EMP9
MCID: PRG146
MIFTS: 19

Progressive Myoclonus Epilepsy 9 (EMP9)

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 9

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 9:

Name: Progressive Myoclonus Epilepsy 9 12 15
Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency 12
Progressive Myoclonus Epilepsy Type 9 12
Pme Type 9 12
Emp9 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111450

Summaries for Progressive Myoclonus Epilepsy 9

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has material basis in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3.

MalaCards based summary : Progressive Myoclonus Epilepsy 9, also known as progressive myoclonic epilepsy due to lmnb2 deficiency, is related to epilepsy, progressive myoclonic, 9 and anemia of prematurity. An important gene associated with Progressive Myoclonus Epilepsy 9 is IMP3 (IMP U3 Small Nucleolar Ribonucleoprotein 3), and among its related pathways/superpathways are Hematopoietic cell lineage and Development EPO-induced Jak-STAT pathway.

Related Diseases for Progressive Myoclonus Epilepsy 9

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 9:



Diseases related to Progressive Myoclonus Epilepsy 9

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 9

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 9

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 9

Genetic Tests for Progressive Myoclonus Epilepsy 9

Anatomical Context for Progressive Myoclonus Epilepsy 9

Publications for Progressive Myoclonus Epilepsy 9

Articles related to Progressive Myoclonus Epilepsy 9:

# Title Authors PMID Year
1
HIF‑1α attenuates neuronal apoptosis by upregulating EPO expression following cerebral ischemia‑reperfusion injury in a rat MCAO model. 61
32124933 2020
2
The pentatricopeptide repeat protein EMP9 is required for mitochondrial ccmB and rps4 transcript editing, mitochondrial complex biogenesis and seed development in maize. 61
28121385 2017
3
Significance of Erythropoietin Receptor Antagonist EMP9 in Cancers. 61
28629523 2017
4
Erythropoietin Receptor Antagonist Suppressed Ectopic Hemoglobin Synthesis in Xenografts of HeLa Cells to Promote Their Destruction. 61
25874769 2015

Variations for Progressive Myoclonus Epilepsy 9

Expression for Progressive Myoclonus Epilepsy 9

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 9.

Pathways for Progressive Myoclonus Epilepsy 9

Pathways related to Progressive Myoclonus Epilepsy 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.25 EPOR EPO
2
Show member pathways
11.14 EPOR EPO
3
Show member pathways
10.6 EPOR EPO
4 10.05 EPOR EPO

GO Terms for Progressive Myoclonus Epilepsy 9

Biological processes related to Progressive Myoclonus Epilepsy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.16 EPOR EPO
2 positive regulation of Ras protein signal transduction GO:0046579 8.96 EPOR EPO
3 erythropoietin-mediated signaling pathway GO:0038162 8.62 EPOR EPO

Sources for Progressive Myoclonus Epilepsy 9

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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