MCID: PRK027
MIFTS: 28

Parkinson Disease 15, Autosomal Recessive malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Metabolic diseases categories

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Parkinson Disease 15, Autosomal Recessive:

Name: Parkinson Disease 15, Autosomal Recessive 49 11 65
Pallidopyramidal Syndrome 45 51 67
Parkinsonian-Pyramidal Syndrome 51 67
Parkinson Disease 15 Autosomal Recessive 67
Pallido-Pyramidal Syndrome 67
 
Pallido-Pyramidal Disease 45
Parkinson Disease 15 67
Park15 67
Pkps 67
Pps 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 260300
Orphanet51 171695
ICD10 via Orphanet28 G20
MedGen34 C1850100
MeSH36 D020734

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 parkinson disease, late-onset and pancreatitis, and has symptoms including autosomal recessive inheritance, slow saccadic eye movements and dysarthria. An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-Box Protein 7). Affiliated tissues include eye.

Description from OMIM:49 260300

Related Diseases for Parkinson Disease 15, Autosomal Recessive

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Diseases in the Secondary Parkinson Disease family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease, Late-Onset 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 106)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset29.9FBXO7, SNCA
2pancreatitis10.4
3postpoliomyelitis syndrome10.4
4blepharospasm10.3
5popliteal pterygium syndrome 110.3
6inclusion body myositis10.2
7myositis10.2
8cerebritis10.2
9dicer1-related disorders10.2
10fbxo7-related parkinson disease10.1
11malaria10.1
12breast cancer10.1
13osteoarthritis-510.1
14hydrocephalus10.1
15osteoarthritis10.1
16walker-warburg syndrome10.1
17plasmodium falciparum malaria10.1
18parasitic protozoa infectious disease10.1
19psoriasis10.1
20sarcoma10.1
21viral infectious disease10.1
22pustular psoriasis10.1
23peters anomaly9.9
24hepatocellular carcinoma9.9
25coronary heart disease 29.9
26coronary artery disease9.9
27obesity9.9
28coronary heart disease 59.9
29adult syndrome9.9
30multiple system atrophy9.9
31spinal muscular atrophy-19.9
32peeling skin syndrome 19.9
33trichohepatoenteric syndrome 29.9
34coronary heart disease 69.9
35coronary heart disease 49.9
36exfoliation syndrome9.9
37cerebral amyloid angiopathy9.9
38popliteal pterygium syndrome 2, lethal type9.9
39sorsby fundus dystrophy9.9
40ichthyosis, x-linked9.9
41peripheral vascular disease9.9
42acne9.9
43end stage renal failure9.9
44exocrine pancreatic insufficiency9.9
45female stress incontinence9.9
46ischemic heart disease9.9
47muscle disorders9.9
48spinal muscular atrophy9.9
49spinal polio9.9
50adult spinal muscular atrophy9.9

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 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 slow saccadic eye movements HP:0000514
3 dysarthria HP:0001260
4 dystonia HP:0001332
5 tremor HP:0001337
6 hyperreflexia HP:0001347
7 talipes equinovarus HP:0001762
8 lower limb spasticity HP:0002061
9 rigidity HP:0002063
10 bradykinesia HP:0002067
11 abnormality of extrapyramidal motor function HP:0002071
12 postural instability HP:0002172
13 parkinsonism with favorable response to dopaminergic medication HP:0002548
14 babinski sign HP:0003487
15 slow progression HP:0003677
16 young adult onset HP:0011462
17 scissor gait HP:0012407

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
Eye

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

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

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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