MCID: PRK027
MIFTS: 18

Parkinson Disease 15, Autosomal Recessive malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Parkinson Disease 15, Autosomal Recessive

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Sources:
47OMIM, 33MalaCards
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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:47 168100,260300

Aliases & Classifications for Parkinson Disease 15, Autosomal Recessive

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Sources:
49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
parkinsonian-pyramidal syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

parkinson disease 15, autosomal recessive 47 62
parkinsonian-pyramidal syndrome 49 47
pallidopyramidal syndrome 49


External Ids:

ICD10 via Orphanet26 G20

Related Diseases for Parkinson Disease 15, Autosomal Recessive

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Sources:
17GeneCards, 18GeneDecks
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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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

168100

Clinical features from OMIM:

168100,260300

Drugs & Therapeutics for Parkinson Disease 15, Autosomal Recessive

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Anatomical Context for Parkinson Disease 15, Autosomal Recessive

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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

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

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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

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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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Products for genes affiliated with Parkinson Disease 15, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease 15, Autosomal Recessive

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet