recessive9.6PANK2, PLA2G6, SNCA
32nonsyndromic disorders of testicular development9.6ATP13A2, PANK2, PLA2G6
33cerebral amyloid angiopathy9.6
34sorsby fundus dystrophy9.6
35syngnathia9.6
36acne9.6
37end stage renal failure9.6
38exocrine pancreatic insufficiency9.6
39synucleinopathy9.6
40myelomeningocele9.6
41asbestosis9.6
42sarcoma9.6
43diabetic autonomic neuropathy9.6
44autonomic neuropathy9.6
45dementia9.6
46gout9.6
47cholera9.6
48panniculitis9.6
49dermatitis9.6
50syringomyelia9.6

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



Diseases related to parkinson disease 15, autosomal recessive

Symptoms & Phenotypes for Parkinson Disease 15, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

260300

Clinical features from OMIM:

260300

Human phenotypes related to Parkinson Disease 15, Autosomal Recessive:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 slow saccadic eye movements64 HP:0000514
2 dysarthria64 HP:0001260
3 dystonia64 HP:0001332
4 tremor64 HP:0001337
5 hyperreflexia64 HP:0001347
6 talipes equinovarus64 HP:0001762
7 lower limb spasticity64 HP:0002061
8 rigidity64 HP:0002063
9 bradykinesia64 HP:0002067
10 abnormality of extrapyramidal motor function64 HP:0002071
11 postural instability64 HP:0002172
12 parkinsonism with favorable response to dopaminergic medication64 HP:0002548
13 babinski sign64 HP:0003487
14 scissor gait64 HP:0012407

UMLS symptoms related to Parkinson Disease 15, Autosomal Recessive:


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

MGI Mouse Phenotypes related to Parkinson Disease 15, Autosomal Recessive according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7FBXO7, PANK2, PARK2, PARK7, PINK1, PLA2G6
2MP:00053787.6PANK2, PARK2, PARK7, PINK1, PLA2G6, SNCA
3MP:00053867.2ATP13A2, PANK2, PARK2, PARK7, PINK1, PLA2G6
4MP:00053847.2ATP13A2, PANK2, PARK2, PARK7, PINK1, PLA2G6
5MP:00036316.4ATP13A2, PANK2, PARK2, PARK7, PINK1, PLA2G6

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical, Molecular and by Neuroimaging of LRRK2 MutationsUnknown statusNCT01085227
2Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015

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 1527

Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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

36
Eye

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:

70
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)SNVPathogenicrs71799110GRCh37Chr 22, 32889256: 32889256
2FBXO7NM_012179.3(FBXO7): c.1492C> T (p.Arg498Ter)SNVPathogenicrs121918304GRCh37Chr 22, 32894440: 32894440
3FBXO7NM_012179.3(FBXO7): c.1144+1G> TSNVPathogenicrs730880272GRCh37Chr 22, 32889269: 32889269
4FBXO7NM_012179.3(FBXO7): c.65C> T (p.Thr22Met)SNVPathogenicrs121918305GRCh37Chr 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
19.0PARK2, PARK7, SNCA
28.5PARK2, PARK7, PINK1, SNCA
3
Show member pathways
8.5PARK2, PARK7, PINK1, SNCA
48.1ATP13A2, PARK2, PARK7, PINK1, 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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.3PARK7, SNCA
2Lewy bodyGO:009741310.2PARK2, PINK1
3presynapseGO:00987939.9PARK2, PARK7
4neuron projectionGO:00430059.6ATP13A2, PARK2, PARK7
5axonGO:00304249.4PARK7, PINK1, SNCA, SPG11
6mitochondrial intermembrane spaceGO:00057589.3PANK2, PARK7, PINK1
7ubiquitin ligase complexGO:00001519.1FBXO7, PARK2, PINK1
8perinuclear region of cytoplasmGO:00484719.0PARK2, PARK7, PINK1, SNCA
9mitochondrionGO:00057397.6FBXO7, PANK2, PARK2, PARK7, PINK1, PLA2G6
10cytoplasmGO:00057377.3FBXO7, PANK2, PARK2, PARK7, PINK1, PLA2G6
11cytosolGO:00058297.2FBXO7, PANK2, PARK2, PARK7, PINK1, PLA2G6

