MCID: RRP019
MIFTS: 13

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 59
Rare Hypokinetic Movement Disorder 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

UMLS via Orphanet 73 C0242422
Orphanet 59 ORPHA68402

Summaries for Rare Parkinsonian Disorder

MalaCards based summary : Rare Parkinsonian Disorder, also known as rare hypokinetic movement disorder, is related to early myoclonic encephalopathy. An important gene associated with Rare Parkinsonian Disorder is TBC1D24 (TBC1 Domain Family Member 24).

Related Diseases for Rare Parkinsonian Disorder

Diseases in the Rare Parkinsonian Disorder family:

Rare Parkinsonian Syndrome Due to Genetic Neurodegenerative Disease Rare Parkinsonian Syndrome Due to Intoxication
Rare Parkinsonian Syndrome Due to Neurodegenerative Disease

Diseases related to Rare Parkinsonian Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 9.5 TBC1D24 GBA

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:

# Title Authors PMID Year
1
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. 38
24503276 2014
2
F-box only protein 7 gene in parkinsonian-pyramidal disease. 38
23318512 2013
3
New insights into progressive supranuclear palsy. 38
11356507 2001

Variations for Rare Parkinsonian Disorder

ClinVar genetic disease variations for Rare Parkinsonian Disorder:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24): c.1078C> T (p.Arg360Cys) single nucleotide variant Pathogenic rs1057519629 16:2548333-2548333 16:2498332-2498332
2 GBA NM_001005741.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 1:155205043-155205043 1:155235252-155235252
3 GBA NM_001005741.3(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 1:155206167-155206167 1:155236376-155236376
4 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 MT:14598-14598 MT:14598-14598
5 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 11:94180441-94180441 11:94447275-94447275
6 TBC1D24 NM_001199107.2(TBC1D24): c.404C> T (p.Pro135Leu) single nucleotide variant Uncertain significance rs1057519630 16:2546553-2546553 16:2496552-2496552
7 MRE11 NM_005591.3(MRE11): c.229G> A (p.Glu77Lys) single nucleotide variant Uncertain significance rs779269083 11:94219175-94219175 11:94486009-94486009
8 GBA NM_001005741.3(GBA): c.1279G> A (p.Glu427Lys) single nucleotide variant Uncertain significance rs149171124 1:155205581-155205581 1:155235790-155235790
9 PDGFRB NM_002609.4(PDGFRB): c.3241G> A (p.Glu1081Lys) single nucleotide variant Uncertain significance rs1554107047 5:149495406-149495406 5:150115843-150115843
10 TGM6 NM_198994.3(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 20:2375166-2375166 20:2394520-2394520
11 ADCY5 NM_183357.2(ADCY5): c.649del (p.Arg217fs) deletion Uncertain significance rs1057518757 3:123166744-123166744 3:123447897-123447897
12 CSF1R NM_005211.3(CSF1R): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs750413238 5:149457757-149457757 5:150078194-150078194
13 LRRK2 NM_198578.4(LRRK2): c.5647T> C (p.Phe1883Leu) single nucleotide variant Uncertain significance rs762890407 12:40717099-40717099 12:40323297-40323297
14 TYROBP NM_003332.3(TYROBP): c.94G> A (p.Asp32Asn) single nucleotide variant Uncertain significance 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

Biological processes related to Rare Parkinsonian Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 8.62 TBC1D24 GBA

Sources for Rare Parkinsonian Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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