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EPM9
MCID: EPL154
MIFTS: 29
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Epilepsy, Progressive Myoclonic, 9 (EPM9)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:
Characteristics:Orphanet epidemiological data:58
progressive myoclonic epilepsy type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in the first decade two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) HPO:31
epilepsy, progressive myoclonic, 9:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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UniProtKB/Swiss-Prot :
73
Epilepsy, progressive myoclonic 9: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development.
MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to progressive myoclonus epilepsy 9 and lipodystrophy, partial, acquired. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay |
Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616540 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:40
Tongue
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Articles related to Epilepsy, Progressive Myoclonic, 9:
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Genes related to Epilepsy, Progressive Myoclonic, 9 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:6 (show top 50) (show all 144)
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:73
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Search
GEO
for disease gene expression data for Epilepsy, Progressive Myoclonic, 9.
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