MCID: PRC020
MIFTS: 13

Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Aliases & Classifications for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

MalaCards integrated aliases for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:

Name: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 23 24 69
Progressive Myoclonus Epilepsy with Ataxia 24 28
Epm1b 23 24
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia 24
Progressive Myoclonic Epilepsy 1b 24
Pme with Ataxia 24

Characteristics:

GeneReviews:

23
Penetrance Complete penetrance was observed in the original families studied...

External Ids:

UMLS 69 C2676254

Summaries for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Genetics Home Reference : 24 PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10.

MalaCards based summary : Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia, also known as progressive myoclonus epilepsy with ataxia, is related to epilepsy, progressive myoclonic, 1b and epilepsy, and has symptoms including fine tremor An important gene associated with Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia is PRICKLE1 (Prickle Planar Cell Polarity Protein 1).

GeneReviews: NBK9674

Related Diseases for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Diseases related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, progressive myoclonic, 1b 32.0 PRICKLE1 TBC1D24
2 epilepsy 29.3 PRICKLE1 TBC1D24
3 ataxia and polyneuropathy, adult-onset 10.2
4 progressive myoclonus epilepsy 10.2
5 myoclonus epilepsy 10.2
6 myoclonus 10.2
7 unverricht-lundborg syndrome 9.5 PRICKLE1 TBC1D24

Graphical network of the top 20 diseases related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:



Diseases related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Symptoms & Phenotypes for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

UMLS symptoms related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:


fine tremor

Drugs & Therapeutics for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Search Clinical Trials , NIH Clinical Center for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Genetic Tests for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Genetic tests related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:

# Genetic test Affiliating Genes
1 Progressive Myoclonus Epilepsy with Ataxia 28 PRICKLE1

Anatomical Context for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Publications for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Articles related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:

# Title Authors Year
1
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia ( 20301774 )
1993

Variations for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

ClinVar genetic disease variations for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh37 Chromosome 12, 42858422: 42858422
2 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh38 Chromosome 16, 2498333: 2498333
3 PRICKLE1 NM_153026.2(PRICKLE1): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic/Likely pathogenic rs113994140 GRCh37 Chromosome 12, 42863325: 42863325

Expression for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Search GEO for disease gene expression data for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia.

Pathways for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

GO Terms for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Sources for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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