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 32.5 PRICKLE1 TBC1D24
2 progressive myoclonus epilepsy 30.2 PRICKLE1 TBC1D24
3 epilepsy 30.1 PRICKLE1 TBC1D24
4 myoclonus epilepsy 10.3
5 myoclonus 10.3
6 unverricht-lundborg syndrome 9.7 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 262)
# 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.431G> A (p.Arg144His) single nucleotide variant Uncertain significance rs281865563 GRCh37 Chromosome 12, 42862585: 42862585
4 PRICKLE1 NM_153026.2(PRICKLE1): c.431G> A (p.Arg144His) single nucleotide variant Uncertain significance rs281865563 GRCh38 Chromosome 12, 42468783: 42468783
5 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh37 Chromosome 12, 42858422: 42858422
6 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh38 Chromosome 12, 42464620: 42464620
7 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 GRCh37 Chromosome 12, 42858229: 42858229
8 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 GRCh38 Chromosome 12, 42464427: 42464427
9 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 NCBI36 Chromosome 12, 41144496: 41144496
10 PRICKLE1 NM_153026.2(PRICKLE1): c.114G> A (p.Pro38=) single nucleotide variant Conflicting interpretations of pathogenicity rs141743294 GRCh37 Chromosome 12, 42866205: 42866205
11 PRICKLE1 NM_153026.2(PRICKLE1): c.114G> A (p.Pro38=) single nucleotide variant Conflicting interpretations of pathogenicity rs141743294 GRCh38 Chromosome 12, 42472403: 42472403
12 PRICKLE1 NM_153026.2(PRICKLE1): c.1902T> C (p.Ser634=) single nucleotide variant Benign rs3747562 GRCh37 Chromosome 12, 42854205: 42854205
13 PRICKLE1 NM_153026.2(PRICKLE1): c.1902T> C (p.Ser634=) single nucleotide variant Benign rs3747562 GRCh38 Chromosome 12, 42460403: 42460403
14 PRICKLE1 NM_153026.2(PRICKLE1): c.2304C> G (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs35854729 GRCh37 Chromosome 12, 42853803: 42853803
15 PRICKLE1 NM_153026.2(PRICKLE1): c.2304C> G (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs35854729 GRCh38 Chromosome 12, 42460001: 42460001
16 PRICKLE1 NM_153026.2(PRICKLE1): c.1899T> C (p.Phe633=) single nucleotide variant Benign rs3747563 GRCh37 Chromosome 12, 42854208: 42854208
17 PRICKLE1 NM_153026.2(PRICKLE1): c.1899T> C (p.Phe633=) single nucleotide variant Benign rs3747563 GRCh38 Chromosome 12, 42460406: 42460406
18 PRICKLE1 NM_153026.2(PRICKLE1): c.2071A> G (p.Thr691Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149496604 GRCh37 Chromosome 12, 42854036: 42854036
19 PRICKLE1 NM_153026.2(PRICKLE1): c.2071A> G (p.Thr691Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149496604 GRCh38 Chromosome 12, 42460234: 42460234
20 PRICKLE1 NM_153026.2(PRICKLE1): c.2236C> T (p.Pro746Ser) single nucleotide variant Benign/Likely benign rs3827522 GRCh37 Chromosome 12, 42853871: 42853871
21 PRICKLE1 NM_153026.2(PRICKLE1): c.2236C> T (p.Pro746Ser) single nucleotide variant Benign/Likely benign rs3827522 GRCh38 Chromosome 12, 42460069: 42460069
22 PRICKLE1 NM_153026.2(PRICKLE1): c.370G> A (p.Ala124Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79087668 GRCh37 Chromosome 12, 42863266: 42863266
23 PRICKLE1 NM_153026.2(PRICKLE1): c.370G> A (p.Ala124Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79087668 GRCh38 Chromosome 12, 42469464: 42469464
24 PRICKLE1 NM_153026.2(PRICKLE1): c.374T> C (p.Val125Ala) single nucleotide variant Benign/Likely benign rs34837068 GRCh37 Chromosome 12, 42863262: 42863262
25 PRICKLE1 NM_153026.2(PRICKLE1): c.374T> C (p.Val125Ala) single nucleotide variant Benign/Likely benign rs34837068 GRCh38 Chromosome 12, 42469460: 42469460
26 PRICKLE1 NM_153026.2(PRICKLE1): c.585C> T (p.Asp195=) single nucleotide variant Benign/Likely benign rs74081707 GRCh37 Chromosome 12, 42862431: 42862431
27 PRICKLE1 NM_153026.2(PRICKLE1): c.585C> T (p.Asp195=) single nucleotide variant Benign/Likely benign rs74081707 GRCh38 Chromosome 12, 42468629: 42468629
28 PRICKLE1 NM_153026.2(PRICKLE1): c.744G> A (p.Ala248=) single nucleotide variant Benign/Likely benign rs34778200 GRCh37 Chromosome 12, 42860027: 42860027
29 PRICKLE1 NM_153026.2(PRICKLE1): c.744G> A (p.Ala248=) single nucleotide variant Benign/Likely benign rs34778200 GRCh38 Chromosome 12, 42466225: 42466225
30 PRICKLE1 NM_153026.2(PRICKLE1): c.108C> T (p.Val36=) single nucleotide variant Conflicting interpretations of pathogenicity rs147268650 GRCh37 Chromosome 12, 42866211: 42866211
31 PRICKLE1 NM_153026.2(PRICKLE1): c.108C> T (p.Val36=) single nucleotide variant Conflicting interpretations of pathogenicity rs147268650 GRCh38 Chromosome 12, 42472409: 42472409
32 PRICKLE1 NM_153026.2(PRICKLE1): c.177C> T (p.Tyr59=) single nucleotide variant Conflicting interpretations of pathogenicity rs144843013 GRCh37 Chromosome 12, 42864117: 42864117
33 PRICKLE1 NM_153026.2(PRICKLE1): c.177C> T (p.Tyr59=) single nucleotide variant Conflicting interpretations of pathogenicity rs144843013 GRCh38 Chromosome 12, 42470315: 42470315
34 PRICKLE1 NM_153026.2(PRICKLE1): c.471C> T (p.Val157=) single nucleotide variant Benign/Likely benign rs201613485 GRCh37 Chromosome 12, 42862545: 42862545
35 PRICKLE1 NM_153026.2(PRICKLE1): c.471C> T (p.Val157=) single nucleotide variant Benign/Likely benign rs201613485 GRCh38 Chromosome 12, 42468743: 42468743
36 PRICKLE1 NM_153026.2(PRICKLE1): c.954C> G (p.Ser318=) single nucleotide variant Benign rs139421676 GRCh37 Chromosome 12, 42858882: 42858882
37 PRICKLE1 NM_153026.2(PRICKLE1): c.954C> G (p.Ser318=) single nucleotide variant Benign rs139421676 GRCh38 Chromosome 12, 42465080: 42465080
38 PRICKLE1 NM_153026.2(PRICKLE1): c.954C> T (p.Ser318=) single nucleotide variant Conflicting interpretations of pathogenicity rs139421676 GRCh37 Chromosome 12, 42858882: 42858882
39 PRICKLE1 NM_153026.2(PRICKLE1): c.954C> T (p.Ser318=) single nucleotide variant Conflicting interpretations of pathogenicity rs139421676 GRCh38 Chromosome 12, 42465080: 42465080
40 PRICKLE1 NM_153026.2(PRICKLE1): c.1461C> T (p.Ser487=) single nucleotide variant Conflicting interpretations of pathogenicity rs116197349 GRCh37 Chromosome 12, 42858375: 42858375
41 PRICKLE1 NM_153026.2(PRICKLE1): c.1461C> T (p.Ser487=) single nucleotide variant Conflicting interpretations of pathogenicity rs116197349 GRCh38 Chromosome 12, 42464573: 42464573
42 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh37 Chromosome 12, 42853845: 42853845
43 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh38 Chromosome 12, 42460043: 42460043
44 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh38 Chromosome 12, 42465210: 42465210
45 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh37 Chromosome 12, 42859012: 42859012
46 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh38 Chromosome 16, 2498333: 2498333
47 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh37 Chromosome 16, 2548334: 2548334
48 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh37 Chromosome 12, 42862582: 42862582
49 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh38 Chromosome 12, 42468780: 42468780
50 PRICKLE1 NM_153026.2(PRICKLE1): c.1435G> A (p.Gly479Arg) single nucleotide variant Uncertain significance rs570770626 GRCh37 Chromosome 12, 42858401: 42858401

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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