MCID: PRC020
MIFTS: 21

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 25 43 70
Progressive Myoclonus Epilepsy with Ataxia 43 29 6
Epm1b 25 43
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia 43
Progressive Myoclonic Epilepsy 1b 43
Pme with Ataxia 43

Characteristics:

GeneReviews:

25
Penetrance Complete penetrance was observed in the original families studied.

External Ids:

UMLS 70 C2676254

Summaries for Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia

MedlinePlus Genetics : 43 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.Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria).Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping.PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.

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). Related phenotype is hearing/vestibular/ear.

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 31.9 TBC1D24 PRICKLE1
2 progressive myoclonus epilepsy 30.1 TBC1D24 PRICKLE1
3 myoclonic epilepsy of unverricht and lundborg 30.0 TBC1D24 PRICKLE1
4 unverricht-lundborg syndrome 29.9 TBC1D24 PRICKLE1
5 epilepsy 29.7 TBC1D24 PRICKLE1
6 progressive myoclonus epilepsy 1b 11.0
7 ataxia and polyneuropathy, adult-onset 10.3
8 myoclonus epilepsy 10.3
9 myoclonus 10.3
10 benign epilepsy with centrotemporal spikes 9.5 TBC1D24 PRICKLE1

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

MGI Mouse Phenotypes related to Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 PRICKLE1 TBC1D24

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:

(show all 13)
# Title Authors PMID Year
1
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6 25
21276947 2011
2
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 25 6
18976727 2008
3
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia 6 61
20301774 2009
4
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
5
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 6
26378787 2016
6
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. 25
22032306 2011
7
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 25
21549339 2011
8
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 25
19847901 2009
9
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. 25
16376507 2006
10
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. 25
15642921 2005
11
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. 25
6137660 1983
12
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. 61
25060828 2014
13
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. 61
15742102 2005

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 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRICKLE1 NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) SNV Pathogenic 30730 rs281865564 GRCh37: 12:42858422-42858422
GRCh38: 12:42464620-42464620
2 PRICKLE1 NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) SNV Pathogenic 30729 rs281865563 GRCh37: 12:42862585-42862585
GRCh38: 12:42468783-42468783
3 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) SNV Pathogenic 183157 rs765965968 GRCh37: 16:2548334-2548334
GRCh38: 16:2498333-2498333
4 PRICKLE1 NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 2283 rs113994140 GRCh37: 12:42863325-42863325
GRCh38: 12:42469523-42469523
5 PRICKLE1 Deletion Likely pathogenic 243056 GRCh37: 12:42870202-42899456
GRCh38: 12:42476400-42505654
6 PRICKLE1 NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) SNV Likely pathogenic 982781 GRCh37: 12:42866191-42866191
GRCh38: 12:42472389-42472389
7 PRICKLE1 NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) SNV Uncertain significance 588178 rs1443820017 GRCh37: 12:42860072-42860072
GRCh38: 12:42466270-42466270
8 PRICKLE1 NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) SNV Uncertain significance 588440 rs751021008 GRCh37: 12:42854003-42854003
GRCh38: 12:42460201-42460201
9 PRICKLE1 NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) SNV Uncertain significance 167530 rs727504104 GRCh37: 12:42853845-42853845
GRCh38: 12:42460043-42460043
10 PRICKLE1 NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) SNV Uncertain significance 206652 rs35731866 GRCh37: 12:42862625-42862625
GRCh38: 12:42468823-42468823
11 PRICKLE1 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) SNV Uncertain significance 198918 rs138452760 GRCh37: 12:42853891-42853891
GRCh38: 12:42460089-42460089
12 PRICKLE1 NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) SNV Uncertain significance 206655 rs145860632 GRCh37: 12:42853838-42853838
GRCh38: 12:42460036-42460036
13 PRICKLE1 NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) SNV Uncertain significance 206667 rs748454609 GRCh37: 12:42858476-42858476
GRCh38: 12:42464674-42464674
14 PRICKLE1 NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) SNV Uncertain significance 206659 rs377668062 GRCh37: 12:42866187-42866187
GRCh38: 12:42472385-42472385
15 PRICKLE1 NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) SNV Uncertain significance 206657 rs566073131 GRCh37: 12:42866294-42866294
GRCh38: 12:42472492-42472492
16 PRICKLE1 NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) SNV Uncertain significance 449601 rs1555230175 GRCh37: 12:42858983-42858983
GRCh38: 12:42465181-42465181
17 PRICKLE1 NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) SNV Uncertain significance 198920 rs369790443 GRCh37: 12:42854002-42854002
GRCh38: 12:42460200-42460200
18 PRICKLE1 NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) SNV Uncertain significance 206664 rs748636455 GRCh37: 12:42858691-42858691
GRCh38: 12:42464889-42464889
19 PRICKLE1 NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) SNV Uncertain significance 998400 GRCh37: 12:42858241-42858241
GRCh38: 12:42464439-42464439
20 PRICKLE1 NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp) SNV Uncertain significance 999409 GRCh37: 12:42858663-42858663
GRCh38: 12:42464861-42464861
21 PRICKLE1 NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn) SNV Uncertain significance 999665 GRCh37: 12:42854319-42854319
GRCh38: 12:42460517-42460517
22 PRICKLE1 NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val) SNV Uncertain significance 1000177 GRCh37: 12:42854000-42854000
GRCh38: 12:42460198-42460198
23 PRICKLE1 NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg) SNV Uncertain significance 1000408 GRCh37: 12:42854239-42854239
GRCh38: 12:42460437-42460437
24 PRICKLE1 NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His) SNV Uncertain significance 1002582 GRCh37: 12:42858596-42858596
GRCh38: 12:42464794-42464794
25 PRICKLE1 NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) SNV Uncertain significance 1002752 GRCh37: 12:42854062-42854062
GRCh38: 12:42460260-42460260
26 PRICKLE1 NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=) SNV Uncertain significance 1003242 GRCh37: 12:42858393-42858393
GRCh38: 12:42464591-42464591
27 PRICKLE1 NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser) SNV Uncertain significance 1003430 GRCh37: 12:42854188-42854188
GRCh38: 12:42460386-42460386
28 PRICKLE1 NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile) SNV Uncertain significance 1005603 GRCh37: 12:42866292-42866292
GRCh38: 12:42472490-42472490
29 PRICKLE1 NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp) SNV Uncertain significance 1006635 GRCh37: 12:42863386-42863386
GRCh38: 12:42469584-42469584
30 PRICKLE1 NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs) Duplication Uncertain significance 1006994 GRCh37: 12:42858886-42858887
GRCh38: 12:42465084-42465085
31 PRICKLE1 NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg) SNV Uncertain significance 1008065 GRCh37: 12:42853841-42853841
GRCh38: 12:42460039-42460039
32 PRICKLE1 NC_000012.11:g.(?_42853591)_(42866338_?)dup Duplication Uncertain significance 1008525 GRCh37: 12:42853591-42866338
GRCh38:
33 PRICKLE1 NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr) SNV Uncertain significance 1010504 GRCh37: 12:42860181-42860181
GRCh38: 12:42466379-42466379
34 PRICKLE1 NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser) SNV Uncertain significance 1011686 GRCh37: 12:42866276-42866276
GRCh38: 12:42472474-42472474
35 PRICKLE1 NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) SNV Uncertain significance 241996 rs143240342 GRCh37: 12:42853791-42853791
GRCh38: 12:42459989-42459989
36 PRICKLE1 NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) SNV Uncertain significance 308708 rs146650383 GRCh37: 12:42862581-42862581
GRCh38: 12:42468779-42468779
37 PRICKLE1 NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) SNV Uncertain significance 206670 rs139901494 GRCh37: 12:42858289-42858289
GRCh38: 12:42464487-42464487
38 PRICKLE1 NM_153026.3(PRICKLE1):c.1639+5G>A SNV Uncertain significance 537241 rs201450953 GRCh37: 12:42858192-42858192
GRCh38: 12:42464390-42464390
39 PRICKLE1 NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) SNV Uncertain significance 537242 rs754218148 GRCh37: 12:42860103-42860103
GRCh38: 12:42466301-42466301
40 PRICKLE1 NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) SNV Uncertain significance 568656 rs777597253 GRCh37: 12:42858424-42858424
GRCh38: 12:42464622-42464622
41 PRICKLE1 NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) SNV Uncertain significance 206666 rs376384105 GRCh37: 12:42858614-42858614
GRCh38: 12:42464812-42464812
42 PRICKLE1 NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) SNV Uncertain significance 640149 rs141795695 GRCh37: 12:42864088-42864088
GRCh38: 12:42470286-42470286
43 PRICKLE1 NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu) SNV Uncertain significance 834223 GRCh37: 12:42858506-42858506
GRCh38: 12:42464704-42464704
44 PRICKLE1 NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) SNV Uncertain significance 840635 GRCh37: 12:42860170-42860170
GRCh38: 12:42466368-42466368
45 PRICKLE1 NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg) SNV Uncertain significance 841682 GRCh37: 12:42854300-42854300
GRCh38: 12:42460498-42460498
46 PRICKLE1 NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg) SNV Uncertain significance 844007 GRCh37: 12:42859031-42859031
GRCh38: 12:42465229-42465229
47 PRICKLE1 NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser) SNV Uncertain significance 858528 GRCh37: 12:42858205-42858205
GRCh38: 12:42464403-42464403
48 PRICKLE1 NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) SNV Uncertain significance 284893 rs374621616 GRCh37: 12:42854185-42854185
GRCh38: 12:42460383-42460383
49 PRICKLE1 NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe) SNV Uncertain significance 944481 GRCh37: 12:42862555-42862555
GRCh38: 12:42468753-42468753
50 PRICKLE1 NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) SNV Uncertain significance 500189 rs375197568 GRCh37: 12:42860068-42860068
GRCh38: 12:42466266-42466266

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
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31 HPO
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