EPM4
MCID: EPL199
MIFTS: 31

Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure (EPM4)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

Name: Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 57
Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 57 25 75 29 13 6
Action Myoclonus-Renal Failure Syndrome 57 25 59 75 73
Myoclonus-Nephropathy Syndrome 57 25 59 75
Epm4 57 25 59 75
Amrf 57 25 59 75
Epilepsy, Myoclonic, Progressive, Type 4, with or Without Renal Failure 40
Progressive Myoclonus Epilepsy with Renal Failure 25
Action Myoclonus-Renal Failure Syndrome; Amrf 57
Action Myoclonus - Renal Failure Syndrome 24
Familial Myoclonus with Renal Failure 25
Progressive Myoclonic Epilepsy Type 4 59

Characteristics:

Orphanet epidemiological data:

59
action myoclonus-renal failure syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive disorder
onset in teens to 20's
patients may present with either renal or neurologic symptoms
patients may become totally dependent for all activities of daily living
death occurs 10 to 20 years after onset
some patients do not develop renal failure


HPO:

32
epilepsy, progressive myoclonic, 4, with or without renal failure:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

OMIM : 57 The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (254900)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure, also known as epilepsy, progressive myoclonic 4, with or without renal failure, is related to myoclonus and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including gait ataxia, action tremor and static tremor. An important gene associated with Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure is SCARB2 (Scavenger Receptor Class B Member 2). Affiliated tissues include kidney and brain, and related phenotypes are dysarthria and dysphagia

Genetics Home Reference : 25 Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function.

UniProtKB/Swiss-Prot : 75 Epilepsy, progressive myoclonic 4, with or without renal failure: An autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.

GeneReviews: NBK333437

Related Diseases for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

Diseases related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoclonus 10.5
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 tremor 10.0

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
gait ataxia
intention tremor
action tremor
postural tremor
more
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
renal failure
collapsing glomerulopathy
more
Head And Neck Eyes:
horizontal saccades

Abdomen Gastrointestinal:
dysphagia

Laboratory Abnormalities:
proteinuria

Hematology:
thrombocytopenia (reported in 1 patient)


Clinical features from OMIM:

254900

Human phenotypes related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 dysphagia 32 HP:0002015
3 renal insufficiency 32 HP:0000083
4 proteinuria 32 HP:0000093
5 nephropathy 32 HP:0000112
6 myoclonus 32 HP:0001336
7 gait ataxia 32 HP:0002066
8 intention tremor 32 HP:0002080
9 thrombocytopenia 32 HP:0001873
10 nephrotic syndrome 32 HP:0000100
11 glomerulopathy 32 HP:0100820
12 postural tremor 32 HP:0002174
13 cerebellar atrophy 32 HP:0001272
14 focal segmental glomerulosclerosis 32 HP:0000097
15 generalized-onset seizure 32 HP:0002197

UMLS symptoms related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:


gait ataxia, action tremor, static tremor, myoclonus, action

MGI Mouse Phenotypes related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 8.62 FAM47E SCARB2

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure

Genetic Tests for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

Genetic tests related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 29 SCARB2

Anatomical Context for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

41
Kidney, Brain

Publications for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

Articles related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

# Title Authors Year
1
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. ( 27582254 )
2016
2
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis. ( 24212238 )
2014
3
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. ( 22767442 )
2012
4
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. ( 22032306 )
2011
5
Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults. ( 17030781 )
2006
6
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. ( 15364701 )
2004
7
Action myoclonus-renal failure syndrome: the definitive clinico-pathological description. ( 15385427 )
2004
8
Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology. ( 3946122 )
1986

Variations for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

75
# Symbol AA change Variation ID SNP ID
1 SCARB2 p.His363Asn VAR_066744 rs758857853

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCARB2 NM_005506.3(SCARB2): c.1239+1G> T single nucleotide variant Pathogenic rs727502772 GRCh38 Chromosome 4, 76166249: 76166249
2 SCARB2 NM_005506.3(SCARB2): c.1239+1G> T single nucleotide variant Pathogenic rs727502772 GRCh37 Chromosome 4, 77087402: 77087402
3 SCARB2 NM_005506.3(SCARB2): c.434_435dupAG (p.Trp146Serfs) duplication Pathogenic rs727502773 GRCh38 Chromosome 4, 76179694: 76179695
4 SCARB2 NM_005506.3(SCARB2): c.434_435dupAG (p.Trp146Serfs) duplication Pathogenic rs727502773 GRCh37 Chromosome 4, 77100847: 77100848
5 SCARB2 NM_005506.3(SCARB2): c.862C> T (p.Gln288Ter) single nucleotide variant Pathogenic rs121909118 GRCh37 Chromosome 4, 77095429: 77095429
6 SCARB2 NM_005506.3(SCARB2): c.862C> T (p.Gln288Ter) single nucleotide variant Pathogenic rs121909118 GRCh38 Chromosome 4, 76174276: 76174276
7 SCARB2 NM_005506.3(SCARB2): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs121909119 GRCh37 Chromosome 4, 77100749: 77100749
8 SCARB2 NM_005506.3(SCARB2): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs121909119 GRCh38 Chromosome 4, 76179596: 76179596
9 SCARB2 NM_005506.3(SCARB2): c.1114-2A> C single nucleotide variant Pathogenic rs727502781 GRCh38 Chromosome 4, 76168478: 76168478
10 SCARB2 NM_005506.3(SCARB2): c.1114-2A> C single nucleotide variant Pathogenic rs727502781 GRCh37 Chromosome 4, 77089631: 77089631
11 SCARB2 NM_005506.3(SCARB2): c.1258delG (p.Glu420Argfs) deletion Pathogenic rs727502782 GRCh38 Chromosome 4, 76163365: 76163365
12 SCARB2 NM_005506.3(SCARB2): c.1258delG (p.Glu420Argfs) deletion Pathogenic rs727502782 GRCh37 Chromosome 4, 77084518: 77084518
13 SCARB2 NM_005506.3(SCARB2): c.1187+2dupT duplication Pathogenic rs727502783 GRCh38 Chromosome 4, 76168401: 76168401
14 SCARB2 NM_005506.3(SCARB2): c.1187+2dupT duplication Pathogenic rs727502783 GRCh37 Chromosome 4, 77089554: 77089554
15 SCARB2 NM_005506.3(SCARB2): c.475A> G (p.Met159Val) single nucleotide variant Benign rs143655258 GRCh37 Chromosome 4, 77100807: 77100807
16 SCARB2 NM_005506.3(SCARB2): c.475A> G (p.Met159Val) single nucleotide variant Benign rs143655258 GRCh38 Chromosome 4, 76179654: 76179654
17 SCARB2 NM_005506.3(SCARB2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs200053119 GRCh38 Chromosome 4, 76181016: 76181016
18 SCARB2 NM_005506.3(SCARB2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs200053119 GRCh37 Chromosome 4, 77102169: 77102169
19 SCARB2 NM_005506.3(SCARB2): c.1412A> G (p.Glu471Gly) single nucleotide variant Pathogenic rs755903502 GRCh38 Chromosome 4, 76161738: 76161738
20 SCARB2 NM_005506.3(SCARB2): c.1412A> G (p.Glu471Gly) single nucleotide variant Pathogenic rs755903502 GRCh37 Chromosome 4, 77082891: 77082891
21 SCARB2 NM_005506.3(SCARB2): c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs) indel Pathogenic rs886041079 GRCh38 Chromosome 4, 76163233: 76163238
22 SCARB2 NM_005506.3(SCARB2): c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs) indel Pathogenic rs886041079 GRCh37 Chromosome 4, 77084386: 77084391
23 SCARB2 NM_005506.3(SCARB2): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs886041078 GRCh38 Chromosome 4, 76163353: 76163353
24 SCARB2 NM_005506.3(SCARB2): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs886041078 GRCh37 Chromosome 4, 77084506: 77084506
25 SCARB2 NM_005506.3(SCARB2): c.1087C> A (p.His363Asn) single nucleotide variant Pathogenic rs758857853 GRCh38 Chromosome 4, 76169893: 76169893
26 SCARB2 NM_005506.3(SCARB2): c.1087C> A (p.His363Asn) single nucleotide variant Pathogenic rs758857853 GRCh37 Chromosome 4, 77091046: 77091046
27 SCARB2 NM_005506.3(SCARB2): c.1015_1016insT (p.His341Thrfs) insertion Pathogenic rs886041077 GRCh38 Chromosome 4, 76169965: 76169965
28 SCARB2 NM_005506.3(SCARB2): c.1015_1016insT (p.His341Thrfs) insertion Pathogenic rs886041077 GRCh37 Chromosome 4, 77091118: 77091118
29 SCARB2 NM_005506.3(SCARB2): c.704+5G> A single nucleotide variant Pathogenic rs774271963 GRCh38 Chromosome 4, 76176432: 76176432
30 SCARB2 NM_005506.3(SCARB2): c.704+5G> A single nucleotide variant Pathogenic rs774271963 GRCh37 Chromosome 4, 77097585: 77097585
31 SCARB2 NM_005506.3(SCARB2): c.704+1G> C single nucleotide variant Pathogenic rs886041076 GRCh38 Chromosome 4, 76176436: 76176436
32 SCARB2 NM_005506.3(SCARB2): c.704+1G> C single nucleotide variant Pathogenic rs886041076 GRCh37 Chromosome 4, 77097589: 77097589
33 SCARB2 NM_005506.3(SCARB2): c.704+1G> A single nucleotide variant Pathogenic rs886041076 GRCh38 Chromosome 4, 76176436: 76176436
34 SCARB2 NM_005506.3(SCARB2): c.704+1G> A single nucleotide variant Pathogenic rs886041076 GRCh37 Chromosome 4, 77097589: 77097589
35 SCARB2 NM_005506.3(SCARB2): c.424-2A> C single nucleotide variant Pathogenic rs886041074 GRCh38 Chromosome 4, 76179707: 76179707
36 SCARB2 NM_005506.3(SCARB2): c.424-2A> C single nucleotide variant Pathogenic rs886041074 GRCh37 Chromosome 4, 77100860: 77100860
37 SCARB2 NM_005506.3(SCARB2): c.296delA (p.Asn99Ilefs) deletion Pathogenic rs886041073 GRCh38 Chromosome 4, 76181081: 76181081
38 SCARB2 NM_005506.3(SCARB2): c.296delA (p.Asn99Ilefs) deletion Pathogenic rs886041073 GRCh37 Chromosome 4, 77102234: 77102234
39 SCARB2 NM_005506.3(SCARB2): c.111delC (p.Ile37Metfs) deletion Pathogenic rs886041072 GRCh37 Chromosome 4, 77134586: 77134586
40 SCARB2 NM_005506.3(SCARB2): c.111delC (p.Ile37Metfs) deletion Pathogenic rs886041072 GRCh38 Chromosome 4, 76213433: 76213433
41 SCARB2 NM_005506.3(SCARB2): c.666_670delCCTTA (p.Tyr222Terfs) deletion Pathogenic rs886041075 GRCh38 Chromosome 4, 76176471: 76176475
42 SCARB2 NM_005506.3(SCARB2): c.666_670delCCTTA (p.Tyr222Terfs) deletion Pathogenic rs886041075 GRCh37 Chromosome 4, 77097624: 77097628
43 SCARB2 NM_005506.3(SCARB2): c.367dup (p.Gln123Profs) duplication Pathogenic GRCh37 Chromosome 4, 77102163: 77102163
44 SCARB2 NM_005506.3(SCARB2): c.367dup (p.Gln123Profs) duplication Pathogenic GRCh38 Chromosome 4, 76181010: 76181010

Expression for Epilepsy, Progressive Myoclonic, 4, with or Without Renal...

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