Details of Disease

General Information of Disease (ID: DISHIIPA)

Disease Name Parkinsonian-pyramidal syndrome
Synonyms
pallido-pyramidal disease; Parkinson disease 15, autosomal recessive early-onset; autosomal recessive early-onset Parkinson's disease 15; PARK15; pallido-pyramidal syndrome; Parkinson disease 15, autosomal recessive; Pallidopyramidal syndrome; autosomal recessive early-onset Parkinson disease type 15; parkinsonian-pyramidal syndrome; autosomal recessive early-onset Parkinson disease 15; pallidopyramidal syndrome
Definition A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.
Disease Hierarchy
DISQVHKL: Parkinson disease
DISHIIPA: Parkinsonian-pyramidal syndrome
Disease Identifiers
MONDO ID
MONDO_0009830
MESH ID
C538104
UMLS CUI
C1850100
OMIM ID
260300
MedGen ID
337969
Orphanet ID
171695
SNOMED CT ID
783012006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TOR1A TTF85KW Limited Genetic Variation [1]
SNCA TT08OSU Supportive Autosomal recessive [2]
SNCA TT08OSU Strong GermlineCausalMutation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SNCA OTPWC1MR Supportive Autosomal recessive [2]
C19orf12 OTVSJ1AR Strong Genetic Variation [3]
FBXO7 OTGTN8TJ Strong Autosomal recessive [4]
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References

1 Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.J Korean Med Sci. 2018 May 24;33(28):e184. doi: 10.3346/jkms.2018.33.e184. eCollection 2018 Jul 9.
2 G51D -synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol. 2013 Apr;73(4):459-71. doi: 10.1002/ana.23894.
3 C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.