EPM5
MCID: PRG133
MIFTS: 14

Progressive Myoclonic Epilepsy Type 5 (EPM5)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Myoclonic Epilepsy Type 5

MalaCards integrated aliases for Progressive Myoclonic Epilepsy Type 5:

Name: Progressive Myoclonic Epilepsy Type 5 59
Progressive Myoclonus Epilepsy Type 5 59
Epilepsy, Progressive Myoclonic, 5 73
Pme Type 5 59
Epm5 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA402082
ICD10 via Orphanet 34 G40.3
UMLS 73 C3151194

Summaries for Progressive Myoclonic Epilepsy Type 5

MalaCards based summary : Progressive Myoclonic Epilepsy Type 5, also known as progressive myoclonus epilepsy type 5, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and epilepsy. An important gene associated with Progressive Myoclonic Epilepsy Type 5 is PRICKLE2 (Prickle Planar Cell Polarity Protein 2). Related phenotype is Effect on mitosis.

Symptoms & Phenotypes for Progressive Myoclonic Epilepsy Type 5

GenomeRNAi Phenotypes related to Progressive Myoclonic Epilepsy Type 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 8.62 POLG PRICKLE2

Drugs & Therapeutics for Progressive Myoclonic Epilepsy Type 5

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonic Epilepsy Type 5

Genetic Tests for Progressive Myoclonic Epilepsy Type 5

Anatomical Context for Progressive Myoclonic Epilepsy Type 5

Publications for Progressive Myoclonic Epilepsy Type 5

Variations for Progressive Myoclonic Epilepsy Type 5

ClinVar genetic disease variations for Progressive Myoclonic Epilepsy Type 5:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRICKLE2 NM_198859.3(PRICKLE2): c.443G> A (p.Arg148His) single nucleotide variant no interpretation for the single variant rs387906988 GRCh37 Chromosome 3, 64142995: 64142995
2 PRICKLE2 NM_198859.3(PRICKLE2): c.443G> A (p.Arg148His) single nucleotide variant no interpretation for the single variant rs387906988 GRCh38 Chromosome 3, 64157319: 64157319
3 PRICKLE2 NM_198859.3(PRICKLE2): c.457G> A (p.Val153Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139747674 GRCh37 Chromosome 3, 64142981: 64142981
4 PRICKLE2 NM_198859.3(PRICKLE2): c.457G> A (p.Val153Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139747674 GRCh38 Chromosome 3, 64157305: 64157305
5 PRICKLE2 NM_198859.3(PRICKLE2): c.1813G> T (p.Val605Phe) single nucleotide variant Pathogenic rs387906989 GRCh37 Chromosome 3, 64085449: 64085449
6 PRICKLE2 NM_198859.3(PRICKLE2): c.1813G> T (p.Val605Phe) single nucleotide variant Pathogenic rs387906989 GRCh38 Chromosome 3, 64099773: 64099773
7 PRICKLE2 NM_198859.3(PRICKLE2): c.144+10T> C single nucleotide variant Benign rs74535153 GRCh37 Chromosome 3, 64184450: 64184450
8 PRICKLE2 NM_198859.3(PRICKLE2): c.144+10T> C single nucleotide variant Benign rs74535153 GRCh38 Chromosome 3, 64198774: 64198774
9 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh37 Chromosome 3, 64132615: 64132615
10 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh38 Chromosome 3, 64146939: 64146939
11 PRICKLE2 NM_198859.3(PRICKLE2): c.816T> C (p.Asp272=) single nucleotide variant Benign rs27673 GRCh37 Chromosome 3, 64133350: 64133350
12 PRICKLE2 NM_198859.3(PRICKLE2): c.816T> C (p.Asp272=) single nucleotide variant Benign rs27673 GRCh38 Chromosome 3, 64147674: 64147674
13 PRICKLE2 NM_198859.3(PRICKLE2): c.444C> T (p.Arg148=) single nucleotide variant Benign/Likely benign rs146538069 GRCh37 Chromosome 3, 64142994: 64142994
14 PRICKLE2 NM_198859.3(PRICKLE2): c.444C> T (p.Arg148=) single nucleotide variant Benign/Likely benign rs146538069 GRCh38 Chromosome 3, 64157318: 64157318
15 PRICKLE2 NM_198859.3(PRICKLE2): c.788-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180903875 GRCh37 Chromosome 3, 64133384: 64133384
16 PRICKLE2 NM_198859.3(PRICKLE2): c.788-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180903875 GRCh38 Chromosome 3, 64147708: 64147708
17 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh37 Chromosome 3, 64145632: 64145632
18 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh38 Chromosome 3, 64159956: 64159956
19 PRICKLE2 NM_198859.3(PRICKLE2): c.2103G> T (p.Leu701=) single nucleotide variant Conflicting interpretations of pathogenicity rs200220646 GRCh37 Chromosome 3, 64085159: 64085159
20 PRICKLE2 NM_198859.3(PRICKLE2): c.2103G> T (p.Leu701=) single nucleotide variant Conflicting interpretations of pathogenicity rs200220646 GRCh38 Chromosome 3, 64099483: 64099483
21 PRICKLE2 NM_198859.3(PRICKLE2): c.1035C> G (p.Gly345=) single nucleotide variant Benign rs34084584 GRCh37 Chromosome 3, 64133131: 64133131
