MCID: PRC020
MIFTS: 16

Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Categories: Genetic diseases

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 25 69
Epm1b 23 24 25
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia 24 25
Progressive Myoclonus Epilepsy with Ataxia 25 29
Progressive Myoclonic Epilepsy 1b 25
Pme with Ataxia 25

Characteristics:

GeneReviews:

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

Classifications:



Summaries for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

Genetics Home Reference : 25 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 epm1b, 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:

id Related Disease Score Top Affiliating Genes
1 epilepsy, progressive myoclonic 1b 10.8
2 epilepsy 10.1
3 progressive myoclonus epilepsy 10.1
4 myoclonus epilepsy 10.1
5 ataxia 10.1
6 myoclonus 10.1
7 pura-related neurodevelopmental disorders 9.5 PRICKLE1 TBC1D24
8 mononeuritis multiplex 9.5 PRICKLE1 TBC1D24
9 lethal congenital contracture syndrome 8 9.4 PRICKLE1 TBC1D24
10 adult choroid plexus cancer 9.2 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:

id Genetic test Affiliating Genes
1 Progressive Myoclonus Epilepsy with Ataxia 29
2 Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 24 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:

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

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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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