EPM3
MCID: PRG142
MIFTS: 21

Progressive Myoclonus Epilepsy 3 (EPM3)

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 3

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 3:

Name: Progressive Myoclonus Epilepsy 3 12 15
Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency 12
Progressive Myoclonus Epilepsy Type 3 12
Neuronal Ceroid Lipofuscinosis 14 12
Epilepsy, Progressive Myoclonic 3 43
Cln14 Disease 12
Pme Type 3 12
Epm3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111446
MeSH 43 C567095
UMLS 71 C2673257

Summaries for Progressive Myoclonus Epilepsy 3

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has material basis in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.

MalaCards based summary : Progressive Myoclonus Epilepsy 3, also known as progressive myoclonic epilepsy due to kctd7 deficiency, is related to epilepsy, progressive myoclonic, 3, with or without intracellular inclusions and epilepsy progressive myoclonic type 3. An important gene associated with Progressive Myoclonus Epilepsy 3 is KCTD7 (Potassium Channel Tetramerization Domain Containing 7), and among its related pathways/superpathways are Sweet Taste Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Related Diseases for Progressive Myoclonus Epilepsy 3

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

(showing 29, show less)
# Related Disease Score Top Affiliating Genes
1 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.1
2 epilepsy progressive myoclonic type 3 11.6
3 epilepsy, idiopathic generalized 5 10.1 KCTD7 CLN8
4 progressive myoclonus epilepsy 1a 10.1 KCTD7 BTBD10
5 neuronal ceroid-lipofuscinoses 9.7 CLN8 CLN6 CLN5
6 unverricht-lundborg syndrome 9.7 KCTD7 CLN6 CLN5
7 ceroid lipofuscinosis, neuronal, 6 9.5 MFSD8 CLN6 CLN5
8 adult neuronal ceroid lipofuscinosis 9.4 TPP1 DNAJC5 CLN6
9 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.4 TPP1 DNAJC5 CLN6
10 mucopolysaccharidosis, type iiia 9.3 TPP1 DNAJC5 CLN6
11 mucopolysaccharidosis iii 9.3 TPP1 DNAJC5 CLN6
12 mucopolysaccharidosis-plus syndrome 9.2 TPP1 DNAJC5 CLN6
13 progressive myoclonus epilepsy 9.2 TPP1 KCTD7 CLN6 CLN5
14 dystonia 9.2 KCTD7 DNAJC5 CLN8 CLN6
15 lipid storage disease 9.1 TPP1 CLN8 CLN6 CLN5
16 lysosomal storage disease 9.0 TPP1 CLN6 CLN5
17 spinocerebellar ataxia, autosomal recessive 7 8.9 TPP1 MFSD8 KCTD7 CLN8 CLN6
18 ceroid lipofuscinosis, neuronal, 2 8.8 TPP1 DNAJC5 CLN8 CLN6 CLN5
19 ceroid storage disease 8.8 TPP1 DNAJC5 CLN8 CLN6 CLN5
20 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.8 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
21 ceroid lipofuscinosis, neuronal, 1 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
22 ceroid lipofuscinosis, neuronal, 13 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
23 ceroid lipofuscinosis, neuronal, 11 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
24 ceroid lipofuscinosis, neuronal, 7 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
25 ceroid lipofuscinosis, neuronal, 10 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
26 ceroid lipofuscinosis, neuronal, 9 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
27 ceroid lipofuscinosis, neuronal, 3 8.2 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
28 neuronal ceroid lipofuscinosis 8.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
29 visual epilepsy 8.1 TPP1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 3:



Diseases related to Progressive Myoclonus Epilepsy 3

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 3

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 3

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 3

Cochrane evidence based reviews: epilepsy, progressive myoclonic 3

Genetic Tests for Progressive Myoclonus Epilepsy 3

Anatomical Context for Progressive Myoclonus Epilepsy 3

Publications for Progressive Myoclonus Epilepsy 3

Articles related to Progressive Myoclonus Epilepsy 3:

(showing 1, show less)
# Title Authors PMID Year
1
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019

Variations for Progressive Myoclonus Epilepsy 3

Expression for Progressive Myoclonus Epilepsy 3

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 3.

Pathways for Progressive Myoclonus Epilepsy 3

Pathways related to Progressive Myoclonus Epilepsy 3 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 KCTD8 KCTD7 KCTD5 KCTD11
2
Show member pathways
11.85 KCTD8 KCTD7 KCTD5 KCTD11
3 11.44 TPP1 MFSD8 CLN5
4
Show member pathways
11.02 KCTD8 KCTD7 KCTD5 KCTD11

GO Terms for Progressive Myoclonus Epilepsy 3

Cellular components related to Progressive Myoclonus Epilepsy 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.8 MFSD8 DNAJC5 CLN5

Biological processes related to Progressive Myoclonus Epilepsy 3 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 9.46 TPP1 CLN8 CLN6 CLN5
2 regulation of G protein-coupled receptor signaling pathway GO:0008277 9.32 KCTD8 KCTD16
3 lysosomal lumen acidification GO:0007042 9.26 CLN6 CLN5
4 lysosome organization GO:0007040 9.26 TPP1 MFSD8 CLN6 CLN5
5 protein homooligomerization GO:0051260 9.02 KCTD8 KCTD7 KCTD5 KCTD16 KCTD11

Molecular functions related to Progressive Myoclonus Epilepsy 3 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 8.96 TPP1 CLN6
2 sulfatide binding GO:0120146 8.62 TPP1 CLN6

Sources for Progressive Myoclonus Epilepsy 3

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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