MCID: PRK027
MIFTS: 21

Parkinson Disease 15, Autosomal Recessive malady

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

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

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Sources:
46OMIM, 9diseasecard, 61UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Parkinson Disease 15, Autosomal Recessive:

Name: Parkinson Disease 15, Autosomal Recessive 46 9 61
Parkinsonian-Pyramidal Syndrome 42 48
Pallidopyramidal Syndrome 42 48
 
Pallido-Pyramidal Disease 42
Parkinson Disease 15 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
parkinsonian-pyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult


External Ids:

OMIM46 260300
Orphanet48 171695
ICD10 via Orphanet26 G20

Summaries for Parkinson Disease 15, Autosomal Recessive

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MalaCards based summary: Parkinson Disease 15, Autosomal Recessive, also known as parkinsonian-pyramidal syndrome, is related to parkinson disease, late-onset, 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:46 260300

Related Diseases for Parkinson Disease 15, Autosomal Recessive

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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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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 15, Autosomal Recessive

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 1522

Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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

31
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:

63
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
3FBXO7FBXO7, IVS7DS, G-T, +1single nucleotide variantPathogenic
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet