MCID: EPL108
MIFTS: 26

Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure

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

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

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

Name: Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 54 25 71 29 13
Action Myoclonus-Renal Failure Syndrome 25 56 71 69
Myoclonus-Nephropathy Syndrome 25 56 71
Epm4 25 56 71
Amrf 25 71
Progressive Myoclonic Epilepsy 4 with or Without Renal Failure 24
Progressive Myoclonus Epilepsy with Renal Failure 25
Action Myoclonus - Renal Failure Syndrome 23
Familial Myoclonus with Renal Failure 25
Progressive Myoclonic Epilepsy Type 4 56
Epm4, Myoclonus-Nephropathy Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
action myoclonus-renal failure syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

54
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 Failure

OMIM : 54
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 action myoclonus-renal failure syndrome, is related to myoclonus and tremor, and has symptoms including dysphagia, myoclonus and dysarthria. 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 brain.

UniProtKB/Swiss-Prot : 71 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 Failure

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

id Related Disease Score Top Affiliating Genes
1 myoclonus 10.2
2 tremor 9.8

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

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Genitourinary- Kidneys:
renal failure
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
collapsing glomerulopathy
more
Head And Neck- Eyes:
horizontal saccades

Neurologic- Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
postural tremor
intention tremor
more
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 14)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 myoclonus 32 HP:0001336
3 dysarthria 32 HP:0001260
4 generalized seizures 32 HP:0002197
5 thrombocytopenia 32 HP:0001873
6 proteinuria 32 HP:0000093
7 renal insufficiency 32 HP:0000083
8 gait ataxia 32 HP:0002066
9 cerebellar atrophy 32 HP:0001272
10 nephrotic syndrome 32 HP:0000100
11 focal segmental glomerulosclerosis 32 HP:0000097
12 postural tremor 32 HP:0002174
13 intention tremor 32 HP:0002080
14 nephropathy 32 HP:0000112

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


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

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

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 Failure

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

id Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 29
2 Progressive Myoclonic Epilepsy 4 with or Without Renal Failure 24 SCARB2

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

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

39
Brain

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

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

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

71
id 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 20)
id 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.434_435dupAG (p.Trp146Serfs) duplication Pathogenic rs727502773 GRCh38 Chromosome 4, 76179694: 76179695
3 SCARB2 NM_005506.3(SCARB2): c.862C> T (p.Gln288Ter) single nucleotide variant Pathogenic rs121909118 GRCh37 Chromosome 4, 77095429: 77095429
4 SCARB2 NM_005506.3(SCARB2): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs121909119 GRCh37 Chromosome 4, 77100749: 77100749
5 SCARB2 NM_005506.3(SCARB2): c.1114-2A> C single nucleotide variant Pathogenic rs727502781 GRCh38 Chromosome 4, 76168478: 76168478
6 SCARB2 NM_005506.3(SCARB2): c.1258delG (p.Glu420Argfs) deletion Pathogenic rs727502782 GRCh38 Chromosome 4, 76163365: 76163365
7 SCARB2 NM_005506.3(SCARB2): c.1187+2dupT duplication Pathogenic rs727502783 GRCh38 Chromosome 4, 76168401: 76168401
8 SCARB2 NM_005506.3(SCARB2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs200053119 GRCh38 Chromosome 4, 76181016: 76181016
9 SCARB2 NM_005506.3(SCARB2): c.1412A> G (p.Glu471Gly) single nucleotide variant Pathogenic rs755903502 GRCh38 Chromosome 4, 76161738: 76161738
10 SCARB2 NM_005506.3(SCARB2): c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs) indel Pathogenic rs886041079 GRCh38 Chromosome 4, 76163233: 76163238
11 SCARB2 NM_005506.3(SCARB2): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs886041078 GRCh38 Chromosome 4, 76163353: 76163353
12 SCARB2 NM_005506.3(SCARB2): c.1087C> A (p.His363Asn) single nucleotide variant Pathogenic rs758857853 GRCh38 Chromosome 4, 76169893: 76169893
13 SCARB2 NM_005506.3(SCARB2): c.1015_1016insT (p.His341Thrfs) insertion Pathogenic rs886041077 GRCh38 Chromosome 4, 76169965: 76169965
14 SCARB2 NM_005506.3(SCARB2): c.704+5G> A single nucleotide variant Pathogenic rs774271963 GRCh38 Chromosome 4, 76176432: 76176432
15 SCARB2 NM_005506.3(SCARB2): c.704+1G> C single nucleotide variant Pathogenic rs886041076 GRCh38 Chromosome 4, 76176436: 76176436
16 SCARB2 NM_005506.3(SCARB2): c.704+1G> A single nucleotide variant Pathogenic rs886041076 GRCh38 Chromosome 4, 76176436: 76176436
17 SCARB2 NM_005506.3(SCARB2): c.424-2A> C single nucleotide variant Pathogenic rs886041074 GRCh38 Chromosome 4, 76179707: 76179707
18 SCARB2 NM_005506.3(SCARB2): c.296delA (p.Asn99Ilefs) deletion Pathogenic rs886041073 GRCh38 Chromosome 4, 76181081: 76181081
19 SCARB2 NM_005506.3(SCARB2): c.111delC (p.Ile37Metfs) deletion Pathogenic rs886041072 GRCh37 Chromosome 4, 77134586: 77134586
20 SCARB2 NG_012054.1: g.42408_42412delCCTTA deletion Pathogenic rs886041075 GRCh38 Chromosome 4, 76176471: 76176475

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

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure.

Pathways for Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure

GO Terms for Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure

Sources for Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure

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70 UMLS via Orphanet
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