MCID: PRG148
MIFTS: 17

Progressive Myoclonus Epilepsy 1a

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 1a

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 1a:

Name: Progressive Myoclonus Epilepsy 1a 12 15
Epm1a 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111452

Summaries for Progressive Myoclonus Epilepsy 1a

Disease Ontology : 12 An Unverricht-Lundborg syndrome that has material basis in homozygous or compound heterozygous in CSTB on chromosome 21q22.3.

MalaCards based summary : Progressive Myoclonus Epilepsy 1a, also known as epm1a, is related to myoclonic epilepsy of unverricht and lundborg and myoclonic epilepsy of lafora. An important gene associated with Progressive Myoclonus Epilepsy 1a is CSTB (Cystatin B), and among its related pathways/superpathways is Hepatic ABC Transporters. Affiliated tissues include brain.

Related Diseases for Progressive Myoclonus Epilepsy 1a

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 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 31.9 EPM2A CSTB
2 myoclonic epilepsy of lafora 31.4 EPM2A CSTB
3 epilepsy, progressive myoclonic, 4, with or without renal failure 11.2
4 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.2
5 epilepsy, progressive myoclonic, 6 11.2
6 epilepsy, progressive myoclonic 7 11.2
7 epilepsy, progressive myoclonic, 10 11.2
8 epilepsy, progressive myoclonic, 11 11.2
9 myoclonus epilepsy 9.9 EPM2A CSTB
10 progressive myoclonus epilepsy 6 9.9 EPM2A CSTB
11 progressive myoclonus epilepsy 3 9.9 KCTD7 BTBD10
12 progressive myoclonus epilepsy 10 9.8 EPM2A CSTB
13 epilepsy, myoclonic juvenile 9.7 EPM2A CSTB
14 progressive myoclonus epilepsy 9.6 KCTD7 EPM2A CSTB
15 myoclonus 9.6 KCTD7 EPM2A CSTB
16 progressive myoclonus epilepsy 4 9.6 KCTD7 EPM2A CSTB
17 unverricht-lundborg syndrome 9.6 KCTD7 EPM2A CSTB
18 neonatal period electroclinical syndrome 9.6 KCTD7 EPM2A CSTB
19 electroclinical syndrome 9.6 KCTD7 EPM2A CSTB
20 early myoclonic encephalopathy 9.6 KCTD7 EPM2A CSTB
21 benign epilepsy with centrotemporal spikes 9.5 EPM2A CSTB

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 1a:



Diseases related to Progressive Myoclonus Epilepsy 1a

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 1a

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 1a

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 1a

Genetic Tests for Progressive Myoclonus Epilepsy 1a

Anatomical Context for Progressive Myoclonus Epilepsy 1a

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy 1a:

40
Brain

Publications for Progressive Myoclonus Epilepsy 1a

Articles related to Progressive Myoclonus Epilepsy 1a:

# Title Authors PMID Year
1
Distortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study. 61
31954920 2020
2
Cystatin B Involvement in Synapse Physiology of Rodent Brains and Human Cerebral Organoids. 61
31467503 2019
3
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 61
28378817 2017
4
Giant SEPs and SEP-recovery function in Unverricht-Lundborg disease. 61
23276489 2013
5
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 61
23205931 2012
6
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions. 61
20721566 2011

Variations for Progressive Myoclonus Epilepsy 1a

Expression for Progressive Myoclonus Epilepsy 1a

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 1a.

Pathways for Progressive Myoclonus Epilepsy 1a

Pathways related to Progressive Myoclonus Epilepsy 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.72 KCTD7 KCTD1

GO Terms for Progressive Myoclonus Epilepsy 1a

Biological processes related to Progressive Myoclonus Epilepsy 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 8.62 KCTD7 KCTD1

Sources for Progressive Myoclonus Epilepsy 1a

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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