MCID: EPL207
MIFTS: 23

Epilepsy, Progressive Myoclonic, 1b

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 1b

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 1b:

Name: Epilepsy, Progressive Myoclonic, 1b 57
Epilepsy, Progressive Myoclonic 1b 57 75 13
Epm1b 57 75
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of ataxia in early childhood (range 15 months to 3 years)
onset of seizures in later childhood (5 to 10 years)
two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)


HPO:

32
epilepsy, progressive myoclonic, 1b:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Progressive Myoclonic, 1b

UniProtKB/Swiss-Prot : 75 Epilepsy, progressive myoclonic 1B: An autosomal recessive disorder characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 1b, also known as epilepsy, progressive myoclonic 1b, is related to prickle1-related progressive myoclonus epilepsy with ataxia and unverricht-lundborg syndrome, and has symptoms including fine tremor An important gene associated with Epilepsy, Progressive Myoclonic, 1b is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). Related phenotypes are dysarthria and dysmetria

Description from OMIM: 612437

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 1b

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dysmetria
atonic seizures
extensor plantar responses
tonic-clonic seizures
more
Head And Neck Eyes:
upward gaze palsy

Neurologic Peripheral Nervous System:
axonal sensory neuropathy


Clinical features from OMIM:

612437

Human phenotypes related to Epilepsy, Progressive Myoclonic, 1b:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 dysmetria 32 HP:0001310
3 tremor 32 HP:0001337
4 generalized myoclonic seizures 32 HP:0002123
5 sensory axonal neuropathy 32 HP:0003390
6 babinski sign 32 HP:0003487
7 atonic seizures 32 HP:0010819

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 1b:


fine tremor

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 1b

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 1b

Genetic Tests for Epilepsy, Progressive Myoclonic, 1b

Anatomical Context for Epilepsy, Progressive Myoclonic, 1b

Publications for Epilepsy, Progressive Myoclonic, 1b

Articles related to Epilepsy, Progressive Myoclonic, 1b:

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

Variations for Epilepsy, Progressive Myoclonic, 1b

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 1b:

75
# Symbol AA change Variation ID SNP ID
1 PRICKLE1 p.Arg104Gln VAR_054663 rs113994140
2 PRICKLE1 p.Arg144His VAR_065580 rs281865563
3 PRICKLE1 p.Tyr472His VAR_065581 rs281865564

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 1b:

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 Epilepsy, Progressive Myoclonic, 1b

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 1b.

Pathways for Epilepsy, Progressive Myoclonic, 1b

GO Terms for Epilepsy, Progressive Myoclonic, 1b

Sources for Epilepsy, Progressive Myoclonic, 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....