MCID: RRP019
MIFTS: 10

Rare Parkinsonian Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Parkinsonian Disorder

MalaCards integrated aliases for Rare Parkinsonian Disorder:

Name: Rare Parkinsonian Disorder 58
Rare Hypokinetic Movement Disorder 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0242422
Orphanet 58 ORPHA68402

Summaries for Rare Parkinsonian Disorder

MalaCards based summary : Rare Parkinsonian Disorder, is also known as rare hypokinetic movement disorder. An important gene associated with Rare Parkinsonian Disorder is GBA (Glucosylceramidase Beta).

Related Diseases for Rare Parkinsonian Disorder

Symptoms & Phenotypes for Rare Parkinsonian Disorder

Drugs & Therapeutics for Rare Parkinsonian Disorder

Search Clinical Trials , NIH Clinical Center for Rare Parkinsonian Disorder

Genetic Tests for Rare Parkinsonian Disorder

Anatomical Context for Rare Parkinsonian Disorder

Publications for Rare Parkinsonian Disorder

Articles related to Rare Parkinsonian Disorder:

(showing 3, show less)
# Title Authors PMID Year
1
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. 61
24503276 2014
2
F-box only protein 7 gene in parkinsonian-pyramidal disease. 61
23318512 2013
3
New insights into progressive supranuclear palsy. 61
11356507 2001

Variations for Rare Parkinsonian Disorder

ClinVar genetic disease variations for Rare Parkinsonian Disorder:

6 (showing 14, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro)SNV risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252
2 GBA NM_000157.4(GBA):c.1093G>A (p.Glu365Lys)SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376
3 MRE11 NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln)SNV Conflicting interpretations of pathogenicity 127974 rs139461096 11:94180441-94180441 11:94447275-94447275
4 MT-ND6 NC_012920.1:m.14598T>CSNV Conflicting interpretations of pathogenicity 374080 rs1057518882 MT:14598-14598 MT:14598-14598
5 TBC1D24 NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)SNV Uncertain significance 375708 rs1057519630 16:2546553-2546553 16:2496552-2496552
6 TBC1D24 NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)SNV Uncertain significance 375707 rs1057519629 16:2548333-2548333 16:2498332-2498332
7 MRE11 NM_005591.3(MRE11):c.229G>A (p.Glu77Lys)SNV Uncertain significance 481777 rs779269083 11:94219175-94219175 11:94486009-94486009
8 GBA NM_000157.4(GBA):c.1279G>A (p.Glu427Lys)SNV Uncertain significance 493050 rs149171124 1:155205581-155205581 1:155235790-155235790
9 PDGFRB NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)SNV Uncertain significance 523454 rs1554107047 5:149495406-149495406 5:150115843-150115843
10 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)SNV Uncertain significance 523569 rs766248910 20:2375166-2375166 20:2394520-2394520
11 ADCY5 NM_183357.2(ADCY5):c.649del (p.Arg217fs)deletion Uncertain significance 373900 rs1057518757 3:123166744-123166744 3:123447897-123447897
12 CSF1R NM_005211.3(CSF1R):c.647G>A (p.Arg216Gln)SNV Uncertain significance 374038 rs750413238 5:149457757-149457757 5:150078194-150078194
13 LRRK2 NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu)SNV Uncertain significance 373908 rs762890407 12:40717099-40717099 12:40323297-40323297
14 TYROBP NM_003332.3(TYROBP):c.94G>A (p.Asp32Asn)SNV Uncertain significance 374122 rs758290972 19:36398632-36398632 19:35907730-35907730

Expression for Rare Parkinsonian Disorder

Search GEO for disease gene expression data for Rare Parkinsonian Disorder.

Pathways for Rare Parkinsonian Disorder

GO Terms for Rare Parkinsonian Disorder

Sources for Rare Parkinsonian Disorder

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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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