22 PRICKLE2 NM_198859.3(PRICKLE2): c.1035C> G (p.Gly345=) single nucleotide variant Benign rs34084584 GRCh38 Chromosome 3, 64147455: 64147455
23 PRICKLE2 NM_198859.3(PRICKLE2): c.690C> T (p.Gly230=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338942 GRCh38 Chromosome 3, 64153279: 64153279
24 PRICKLE2 NM_198859.3(PRICKLE2): c.690C> T (p.Gly230=) single nucleotide variant Conflicting interpretations of pathogenicity rs144338942 GRCh37 Chromosome 3, 64138955: 64138955
25 PRICKLE2 NM_198859.3(PRICKLE2): c.1527G> A (p.Glu509=) single nucleotide variant Benign rs144455095 GRCh37 Chromosome 3, 64132639: 64132639
26 PRICKLE2 NM_198859.3(PRICKLE2): c.1527G> A (p.Glu509=) single nucleotide variant Benign rs144455095 GRCh38 Chromosome 3, 64146963: 64146963
27 PRICKLE2 NM_198859.3(PRICKLE2): c.594C> T (p.Cys198=) single nucleotide variant Likely benign rs367680077 GRCh37 Chromosome 3, 64142844: 64142844
28 PRICKLE2 NM_198859.3(PRICKLE2): c.594C> T (p.Cys198=) single nucleotide variant Likely benign rs367680077 GRCh38 Chromosome 3, 64157168: 64157168
29 PRICKLE2 NM_198859.3(PRICKLE2): c.445G> T (p.Ala149Ser) single nucleotide variant Uncertain significance rs202025796 GRCh37 Chromosome 3, 64142993: 64142993
30 PRICKLE2 NM_198859.3(PRICKLE2): c.445G> T (p.Ala149Ser) single nucleotide variant Uncertain significance rs202025796 GRCh38 Chromosome 3, 64157317: 64157317
31 PRICKLE2 NM_198859.3(PRICKLE2): c.670G> A (p.Glu224Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 64138975: 64138975
32 PRICKLE2 NM_198859.3(PRICKLE2): c.670G> A (p.Glu224Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 64153299: 64153299
33 PRICKLE2 NM_198859.3(PRICKLE2): c.481G> A (p.Val161Ile) single nucleotide variant Uncertain significance rs773419206 GRCh38 Chromosome 3, 64157281: 64157281
34 PRICKLE2 NM_198859.3(PRICKLE2): c.481G> A (p.Val161Ile) single nucleotide variant Uncertain significance rs773419206 GRCh37 Chromosome 3, 64142957: 64142957
35 PRICKLE2 NM_198859.3(PRICKLE2): c.461G> T (p.Cys154Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 64157301: 64157301
36 PRICKLE2 NM_198859.3(PRICKLE2): c.461G> T (p.Cys154Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 64142977: 64142977
37 PRICKLE2 NM_198859.3(PRICKLE2): c.1593G> A (p.Glu531=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 64146897: 64146897
38 PRICKLE2 NM_198859.3(PRICKLE2): c.1593G> A (p.Glu531=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 64132573: 64132573
39 PRICKLE2 NM_198859.3(PRICKLE2): c.1169G> A (p.Arg390Gln) single nucleotide variant Uncertain significance rs773493989 GRCh38 Chromosome 3, 64147321: 64147321
40 PRICKLE2 NM_198859.3(PRICKLE2): c.1169G> A (p.Arg390Gln) single nucleotide variant Uncertain significance rs773493989 GRCh37 Chromosome 3, 64132997: 64132997
41 PRICKLE2 NM_198859.3(PRICKLE2): c.454G> A (p.Gly152Ser) single nucleotide variant Uncertain significance rs199566606 GRCh37 Chromosome 3, 64142984: 64142984
42 PRICKLE2 NM_198859.3(PRICKLE2): c.454G> A (p.Gly152Ser) single nucleotide variant Uncertain significance rs199566606 GRCh38 Chromosome 3, 64157308: 64157308
43 PRICKLE2 NM_198859.3(PRICKLE2): c.1602G> A (p.Thr534=) single nucleotide variant Likely benign rs144757200 GRCh38 Chromosome 3, 64146888: 64146888
44 PRICKLE2 NM_198859.3(PRICKLE2): c.1602G> A (p.Thr534=) single nucleotide variant Likely benign rs144757200 GRCh37 Chromosome 3, 64132564: 64132564
45 PRICKLE2 NM_198859.3(PRICKLE2): c.2455C> T (p.Pro819Ser) single nucleotide variant Uncertain significance rs972442832 GRCh37 Chromosome 3, 64084807: 64084807
46 PRICKLE2 NM_198859.3(PRICKLE2): c.2455C> T (p.Pro819Ser) single nucleotide variant Uncertain significance rs972442832 GRCh38 Chromosome 3, 64099131: 64099131
47 PRICKLE2 NM_198859.3(PRICKLE2): c.471G> A (p.Pro157=) single nucleotide variant Likely benign rs777067889 GRCh37 Chromosome 3, 64142967: 64142967
48 PRICKLE2 NM_198859.3(PRICKLE2): c.471G> A (p.Pro157=) single nucleotide variant Likely benign rs777067889 GRCh38 Chromosome 3, 64157291: 64157291
49 PRICKLE2 NM_198859.3(PRICKLE2): c.438G> A (p.Ala146=) single nucleotide variant Benign/Likely benign rs149786687 GRCh37 Chromosome 3, 64143000: 64143000
50 PRICKLE2 NM_198859.3(PRICKLE2): c.438G> A (p.Ala146=) single nucleotide variant Benign/Likely benign rs149786687 GRCh38 Chromosome 3, 64157324: 64157324

Expression for Progressive Myoclonic Epilepsy Type 5

Search GEO for disease gene expression data for Progressive Myoclonic Epilepsy Type 5.

Pathways for Progressive Myoclonic Epilepsy Type 5

GO Terms for Progressive Myoclonic Epilepsy Type 5

Sources for Progressive Myoclonic Epilepsy Type 5

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