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1dopamine metabolic processGO:004241710.3PARK2, SNCA
2cellular response to manganese ionGO:007128710.3ATP13A2, PARK2
3protein destabilizationGO:003164810.2PARK2, SNCA
4regulation of dopamine secretionGO:001405910.2PARK2, SNCA
5positive regulation of release of cytochrome c from mitochondriaGO:009020010.2PINK1, PLA2G6
6cellular response to toxic substanceGO:009723710.1PARK2, PINK1
7negative regulation of JNK cascadeGO:004632910.1PARK2, PINK1
8regulation of neurotransmitter secretionGO:004692810.1PARK2, SNCA
9negative regulation of reactive oxygen species metabolic processGO:200037810.1PARK2, PINK1
10positive regulation of mitochondrial fissionGO:009014110.1PARK2, PINK1
11activation of protein kinase B activityGO:003214810.1PARK7, PINK1
12negative regulation of cell deathGO:006054810.0PARK2, PARK7
13negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.0PARK2, PARK7
14negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.0PARK7, PINK1
15negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.0PARK2, PARK7
16negative regulation of oxidative stress-induced neuron deathGO:190320410.0PARK7, PINK1
17positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.0PARK7, PINK1
18regulation of protein targeting to mitochondrionGO:19032149.9PARK2, PINK1
19regulation of protein ubiquitinationGO:00313969.9PARK2, PINK1
20regulation of neuron apoptotic processGO:00435239.9PARK7, PINK1
21regulation of synaptic vesicle transportGO:19028039.8PARK2, PINK1
22mitophagyGO:00004229.8FBXO7, PARK2, PINK1
23synaptic vesicle transportGO:00484899.8SNCA, SPG11
24adult locomotory behaviorGO:00083449.7PARK2, PARK7, SNCA
25dopamine uptake involved in synaptic transmissionGO:00515839.7PARK2, PARK7, SNCA
26negative regulation of protein phosphorylationGO:00019339.6PARK2, PARK7, SNCA
27positive regulation of peptidyl-serine phosphorylationGO:00331389.6PARK7, PINK1, SNCA
28regulation of mitochondrion organizationGO:00108219.6ATP13A2, PARK2, PINK1
29regulation of mitophagyGO:19031469.6ATP13A2, PARK2, PINK1
30zinc ion homeostasisGO:00550699.6ATP13A2, PARK2
31mitochondrion organizationGO:00070059.5PARK2, PARK7, PINK1
32regulation of reactive oxygen species metabolic processGO:20003779.5PARK2, PINK1, SNCA
33negative regulation of gene expressionGO:00106299.5PARK2, PARK7, PINK1
34negative regulation of oxidative stress-induced cell deathGO:19032029.5PARK2, PARK7, PINK1
35protein stabilizationGO:00508219.4PARK2, PARK7, PINK1
36cellular response to oxidative stressGO:00345999.3ATP13A2, PARK7, PINK1, SNCA
37synaptic transmission, dopaminergicGO:00019639.3PARK2, PARK7, SNCA
38negative regulation of neuron deathGO:19012159.3ATP13A2, PARK2, PARK7, SNCA
39negative regulation of neuron apoptotic processGO:00435249.1PARK2, PARK7, PINK1, SNCA
40regulation of mitochondrial membrane potentialGO:00518818.6PANK2, PARK2, PARK7, PINK1

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.9PARK7, SNCA
2phospholipase bindingGO:00432749.9PARK2, SNCA
3cupric ion bindingGO:19031359.9ATP13A2, PARK7
4ubiquitin-specific protease bindingGO:19903819.3PARK2, PARK7

Sources for Parkinson Disease 15, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet