MCID: PRK027
MIFTS: 42

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 49 11 65
Pallidopyramidal Syndrome 10 45 51 67
Parkinsonian-Pyramidal Syndrome 10 51 67
Autosomal Recessive Early-Onset Parkinson Disease 15 10 12
Parkinson Disease 15 67 24
Park15 10 67
 
Parkinson Disease 15 Autosomal Recessive 67
Pallido-Pyramidal Syndrome 67
Pallido-Pyramidal Disease 45
Pkps 67
Pps 67

Characteristics:

Orphanet epidemiological data:

51
pallidopyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult

HPO:

61
parkinson disease 15, autosomal recessive:
Onset and clinical course: young adult onset, slow progression
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 260300
Disease Ontology10 DOID:0060372
Orphanet51 171695
ICD10 via Orphanet28 G20
MedGen34 C1850100
MeSH36 D020734
UMLS65 C1850100

Summaries for Parkinson Disease 15, Autosomal Recessive

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UniProtKB/Swiss-Prot:67 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 scissor gait, babinski sign and parkinsonism with favorable response to dopaminergic medication. 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 prostate, heart and eye, and related mouse phenotypes are cellular and behavior/neurological.

Disease Ontology:10 A Parkinson's disease caused by mutation in the FBXO7 gene located on chromosome 22q12.3.

Description from OMIM:49 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

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

(show top 50)    (show all 74)
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
6pancreatitis10.2
7irf6-related disorders10.1
8blepharospasm10.1
9pde6d-related joubert syndrome10.0PARK7, SNCA
10inclusion body myositis10.0
11myositis10.0
12cerebritis9.9
13pellagra9.9
14breast cancer9.8
15hydrocephalus9.8
16walker-warburg syndrome9.8
17kidney cancer9.8
18psoriasis9.8
19pustular psoriasis9.8
20gangliosidosis9.8PANK2, PLA2G6, SNCA
21hypotrichosis 79.8PARK2, SNCA
22nonsyndromic 46,xx testicular disorders of sex development9.8ATP13A2, PANK2, PLA2G6
23cerebral amyloid angiopathy9.7
24sorsby fundus dystrophy9.7
25acne9.7
26end stage renal failure9.7
27exocrine pancreatic insufficiency9.7
28synucleinopathy9.7
29myelomeningocele9.7
30asbestosis9.7
31sarcoma9.7
32diabetic autonomic neuropathy9.7
33autonomic neuropathy9.7
34dementia9.7
35gout9.7
36uterine fibroid9.7
37aggressive periodontitis9.7
38cholera9.7
39panniculitis9.7
40dermatitis9.7
41syringomyelia9.7
42adenosine deaminase deficiency9.7
43neuronitis9.7
44periodontitis9.7
45fundus dystrophy9.7
46neuropathy9.7
47cleft lip9.7
48muscular dystrophy9.7
49encephalocele9.7
50glucagonoma9.7

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

UMLS symptoms related to Parkinson Disease 15, Autosomal Recessive:


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

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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Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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

33
Prostate, Heart, Eye, Breast, Colon, Kidney, Endothelial

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.3ATP13A2, PANK2, PARK2, PARK7, PLA2G6, SNCA
2MP:00053867.2ATP13A2, PANK2, PARK2, PARK7, PLA2G6, SNCA
3MP:00036317.0ATP13A2, 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:

67
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

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
1axonGO:00304249.7PARK7, SNCA
2mitochondrionGO:00057399.0FBXO7, PANK2, PARK7

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron deathGO:19012159.8PARK7, SNCA
2phospholipid metabolic processGO:00066449.8PLA2G6, SNCA
3positive regulation of peptidyl-serine phosphorylationGO:00331389.7PARK7, SNCA
4dopamine uptake involved in synaptic transmissionGO:00515839.7PARK2, SNCA
5adult locomotory behaviorGO:00083449.7PARK7, SNCA
6regulation of neurotransmitter secretionGO:00469289.6PARK2, SNCA
7negative regulation of neuron apoptotic processGO:00435249.6PARK2, SNCA
8mitophagyGO:00004229.6FBXO7, PARK2
9mitochondrion organizationGO:00070059.4PARK2, PARK7
10negative regulation of cell deathGO:00605489.0PARK2, PARK7
11response to oxidative stressGO:00069798.9PARK2, PARK7
12negative regulation of protein phosphorylationGO:00019338.7PARK2, PARK7
13synaptic transmission, dopaminergicGO:00019638.7PARK2, PARK7, SNCA

Sources for Parkinson Disease 15, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet