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 24 25 73
Progressive Myoclonus Epilepsy with Ataxia 25 29 6
Epm1b 24 25
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia 25
Myoclonus Epilepsy with Ataxia, Progressive 40
Progressive Myoclonic Epilepsy 1b 25
Pme with Ataxia 25

Characteristics:

GeneReviews:

24
Penetrance Complete penetrance was observed in the original families studied...

External Ids:

UMLS 73 C2676254

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 progressive myoclonus epilepsy with ataxia, is related to epilepsy, progressive myoclonic, 1b and progressive myoclonus 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 31.7 PRICKLE1 TBC1D24
2 progressive myoclonus epilepsy 29.1 PRICKLE1 TBC1D24
3 epilepsy 28.7 PRICKLE1 TBC1D24
4 myoclonus epilepsy 10.2
5 myoclonus 10.2
6 unverricht-lundborg syndrome 9.3 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 29 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
(show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRICKLE1 NM_153026.2(PRICKLE1): c.311G> A (p.Arg104Gln) single nucleotide variant Likely pathogenic rs113994140 GRCh37 Chromosome 12, 42863325: 42863325
2 PRICKLE1 NM_153026.2(PRICKLE1): c.311G> A (p.Arg104Gln) single nucleotide variant Likely pathogenic rs113994140 GRCh38 Chromosome 12, 42469523: 42469523
3 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh37 Chromosome 12, 42858422: 42858422
4 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh38 Chromosome 12, 42464620: 42464620
5 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh37 Chromosome 12, 42853845: 42853845
6 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh38 Chromosome 12, 42460043: 42460043
7 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh38 Chromosome 12, 42465210: 42465210
8 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh37 Chromosome 12, 42859012: 42859012
9 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh38 Chromosome 16, 2498333: 2498333
10 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh37 Chromosome 16, 2548334: 2548334
11 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh37 Chromosome 12, 42862582: 42862582
12 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh38 Chromosome 12, 42468780: 42468780
13 PRICKLE1 NM_153026.2(PRICKLE1): c.1435G> A (p.Gly479Arg) single nucleotide variant Uncertain significance rs570770626 GRCh37 Chromosome 12, 42858401: 42858401
14 PRICKLE1 NM_153026.2(PRICKLE1): c.1435G> A (p.Gly479Arg) single nucleotide variant Uncertain significance rs570770626 GRCh38 Chromosome 12, 42464599: 42464599
15 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh37 Chromosome 12, 42853891: 42853891
16 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh38 Chromosome 12, 42460089: 42460089
17 PRICKLE1 NM_153026.2(PRICKLE1): c.2404C> T (p.Pro802Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150545495 GRCh38 Chromosome 12, 42459901: 42459901
18 PRICKLE1 NM_153026.2(PRICKLE1): c.2404C> T (p.Pro802Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150545495 GRCh37 Chromosome 12, 42853703: 42853703
19 PRICKLE1 NM_153026.2(PRICKLE1): c.2269G> A (p.Glu757Lys) single nucleotide variant Uncertain significance rs145860632 GRCh37 Chromosome 12, 42853838: 42853838
20 PRICKLE1 NM_153026.2(PRICKLE1): c.2269G> A (p.Glu757Lys) single nucleotide variant Uncertain significance rs145860632 GRCh38 Chromosome 12, 42460036: 42460036
21 PRICKLE1 NM_153026.2(PRICKLE1): c.1888C> G (p.Gln630Glu) single nucleotide variant Uncertain significance rs200171609 GRCh38 Chromosome 12, 42460417: 42460417
22 PRICKLE1 NM_153026.2(PRICKLE1): c.1888C> G (p.Gln630Glu) single nucleotide variant Uncertain significance rs200171609 GRCh37 Chromosome 12, 42854219: 42854219
23 PRICKLE1 NM_153026.2(PRICKLE1): c.1676C> T (p.Ser559Leu) single nucleotide variant Uncertain significance rs771584708 GRCh38 Chromosome 12, 42460629: 42460629
24 PRICKLE1 NM_153026.2(PRICKLE1): c.1676C> T (p.Ser559Leu) single nucleotide variant Uncertain significance rs771584708 GRCh37 Chromosome 12, 42854431: 42854431
25 PRICKLE1 NM_153026.2(PRICKLE1): c.1639+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs550752320 GRCh38 Chromosome 12, 42464392: 42464392
26 PRICKLE1 NM_153026.2(PRICKLE1): c.1639+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs550752320 GRCh37 Chromosome 12, 42858194: 42858194
27 PRICKLE1 NM_153026.2(PRICKLE1): c.1547G> C (p.Trp516Ser) single nucleotide variant Uncertain significance rs139901494 GRCh38 Chromosome 12, 42464487: 42464487
28 PRICKLE1 NM_153026.2(PRICKLE1): c.1547G> C (p.Trp516Ser) single nucleotide variant Uncertain significance rs139901494 GRCh37 Chromosome 12, 42858289: 42858289
29 PRICKLE1 NM_153026.2(PRICKLE1): c.1360G> A (p.Glu454Lys) single nucleotide variant Uncertain significance rs748454609 GRCh38 Chromosome 12, 42464674: 42464674
30 PRICKLE1 NM_153026.2(PRICKLE1): c.1360G> A (p.Glu454Lys) single nucleotide variant Uncertain significance rs748454609 GRCh37 Chromosome 12, 42858476: 42858476
31 PRICKLE1 NM_153026.2(PRICKLE1): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs35731866 GRCh37 Chromosome 12, 42862625: 42862625
32 PRICKLE1 NM_153026.2(PRICKLE1): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs35731866 GRCh38 Chromosome 12, 42468823: 42468823
33 PRICKLE1 NM_153026.2(PRICKLE1): c.132G> A (p.Gln44=) single nucleotide variant Uncertain significance rs377668062 GRCh37 Chromosome 12, 42866187: 42866187
34 PRICKLE1 NM_153026.2(PRICKLE1): c.132G> A (p.Gln44=) single nucleotide variant Uncertain significance rs377668062 GRCh38 Chromosome 12, 42472385: 42472385
35 PRICKLE1 NM_153026.2(PRICKLE1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145493619 GRCh38 Chromosome 12, 42472404: 42472404
36 PRICKLE1 NM_153026.2(PRICKLE1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145493619 GRCh37 Chromosome 12, 42866206: 42866206
37 PRICKLE1 NM_153026.2(PRICKLE1): c.25A> G (p.Met9Val) single nucleotide variant Uncertain significance rs566073131 GRCh37 Chromosome 12, 42866294: 42866294
38 PRICKLE1 NM_153026.2(PRICKLE1): c.25A> G (p.Met9Val) single nucleotide variant Uncertain significance rs566073131 GRCh38 Chromosome 12, 42472492: 42472492
39 PRICKLE1 NM_153026.2(PRICKLE1): c.2316G> A (p.Ser772=) single nucleotide variant Uncertain significance rs143240342 GRCh38 Chromosome 12, 42459989: 42459989
40 PRICKLE1 NM_153026.2(PRICKLE1): c.2316G> A (p.Ser772=) single nucleotide variant Uncertain significance rs143240342 GRCh37 Chromosome 12, 42853791: 42853791
41 PRICKLE1 NM_153026.2(PRICKLE1): c.47G> A (p.Cys16Tyr) single nucleotide variant Uncertain significance rs746768839 GRCh37 Chromosome 12, 42866272: 42866272
42 PRICKLE1 NM_153026.2(PRICKLE1): c.47G> A (p.Cys16Tyr) single nucleotide variant Uncertain significance rs746768839 GRCh38 Chromosome 12, 42472470: 42472470
43 PRICKLE1 NC_000012.11: g.42870202_42899456del29255 deletion Likely pathogenic GRCh37 Chromosome 12, 42870202: 42899456
44 PRICKLE1 NM_153026.2(PRICKLE1): c.*1047C> T single nucleotide variant Uncertain significance rs11181513 GRCh38 Chromosome 12, 42458762: 42458762
45 PRICKLE1 NM_153026.2(PRICKLE1): c.*1292T> C single nucleotide variant Uncertain significance rs886049370 GRCh38 Chromosome 12, 42458517: 42458517
46 PRICKLE1 NM_153026.2(PRICKLE1): c.*1292T> C single nucleotide variant Uncertain significance rs886049370 GRCh37 Chromosome 12, 42852319: 42852319
47 PRICKLE1 NM_153026.2(PRICKLE1): c.*1218G> A single nucleotide variant Uncertain significance rs886049371 GRCh37 Chromosome 12, 42852393: 42852393
48 PRICKLE1 NM_153026.2(PRICKLE1): c.*1218G> A single nucleotide variant Uncertain significance rs886049371 GRCh38 Chromosome 12, 42458591: 42458591
49 PRICKLE1 NM_153026.2(PRICKLE1): c.*1047C> T single nucleotide variant Uncertain significance rs11181513 GRCh37 Chromosome 12, 42852564: 42852564
50 PRICKLE1 NM_153026.2(PRICKLE1): c.*715G> T single nucleotide variant Uncertain significance rs147942021 GRCh38 Chromosome 12, 42459094: 42459094

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

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