AMRF
MCID: PRG140
MIFTS: 28

Progressive Myoclonus Epilepsy 4 (AMRF)

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 4

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 4:

Name: Progressive Myoclonus Epilepsy 4 12 15
Action Myoclonus-Renal Failure Syndrome 12
Myoclonic Epilepsies, Progressive 43
Myoclonus-Nephropathy Syndrome 12
Epm4 12
Amrf 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111444
MeSH 43 D020191
SNOMED-CT 67 764453009
UMLS 71 C0751779

Summaries for Progressive Myoclonus Epilepsy 4

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has material basis in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1.

MalaCards based summary : Progressive Myoclonus Epilepsy 4, also known as action myoclonus-renal failure syndrome, is related to unverricht-lundborg syndrome and myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy 4 is SCARB2 (Scavenger Receptor Class B Member 2), and among its related pathways/superpathways are Lysosome and Other glycan degradation. The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Progressive Myoclonus Epilepsy 4

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy 4 Progressive Myoclonus Epilepsy 10
Progressive Myoclonus Epilepsy 3 Progressive Myoclonus Epilepsy 7
Progressive Myoclonus Epilepsy 1b Progressive Myoclonus Epilepsy 6
Progressive Myoclonus Epilepsy 9 Progressive Myoclonus Epilepsy 8
Progressive Myoclonus Epilepsy 1a Progressive Myoclonus Epilepsy

Diseases related to Progressive Myoclonus Epilepsy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 unverricht-lundborg syndrome 32.4 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
2 myoclonus epilepsy 30.7 PRICKLE1 EPM2A CSTB
3 myoclonic epilepsy of unverricht and lundborg 30.6 SCARB2 EPM2A CSTB
4 myoclonus 30.4 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
5 early myoclonic encephalopathy 30.2 KCTD7 GBA EPM2A CSTB
6 progressive myoclonus epilepsy 30.1 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
7 epilepsy, myoclonic juvenile 29.9 EPM2A CSTB CACNA1I CACNA1H
8 gaucher disease, type i 29.6 SCARB2 PSAP GBA2 GBA
9 gaucher's disease 29.6 SCARB2 PSAP GBA2 GBA
10 neuronal ceroid lipofuscinosis 28.7 PSAP KCTD7 IGF2R
11 epilepsy 28.3 SCARB2 PRICKLE2 PRICKLE1 NAGLU KCTD7 EPM2A
12 epilepsy, progressive myoclonic, 4, with or without renal failure 11.6
13 progressive myoclonus epilepsy, lafora type 11.6
14 kidney disease 10.6
15 progressive myoclonus epilepsy 10 10.3 EPM2A CSTB
16 tremor 10.3
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
18 peripheral nervous system disease 10.2
19 neuropathy 10.2
20 progressive myoclonus epilepsy 1b 10.2 PRICKLE1 KCTD7
21 charcot-marie-tooth disease, axonal, type 2v 10.1 NAGLU IGF2R
22 progressive myoclonus epilepsy 1a 10.1 KCTD7 EPM2A CSTB
23 juvenile absence epilepsy 10.1 CACNA1I CACNA1H
24 neonatal period electroclinical syndrome 10.1 KCTD7 EPM2A CSTB
25 mucopolysaccharidosis iv 10.1 NAGLU IGF2R
26 aspiration pneumonia 10.1
27 autosomal recessive disease 10.1
28 sensorineural hearing loss 10.1
29 nephrotic syndrome 10.1
30 dilated cardiomyopathy 10.1
31 focal segmental glomerulosclerosis 10.1
32 polyneuropathy 10.1
33 demyelinating disease 10.1
34 demyelinating polyneuropathy 10.1
35 end stage renal disease 10.1
36 prickle1-related progressive myoclonus epilepsy with ataxia 10.1
37 hurler syndrome 10.0 NAGLU IGF2R
38 mucopolysaccharidosis, type iiia 10.0 SCARB2 NAGLU IGF2R
39 progressive myoclonus epilepsy 6 10.0 PRICKLE2 EPM2A CSTB
40 mucopolysaccharidosis iii 10.0 SCARB2 NAGLU IGF2R
41 mucopolysaccharidosis, type iva 10.0 NAGLU IGF2R
42 pierson syndrome 10.0 KIRREL1 COQ2
43 scheie syndrome 10.0 NAGLU IGF2R GBA
44 visual epilepsy 10.0
45 seizure disorder 10.0
46 mucopolysaccharidosis, type vii 9.9 NAGLU IGF2R
47 hereditary late-onset parkinson disease 9.9 PSAP GBA
48 benign epilepsy with centrotemporal spikes 9.9 EPM2A CSTB CACNA1H
49 adolescence-adult electroclinical syndrome 9.9 CSTB CACNA1H
50 gaucher disease, type ii 9.9 PSAP GBA

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 4:



Diseases related to Progressive Myoclonus Epilepsy 4

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 4

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CACNA1H CSTB EPM2A GBA IGF2R NAGLU
2 cardiovascular system MP:0005385 10.02 CACNA1H CACNA1I COQ2 EPM2A GBA IGF2R
3 hematopoietic system MP:0005397 9.91 CACNA1I CSTB EPM2A FAM47E GBA IGF2R
4 nervous system MP:0003631 9.65 CACNA1H CSTB EPM2A GBA IGF2R NAGLU
5 liver/biliary system MP:0005370 9.63 CACNA1I EPM2A GBA IGF2R NAGLU PSAP
6 skeleton MP:0005390 9.32 AUH CACNA1H COQ2 CSTB GBA IGF2R

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 4

Drugs for Progressive Myoclonus Epilepsy 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
3 Dopamine Agents Phase 2
4 Neurotransmitter Agents Phase 2
5 Dopamine agonists Phase 2
6 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole

Search NIH Clinical Center for Progressive Myoclonus Epilepsy 4

Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Progressive Myoclonus Epilepsy 4

Anatomical Context for Progressive Myoclonus Epilepsy 4

Publications for Progressive Myoclonus Epilepsy 4

Articles related to Progressive Myoclonus Epilepsy 4:

# Title Authors PMID Year
1
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. 61
29941711 2018

Variations for Progressive Myoclonus Epilepsy 4

Expression for Progressive Myoclonus Epilepsy 4

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 4.

Pathways for Progressive Myoclonus Epilepsy 4

Pathways related to Progressive Myoclonus Epilepsy 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 SCARB2 PSAP NAGLU IGF2R GBA
2 10.21 GBA2 GBA

GO Terms for Progressive Myoclonus Epilepsy 4

Cellular components related to Progressive Myoclonus Epilepsy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.46 SCARB2 PSAP IGF2R GBA
2 lysosome GO:0005764 9.35 SCARB2 PSAP NAGLU IGF2R GBA
3 voltage-gated calcium channel complex GO:0005891 9.32 CACNA1I CACNA1H
4 voltage-gated sodium channel complex GO:0001518 9.26 CACNA1I CACNA1H
5 lysosomal lumen GO:0043202 8.92 SCARB2 PSAP NAGLU GBA

Biological processes related to Progressive Myoclonus Epilepsy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.63 EPM2A CACNA1I CACNA1H
2 neuronal action potential GO:0019228 9.48 CACNA1I CACNA1H
3 calcium ion import GO:0070509 9.43 CACNA1I CACNA1H
4 lysosomal transport GO:0007041 9.4 PSAP IGF2R
5 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.37 CACNA1I CACNA1H
6 sphingolipid metabolic process GO:0006665 9.33 PSAP GBA2 GBA
7 membrane depolarization during action potential GO:0086010 9.32 CACNA1I CACNA1H
8 lipid glycosylation GO:0030259 9.26 GBA2 GBA
9 glycosphingolipid metabolic process GO:0006687 9.13 PSAP GBA2 GBA
10 glucosylceramide catabolic process GO:0006680 8.62 GBA2 GBA

Molecular functions related to Progressive Myoclonus Epilepsy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 NAGLU GBA2 GBA
2 voltage-gated sodium channel activity GO:0005248 9.37 CACNA1I CACNA1H
3 glucosyltransferase activity GO:0046527 9.26 GBA2 GBA
4 low voltage-gated calcium channel activity GO:0008332 9.16 CACNA1I CACNA1H
5 glucosylceramidase activity GO:0004348 8.96 GBA2 GBA
6 steryl-beta-glucosidase activity GO:0050295 8.62 GBA2 GBA

Sources for Progressive Myoclonus Epilepsy 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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