EPM1B
MCID: EPL207
MIFTS: 23

Epilepsy, Progressive Myoclonic, 1b (EPM1B)

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 1b

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

Name: Epilepsy, Progressive Myoclonic, 1b 58
Epilepsy, Progressive Myoclonic 1b 58 76 13
Epm1b 58 76
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 74

Characteristics:

OMIM:

58
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:

33
epilepsy, progressive myoclonic, 1b:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Progressive Myoclonic, 1b

UniProtKB/Swiss-Prot : 76 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 progressive myoclonus epilepsy, 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 tremor

Description from OMIM: 612437

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 1b

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 tremor 33 HP:0001337
3 generalized myoclonic seizures 33 HP:0002123
4 babinski sign 33 HP:0003487
5 dysmetria 33 HP:0001310
6 sensory axonal neuropathy 33 HP:0003390
7 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
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

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:

76
# 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 263)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh37 Chromosome 12, 42853845: 42853845
2 PRICKLE1 NM_153026.2(PRICKLE1): c.2262C> G (p.Leu754=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504104 GRCh38 Chromosome 12, 42460043: 42460043
3 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh38 Chromosome 12, 42465210: 42465210
4 PRICKLE1 NM_153026.2(PRICKLE1): c.824C> T (p.Thr275Met) single nucleotide variant Uncertain significance rs559947948 GRCh37 Chromosome 12, 42859012: 42859012
5 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh38 Chromosome 16, 2498333: 2498333
6 TBC1D24 NM_001199107.1(TBC1D24): c.1079G> T (p.Arg360Leu) single nucleotide variant Pathogenic rs765965968 GRCh37 Chromosome 16, 2548334: 2548334
7 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh37 Chromosome 12, 42862582: 42862582
8 PRICKLE1 NM_153026.2(PRICKLE1): c.434C> T (p.Ala145Val) single nucleotide variant Uncertain significance rs765119777 GRCh38 Chromosome 12, 42468780: 42468780
9 PRICKLE1 NM_153026.2(PRICKLE1): c.1435G> A (p.Gly479Arg) single nucleotide variant Uncertain significance rs570770626 GRCh37 Chromosome 12, 42858401: 42858401
10 PRICKLE1 NM_153026.2(PRICKLE1): c.1435G> A (p.Gly479Arg) single nucleotide variant Uncertain significance rs570770626 GRCh38 Chromosome 12, 42464599: 42464599
11 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh37 Chromosome 12, 42853891: 42853891
12 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh38 Chromosome 12, 42460089: 42460089
13 PRICKLE1 NM_153026.2(PRICKLE1): c.2404C> T (p.Pro802Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150545495 GRCh38 Chromosome 12, 42459901: 42459901
14 PRICKLE1 NM_153026.2(PRICKLE1): c.2404C> T (p.Pro802Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150545495 GRCh37 Chromosome 12, 42853703: 42853703
15 PRICKLE1 NM_153026.2(PRICKLE1): c.2269G> A (p.Glu757Lys) single nucleotide variant Uncertain significance rs145860632 GRCh37 Chromosome 12, 42853838: 42853838
16 PRICKLE1 NM_153026.2(PRICKLE1): c.2269G> A (p.Glu757Lys) single nucleotide variant Uncertain significance rs145860632 GRCh38 Chromosome 12, 42460036: 42460036
17 PRICKLE1 NM_153026.2(PRICKLE1): c.2155C> T (p.Arg719Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 42460150: 42460150
18 PRICKLE1 NM_153026.2(PRICKLE1): c.2155C> T (p.Arg719Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 42853952: 42853952
19 PRICKLE1 NM_153026.2(PRICKLE1): c.1888C> G (p.Gln630Glu) single nucleotide variant Uncertain significance rs200171609 GRCh38 Chromosome 12, 42460417: 42460417
20 PRICKLE1 NM_153026.2(PRICKLE1): c.1888C> G (p.Gln630Glu) single nucleotide variant Uncertain significance rs200171609 GRCh37 Chromosome 12, 42854219: 42854219
21 PRICKLE1 NM_153026.2(PRICKLE1): c.1676C> T (p.Ser559Leu) single nucleotide variant Uncertain significance rs771584708 GRCh38 Chromosome 12, 42460629: 42460629
22 PRICKLE1 NM_153026.2(PRICKLE1): c.1676C> T (p.Ser559Leu) single nucleotide variant Uncertain significance rs771584708 GRCh37 Chromosome 12, 42854431: 42854431
23 PRICKLE1 NM_153026.2(PRICKLE1): c.1639+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs550752320 GRCh38 Chromosome 12, 42464392: 42464392
24 PRICKLE1 NM_153026.2(PRICKLE1): c.1639+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs550752320 GRCh37 Chromosome 12, 42858194: 42858194
25 PRICKLE1 NM_153026.2(PRICKLE1): c.1547G> C (p.Trp516Ser) single nucleotide variant Uncertain significance rs139901494 GRCh38 Chromosome 12, 42464487: 42464487
26 PRICKLE1 NM_153026.2(PRICKLE1): c.1547G> C (p.Trp516Ser) single nucleotide variant Uncertain significance rs139901494 GRCh37 Chromosome 12, 42858289: 42858289
27 PRICKLE1 NM_153026.2(PRICKLE1): c.1360G> A (p.Glu454Lys) single nucleotide variant Uncertain significance rs748454609 GRCh38 Chromosome 12, 42464674: 42464674
28 PRICKLE1 NM_153026.2(PRICKLE1): c.1360G> A (p.Glu454Lys) single nucleotide variant Uncertain significance rs748454609 GRCh37 Chromosome 12, 42858476: 42858476
29 PRICKLE1 NM_153026.2(PRICKLE1): c.1222T> C (p.Trp408Arg) single nucleotide variant Uncertain significance rs376384105 GRCh38 Chromosome 12, 42464812: 42464812
30 PRICKLE1 NM_153026.2(PRICKLE1): c.1222T> C (p.Trp408Arg) single nucleotide variant Uncertain significance rs376384105 GRCh37 Chromosome 12, 42858614: 42858614
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.311G> A (p.Arg104Gln) single nucleotide variant Likely pathogenic rs113994140 GRCh37 Chromosome 12, 42863325: 42863325
40 PRICKLE1 NM_153026.2(PRICKLE1): c.311G> A (p.Arg104Gln) single nucleotide variant Likely pathogenic rs113994140 GRCh38 Chromosome 12, 42469523: 42469523
41 PRICKLE1 NM_153026.2(PRICKLE1): c.431G> A (p.Arg144His) single nucleotide variant Uncertain significance rs281865563 GRCh37 Chromosome 12, 42862585: 42862585
42 PRICKLE1 NM_153026.2(PRICKLE1): c.431G> A (p.Arg144His) single nucleotide variant Uncertain significance rs281865563 GRCh38 Chromosome 12, 42468783: 42468783
43 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh37 Chromosome 12, 42858422: 42858422
44 PRICKLE1 NM_153026.2(PRICKLE1): c.1414T> C (p.Tyr472His) single nucleotide variant Pathogenic rs281865564 GRCh38 Chromosome 12, 42464620: 42464620
45 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 GRCh37 Chromosome 12, 42858229: 42858229
46 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 GRCh38 Chromosome 12, 42464427: 42464427
47 PRICKLE1 NM_153026.2(PRICKLE1): c.1607C> T (p.Ser536Leu) single nucleotide variant Uncertain significance rs150766064 NCBI36 Chromosome 12, 41144496: 41144496
48 PRICKLE1 NM_153026.2(PRICKLE1): c.114G> A (p.Pro38=) single nucleotide variant Conflicting interpretations of pathogenicity rs141743294 GRCh37 Chromosome 12, 42866205: 42866205
49 PRICKLE1 NM_153026.2(PRICKLE1): c.114G> A (p.Pro38=) single nucleotide variant Conflicting interpretations of pathogenicity rs141743294 GRCh38 Chromosome 12, 42472403: 42472403
50 PRICKLE1 NM_153026.2(PRICKLE1): c.1902T> C (p.Ser634=) single nucleotide variant Benign rs3747562 GRCh37 Chromosome 12, 42854205: 42854205

Expression for Epilepsy, Progressive Myoclonic, 1b

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Pathways for Epilepsy, Progressive Myoclonic, 1b

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