EMP8
MCID: PRG147
MIFTS: 26

Progressive Myoclonus Epilepsy 8 (EMP8)

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 8

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 8:

Name: Progressive Myoclonus Epilepsy 8 12 15
Progressive Myoclonic Epilepsy Due to Cers1 Deficiency 12
Progressive Myoclonus Epilepsy Type 8 12
Pme Type 8 12
Emp8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111451

Summaries for Progressive Myoclonus Epilepsy 8

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has material basis in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.

MalaCards based summary : Progressive Myoclonus Epilepsy 8, also known as progressive myoclonic epilepsy due to cers1 deficiency, is related to epilepsy, progressive myoclonic, 8 and progressive myoclonus epilepsy 9. An important gene associated with Progressive Myoclonus Epilepsy 8 is KCNU1 (Potassium Calcium-Activated Channel Subfamily U Member 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotype is neoplasm.

Related Diseases for Progressive Myoclonus Epilepsy 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 372)
# Related Disease Score Top Affiliating Genes
1 epilepsy, progressive myoclonic, 8 11.3
2 progressive myoclonus epilepsy 9 10.5 MT-ND5 KCNU1
3 severe congenital neutropenia 1 10.4 MT-ND5 MT-ND2
4 sparganosis 10.4 MT-ND5 MT-ND4L
5 thelaziasis 10.3 MT-ND5 MT-ND4L MT-ND2
6 hereditary optic neuropathy 10.3 MT-ND5 MT-ND4L MT-ND2
7 leukoregulin 10.2 IL1A CXCL8
8 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1 MTERF1 MT-ND5 MT-ND4L MT-ND2
9 mitochondrial encephalomyopathy 10.1 MTERF1 MT-ND5 MT-ND4L MT-ND2
10 punctate inner choroidopathy 10.1 TNF IL10
11 tropical endomyocardial fibrosis 10.0 TNF IL10
12 chronic graft versus host disease 10.0 IL1A IL10
13 multifocal choroiditis 10.0 TNF IL10
14 haemophilus influenzae 10.0 TNF CXCL8
15 toxicodendron dermatitis 10.0 TNF CXCL8
16 spotted fever rickettsiosis 10.0 TNF IL10
17 palladium allergic contact dermatitis 10.0 TNF IL10
18 neurosyphilis 9.9 IL10 CXCL8
19 external pathological resorption 9.9 TNF IL6
20 indolent myeloma 9.9 IL6 IL1A
21 scorpion envenomation 9.9 TNF IL6
22 angioimmunoblastic lymphadenopathy with dysproteinemia 9.8 TNF IL6
23 status asthmaticus 9.8 MMP3 IL10 CXCL8
24 keratopathy 9.8 TNF IL1A CXCL8
25 central nervous system tuberculosis 9.8 TNF SIGIRR
26 mycobacterium abscessus 9.8 TNF CXCL8
27 mitochondrial myopathy, infantile, transient 9.8 MT-ND5 MT-ND2
28 muckle-wells syndrome 9.8 TNF IL1A CXCL8
29 scabies 9.8 IL1A IL10 CXCL8
30 fuchs' heterochromic uveitis 9.8 IL6 CXCL8
31 multidrug-resistant tuberculosis 9.8 TNF IL1A IL10
32 extrapulmonary tuberculosis 9.7 TNF IL1A IL10
33 heart aneurysm 9.7 TNF MMP3 IL6
34 coronary aneurysm 9.7 TNF MMP3 IL6
35 metal allergy 9.7 TNF IL10
36 null-cell leukemia 9.7 TNF IL6
37 anaerobic pneumonia 9.7 TNF IL6
38 tendinitis 9.7 TNF MMP3 IL6
39 conjunctivochalasis 9.7 MMP3 IL6 CXCL8
40 bone deterioration disease 9.7 TNF MMP3 IL6
41 viral meningitis 9.7 MMP3 IL6 CXCL8
42 clonorchiasis 9.7 TNF IL10 CXCL8
43 trichuriasis 9.7 TNF IL10 CXCL8
44 leigh syndrome 9.6 TNF MT-ND5 MT-ND4L MT-ND2 DLD
45 stachybotrys chartarum 9.6 TNF IL6 IL1A
46 churg-strauss syndrome 9.6 TNF IL10 CXCL8
47 dermatitis herpetiformis 9.6 TNF IL10 CXCL8
48 bone structure disease 9.6 TNF MMP3 IL6
49 laryngitis 9.6 TNF IL6 IL1A
50 allergic conjunctivitis 9.6 TNF IL10 CXCL8

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 8:



Diseases related to Progressive Myoclonus Epilepsy 8

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 8

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 ATP6V0A2 DEK IL10 IL1A IL6 RAD52

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 8

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 8

Genetic Tests for Progressive Myoclonus Epilepsy 8

Anatomical Context for Progressive Myoclonus Epilepsy 8

Publications for Progressive Myoclonus Epilepsy 8

Articles related to Progressive Myoclonus Epilepsy 8:

# Title Authors PMID Year
1
The pentatricopeptide repeat protein EMPTY PERICARP8 is required for the splicing of three mitochondrial introns and seed development in maize. 61
30003606 2018

Variations for Progressive Myoclonus Epilepsy 8

Expression for Progressive Myoclonus Epilepsy 8

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 8.

