MCID: PRG144
MIFTS: 12

Progressive Myoclonus Epilepsy 1b

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 1b

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 1b:

Name: Progressive Myoclonus Epilepsy 1b 12 15
Epm1b 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111448

Summaries for Progressive Myoclonus Epilepsy 1b

Disease Ontology : 12 An Unverricht-Lundborg syndrome that has material basis in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12.

MalaCards based summary : Progressive Myoclonus Epilepsy 1b, also known as epm1b, is related to epilepsy, progressive myoclonic, 1b and prickle1-related progressive myoclonus epilepsy with ataxia. An important gene associated with Progressive Myoclonus Epilepsy 1b is PUS7L (Pseudouridine Synthase 7 Like).

Related Diseases for Progressive Myoclonus Epilepsy 1b

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



Diseases related to Progressive Myoclonus Epilepsy 1b

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 1b

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 1b

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

Genetic Tests for Progressive Myoclonus Epilepsy 1b

Anatomical Context for Progressive Myoclonus Epilepsy 1b

Publications for Progressive Myoclonus Epilepsy 1b

Articles related to Progressive Myoclonus Epilepsy 1b:

# Title Authors PMID Year
1
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. 61
15634728 2005

Variations for Progressive Myoclonus Epilepsy 1b

Expression for Progressive Myoclonus Epilepsy 1b

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

Pathways for Progressive Myoclonus Epilepsy 1b

GO Terms for Progressive Myoclonus Epilepsy 1b

Sources for Progressive Myoclonus Epilepsy 1b

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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