EPM1B
MCID: EPL207
MIFTS: 22

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

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.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/Likely benign rs139421676 GRCh37 Chromosome 12, 42858882: 42858882
37 PRICKLE1 NM_153026.2(PRICKLE1): c.954C> G (p.Ser318=) single nucleotide variant Benign/Likely 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 Epilepsy, Progressive Myoclonic, 1b

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