Pathways for Progressive Myoclonus Epilepsy 8

Pathways related to Progressive Myoclonus Epilepsy 8 according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 TRIM17 TNF MMP3 IL6 IL1A IL10
2
Show member pathways
13.15 TNF MT-ND5 MT-ND4L MT-ND2 IL6 IL1A
3
Show member pathways
13.09 TNF MT-ND5 MT-ND4L MT-ND2 IL6 IL1A
4
Show member pathways
12.78 TNF IL6 IL1A IL10 CXCL8
5
Show member pathways
12.64 TNF SIGIRR IL6 IL1A CXCL8
6
Show member pathways
12.26 TNF MMP3 IL6 CXCL8
7
Show member pathways
12.25 TNF IL6 IL10 CXCL8
8
Show member pathways
12.24 TNF IL6 IL1A CXCL8
9
Show member pathways
12.18 TNF IL6 IL1A CXCL8
10
Show member pathways
12.18 TNF IL6 IL1A IL10 CXCL8
11 12.15 TNF IL6 IL1A IL10 ATP6V0A2
12 12.08 TNF IL6 IL1A IL10 CXCL8
13 11.94 TNF IL6 IL10 CXCL8
14 11.93 TNF IL6 IL1A CXCL8
15 11.85 TNF IL6 IL10 CXCL8
16 11.83 TNF IL6 IL1A
17 11.83 TNF IL6 IL1A CXCL8
18 11.68 TNF IL6 IL10
19 11.6 TNF IL6 IL1A IL10 CXCL8
20 11.59 TNF IL6 CXCL8
21 11.52 TNF IL6 CXCL8
22 11.49 TNF MMP3 IL6 IL1A IL10 CXCL8
23 11.46 TNF IL6 IL10 CXCL8
24
Show member pathways
11.45 TNF MMP3 IL6 IL1A CXCL8
25 11.41 TNF IL6 IL1A
26 11.31 TNF IL6 IL10
27 11.25 TNF IL6 IL1A IL10
28 11.24 TNF IL6 IL1A IL10 CXCL8
29 11.13 TNF IL6 IL1A IL10
30 11.07 TNF MMP3 IL6 IL1A CXCL8 ATP6V0A2
31 10.97 TNF IL6 CXCL8
32 10.95 TNF IL6 IL1A IL10 CXCL8

GO Terms for Progressive Myoclonus Epilepsy 8

Cellular components related to Progressive Myoclonus Epilepsy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 9.13 MT-ND5 MT-ND4L MT-ND2
2 mitochondrial respiratory chain complex I GO:0005747 8.8 MT-ND5 MT-ND4L MT-ND2

Biological processes related to Progressive Myoclonus Epilepsy 8 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.73 TNF IL6 IL1A IL10 CXCL8 ATP6V0A2
2 response to glucocorticoid GO:0051384 9.7 TNF IL6 IL10
3 positive regulation of neuroinflammatory response GO:0150078 9.57 TNF IL6
4 regulation of neuroinflammatory response GO:0150077 9.56 MMP3 IL6
5 response to molecule of bacterial origin GO:0002237 9.55 IL10 CXCL8
6 cellular response to lipopolysaccharide GO:0071222 9.55 TNF IL6 IL1A IL10 CXCL8
7 negative regulation of lipid storage GO:0010888 9.54 TNF IL6
8 positive regulation of cytokine secretion GO:0050715 9.54 TNF IL1A IL10
9 endothelial cell apoptotic process GO:0072577 9.51 TNF IL10
10 positive regulation of JAK-STAT cascade GO:0046427 9.5 TNF IL6 IL10
11 ATP synthesis coupled electron transport GO:0042773 9.49 MT-ND5 MT-ND4L
12 negative regulation of cytokine production involved in immune response GO:0002719 9.48 TNF IL10
13 negative regulation of cytokine secretion involved in immune response GO:0002740 9.46 TNF IL10
14 negative regulation of chemokine biosynthetic process GO:0045079 9.43 SIGIRR IL6
15 receptor biosynthetic process GO:0032800 9.4 TNF IL10
16 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND5 MT-ND4L MT-ND2 DLD
17 cytokine-mediated signaling pathway GO:0019221 9.1 TNF MMP3 IL6 IL1A IL10 CXCL8

Molecular functions related to Progressive Myoclonus Epilepsy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.13 MT-ND5 MT-ND4L MT-ND2
2 cytokine activity GO:0005125 9.02 TNF IL6 IL1A IL10 CXCL8

Sources for Progressive Myoclonus Epilepsy 8

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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