MCID: PRK027
MIFTS: 18

Parkinson Disease 15, Autosomal Recessive malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Parkinson Disease 15, Autosomal Recessive, also known as parkinsonian-pyramidal syndrome, is related to pallidopyramidal syndrome and fbxo7-related parkinson disease. An important gene associated with Parkinson Disease 15, Autosomal Recessive is FBXO7 (F-box protein 7).

Description from OMIM:48 168100,260300

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
parkinsonian-pyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

parkinson disease 15, autosomal recessive 48 63
parkinsonian-pyramidal syndrome 50 48
pallidopyramidal syndrome 50


External Ids:

ICD10 via Orphanet27 G20

Related Diseases for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
2fbxo7-related parkinson disease10.3
3parkinson's disease10.1SNCA

Symptoms for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

168100

Clinical features from OMIM:

168100,260300

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Parkinson Disease 15, Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 15, Autosomal Recessive

Search NIH Clinical Center for Parkinson Disease 15, Autosomal Recessive

Search CenterWatch 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
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1FBXO7p.Arg378GlyVAR_047938rs71799110

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

1
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
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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
  • Antibodies

Sources for Parkinson Disease 15, Autosomal Recessive

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet