MCID: PRK027
MIFTS: 19

Parkinson Disease 15, Autosomal Recessive malady

Genetic diseases, Neuronal diseases, Rare diseases categories
Download this MalaCard

Summaries for Parkinson Disease 15, Autosomal Recessive

About this section


Fully expand this MalaCard
MalaCards based summary: Parkinson Disease 15, Autosomal Recessive, also known as parkinsonian-pyramidal syndrome, is related to pallidopyramidal syndrome and parkinson's disease, and has symptoms including An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-box protein 7).

Descriptions from OMIM:46 168100,260300

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Parkinson Disease 15, Autosomal Recessive, Aliases & Descriptions:

Name: Parkinson Disease 15, Autosomal Recessive 46 62
Parkinsonian-Pyramidal Syndrome 48 46
 
Pallido-Pyramidal Syndrome 62
Pallidopyramidal Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
parkinsonian-pyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood


External Ids:

ICD10 via Orphanet26 G20

Related Diseases for Parkinson Disease 15, Autosomal Recessive

About this section

Diseases in the Parkinson Disease 15, Autosomal Recessive family:

Autosomal Recessive Juvenile Parkinson Disease Parkinson Disease 7, Autosomal Recessive Early-Onset

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

idRelated DiseaseScoreTop Affiliating Genes
1pallidopyramidal syndrome10.3
2parkinson's disease10.2SNCA

Symptoms for Parkinson Disease 15, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

168100

Clinical features from OMIM:

168100,260300

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

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 mask-like facies HP:0000298
3 dysarthria HP:0001260
4 gait disturbance HP:0001288
5 parkinsonism HP:0001300
6 tremor HP:0001337
7 abnormality of metabolism/homeostasis HP:0001939
8 rigidity HP:0002063
9 bradykinesia HP:0002067
10 slow progression HP:0003677
11 autosomal recessive inheritance HP:0000007
12 slow saccadic eye movements HP:0000514
13 dysarthria HP:0001260
14 dystonia HP:0001332
15 tremor HP:0001337
16 hyperreflexia HP:0001347
17 talipes equinovarus HP:0001762
18 lower limb spasticity HP:0002061
19 rigidity HP:0002063
20 bradykinesia HP:0002067
21 abnormality of extrapyramidal motor function HP:0002071
22 postural instability HP:0002172
23 parkinsonism with favorable response to dopaminergic medication HP:0002548
24 babinski sign HP:0003487
25 slow progression HP:0003677
26 young adult onset HP:0011462
27 scissor gait HP:0012407

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

About this section

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

About this section

Anatomical Context for Parkinson Disease 15, Autosomal Recessive

About this section

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

About this section

Publications for Parkinson Disease 15, Autosomal Recessive

About this section

Variations for Parkinson Disease 15, Autosomal Recessive

About this section

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

64
id Symbol AA change Variation ID SNP ID
1FBXO7p.Arg378GlyVAR_047938rs71799110

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

6
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Parkinson Disease 15, Autosomal Recessive

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

Pathways for genes affiliated with Parkinson Disease 15, Autosomal Recessive

About this section

Compounds for genes affiliated with Parkinson Disease 15, Autosomal Recessive

About this section

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

About this section

Products for genes affiliated with Parkinson Disease 15, Autosomal Recessive

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Parkinson Disease 15, Autosomal Recessive

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet