EPM4
MCID: EPL199
MIFTS: 36

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

Categories: Ear diseases, Genetic diseases, Muscle 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 43 72 29 13 6
Action Myoclonus-Renal Failure Syndrome 57 43 58 72 70
Myoclonus-Nephropathy Syndrome 57 43 58 72
Epm4 57 43 58 72
Amrf 57 43 58 72
Epilepsy, Myoclonic, Progressive, Type 4, with or Without Renal Failure 39
Progressive Myoclonus Epilepsy with Renal Failure 43
Action Myoclonus-Renal Failure Syndrome; Amrf 57
Action Myoclonus - Renal Failure Syndrome 25
Familial Myoclonus with Renal Failure 43
Progressive Myoclonic Epilepsy Type 4 58
Progressive Myoclonus Epilepsy Type 4 58

Characteristics:

Orphanet epidemiological data:

58
action myoclonus-renal failure syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
epilepsy, progressive myoclonic, 4, with or without renal failure:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases


External Ids:

OMIM® 57 254900
OMIM Phenotypic Series 57 PS254800
MeSH 44 D020191
UMLS via Orphanet 71 C0751779
Orphanet 58 ORPHA163696
MedGen 41 C0751779
UMLS 70 C0751779

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

MedlinePlus Genetics : 43 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.The movement problems associated with AMRF syndrome typically begin with involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at rest and is most noticeable when trying to make small movements, such as writing. Over time, tremors can affect other parts of the body, such as the head, torso, legs, and tongue. Eventually, the tremors worsen to become myoclonic jerks, which can be triggered by voluntary movements or the intention to move (action myoclonus). These myoclonic jerks typically occur in the torso; upper and lower limbs; and face, particularly the muscles around the mouth and the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can worsen the myoclonus. Some affected individuals develop seizures, a loss of sensation and weakness in the limbs (peripheral neuropathy), or hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss). Severe seizures or myoclonus can be life-threatening.When kidney problems occur, an early sign is excess protein in the urine (proteinuria). Kidney function worsens over time, until the kidneys are no longer able to filter fluids and waste products from the body effectively (end-stage renal disease).AMRF syndrome typically begins causing symptoms between ages 15 and 25, but it can appear at younger or older ages. The age of onset and the course of the condition vary, even among members of the same family. Either the movement problems or kidney disease can occur first, or they can begin at the same time. Most people survive 7 to 15 years after the symptoms appear.

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 progressive myoclonus epilepsy 4 and myoclonus, 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, tongue and brain, and related phenotypes are dysarthria and dysphagia

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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...

Graphical network of the top 20 diseases related to Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure:



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

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

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 dysphagia 31 HP:0002015
3 proteinuria 31 HP:0000093
4 nephropathy 31 HP:0000112
5 renal insufficiency 31 HP:0000083
6 myoclonus 31 HP:0001336
7 thrombocytopenia 31 HP:0001873
8 nephrotic syndrome 31 HP:0000100
9 glomerulopathy 31 HP:0100820
10 gait ataxia 31 HP:0002066
11 cerebellar atrophy 31 HP:0001272
12 generalized-onset seizure 31 HP:0002197
13 intention tremor 31 HP:0002080
14 postural tremor 31 HP:0002174
15 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
intention 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 (Updated 05-Apr-2021)

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


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

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:

40
Kidney, Tongue, Brain, Skeletal Muscle, Skin

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

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

(show top 50) (show all 84)
# Title Authors PMID Year
1
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 57 6 25
21670406 2011
2
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 57 6 25
19847901 2009
3
Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome. 6 57 25
19597094 2009
4
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 57 25 6
18424452 2008
5
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. 57 6 25
18308289 2008
6
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. 6 57 25
15364701 2004
7
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2. 6 25
24620919 2014
8
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 25 6
23659519 2014
9
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 25 6
24485911 2014
10
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 25 6
23325613 2013
11
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 6 25
23225201 2012
12
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. 6 25
22767442 2012
13
A mutation in SCARB2 is a modifier in Gaucher disease. 6 25
21796727 2011
14
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. 25 6
22032306 2011
15
Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults. 57 25
17030781 2006
16
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 6
24339182 2014
17
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. 6
19454373 2009
18
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25
25401298 2015
19
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. 25
24566826 2014
20
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. 25
23955123 2013
21
Lysosomal storage diseases--the horizon expands. 25
23938739 2013
22
Classification and natural history of the neuronal ceroid lipofuscinoses. 25
23838030 2013
23
Clinical aspects of juvenile myoclonic epilepsy. 25
23756488 2013
24
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 25
22978711 2013
25
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 25
23518707 2013
26
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 25
23297359 2013
27
Functional comparison of SCARB2 and PSGL1 as receptors for enterovirus 71. 25
23302872 2013
28
Mitochondrial diseases and epilepsy. 25
22946726 2012
29
Epilepsy in mitochondrial disorders. 25
22459315 2012
30
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 25
22608501 2012
31
Human SCARB2-dependent infection by coxsackievirus A7, A14, and A16 and enterovirus 71. 25
22438546 2012
32
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. 25
22491192 2012
33
Scavenger receptor b2 as a receptor for hand, foot, and mouth disease and severe neurological diseases. 25
22363322 2012
34
Dentatorubral-pallidoluysian atrophy. 25
21827919 2012
35
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. 25
22050460 2011
36
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 25
22187985 2011
37
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. 25
21782476 2011
38
Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. 25
21435071 2011
39
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 25
21820099 2011
40
Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. 25
21426326 2011
41
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 25
21549341 2011
42
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 25
21276947 2011
43
Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. 25
20974551 2010
44
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 25
20548044 2010
45
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 25
20157158 2010
46
Unverricht-Lundborg disease (EPM1). 25
20331711 2010
47
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase. 25
19933215 2010
48
Scavenger receptor B2 is a cellular receptor for enterovirus 71. 25
19543282 2009
49
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology. 25
19383612 2009
50
Sorting of lysosomal proteins. 25
19046998 2009

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

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

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCARB2 NM_005506.4(SCARB2):c.1239+1G>T SNV Pathogenic 7376 rs727502772 GRCh37: 4:77087402-77087402
GRCh38: 4:76166249-76166249
2 SCARB2 NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) SNV Pathogenic 7379 rs121909119 GRCh37: 4:77100749-77100749
GRCh38: 4:76179596-76179596
3 SCARB2 NM_005506.4(SCARB2):c.1114-2A>C SNV Pathogenic 30257 rs727502781 GRCh37: 4:77089631-77089631
GRCh38: 4:76168478-76168478
4 SCARB2 NM_005506.4(SCARB2):c.1258del (p.Glu420fs) Deletion Pathogenic 30258 rs727502782 GRCh37: 4:77084518-77084518
GRCh38: 4:76163365-76163365
5 SCARB2 NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly) SNV Pathogenic 268148 rs755903502 GRCh37: 4:77082891-77082891
GRCh38: 4:76161738-76161738
6 SCARB2 NM_005506.4(SCARB2):c.704+1G>C SNV Pathogenic 268140 rs886041076 GRCh37: 4:77097589-77097589
GRCh38: 4:76176436-76176436
7 SCARB2 NM_005506.4(SCARB2):c.111del (p.Ile37fs) Deletion Pathogenic 268135 rs886041072 GRCh37: 4:77134586-77134586
GRCh38: 4:76213433-76213433
8 SCARB2 NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) SNV Pathogenic 268146 rs886041078 GRCh37: 4:77084506-77084506
GRCh38: 4:76163353-76163353
9 SCARB2 NM_005506.4(SCARB2):c.424-2A>C SNV Pathogenic 268137 rs886041074 GRCh37: 4:77100860-77100860
GRCh38: 4:76179707-76179707
10 SCARB2 NM_005506.4(SCARB2):c.1087C>A (p.His363Asn) SNV Pathogenic 268143 rs758857853 GRCh37: 4:77091046-77091046
GRCh38: 4:76169893-76169893
11 SCARB2 NM_005506.4(SCARB2):c.296del (p.Asn99fs) Deletion Pathogenic 268136 rs886041073 GRCh37: 4:77102234-77102234
GRCh38: 4:76181081-76181081
12 SCARB2 NM_005506.4(SCARB2):c.704+1G>A SNV Pathogenic 268139 rs886041076 GRCh37: 4:77097589-77097589
GRCh38: 4:76176436-76176436
13 SCARB2 NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) Deletion Pathogenic 268138 rs886041075 GRCh37: 4:77097624-77097628
GRCh38: 4:76176471-76176475
14 SCARB2 NM_005506.4(SCARB2):c.1016dup (p.His341fs) Duplication Pathogenic 268142 rs886041077 GRCh37: 4:77091116-77091117
GRCh38: 4:76169963-76169964
15 SCARB2 NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs) Indel Pathogenic 268147 rs886041079 GRCh37: 4:77084386-77084391
GRCh38: 4:76163233-76163238
16 SCARB2 NM_005506.4(SCARB2):c.367dup (p.Gln123fs) Duplication Pathogenic 453288 rs1553948516 GRCh37: 4:77102162-77102163
GRCh38: 4:76181009-76181010
17 SCARB2 NM_005506.4(SCARB2):c.134del (p.Asn45fs) Deletion Pathogenic 807488 rs1578733075 GRCh37: 4:77117001-77117001
GRCh38: 4:76195848-76195848
18 SCARB2 NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) Microsatellite Pathogenic 7377 rs727502773 GRCh37: 4:77100846-77100847
GRCh38: 4:76179693-76179694
19 SCARB2 NM_005506.4(SCARB2):c.1187+2dup Duplication Pathogenic 30259 rs727502783 GRCh37: 4:77089553-77089554
GRCh38: 4:76168400-76168401
20 SCARB2 NM_005506.4(SCARB2):c.704+5G>A SNV Pathogenic 268141 rs774271963 GRCh37: 4:77097585-77097585
GRCh38: 4:76176432-76176432
21 SCARB2 NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) SNV Pathogenic 7378 rs121909118 GRCh37: 4:77095429-77095429
GRCh38: 4:76174276-76174276
22 SCARB2 NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) SNV Likely pathogenic 206709 rs200053119 GRCh37: 4:77102169-77102169
GRCh38: 4:76181016-76181016
23 SCARB2 NM_005506.4(SCARB2):c.108dup (p.Ile37fs) Duplication Likely pathogenic 993025 GRCh37: 4:77134588-77134589
GRCh38: 4:76213435-76213436
24 SCARB2 NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) SNV Uncertain significance 418468 rs142392473 GRCh37: 4:77095372-77095372
GRCh38: 4:76174219-76174219
25 SCARB2 NM_005506.4(SCARB2):c.445G>A (p.Val149Met) SNV Uncertain significance 206701 rs147159813 GRCh37: 4:77100837-77100837
GRCh38: 4:76179684-76179684
26 SCARB2 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) SNV Uncertain significance 196412 rs143558324 GRCh37: 4:77102148-77102148
GRCh38: 4:76180995-76180995
27 SCARB2 NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) SNV Uncertain significance 206715 rs147324129 GRCh37: 4:77091123-77091123
GRCh38: 4:76169970-76169970
28 SCARB2 NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) SNV Uncertain significance 449847 rs148022786 GRCh37: 4:77102151-77102151
GRCh38: 4:76180998-76180998
29 SCARB2 NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) SNV Uncertain significance 449287 rs117600063 GRCh37: 4:77100852-77100852
GRCh38: 4:76179699-76179699
30 SCARB2 NM_005506.4(SCARB2):c.475A>G (p.Met159Val) SNV Benign 206702 rs143655258 GRCh37: 4:77100807-77100807
GRCh38: 4:76179654-76179654

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

72
# Symbol AA change Variation ID SNP ID
1 SCARB2 p.His363Asn VAR_066744 rs758857853

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

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