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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   myoclonus epilepsy
  

Disease ID 1132
Disease myoclonus epilepsy
Definition
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Synonym
disorder, myoclonic seizure
disorders, myoclonic seizure
epilepsies, myoclonic
epilepsies, myoclonic [disease/finding]
epilepsy myoclonic
epilepsy, myoclonic
epilepsy, myoclonus
epileptic seizures - myoclonic
epileptic seizures - myoclonic (disorder)
epileptic seizures, myoclonic
myoclonia epileptica
myoclonic epilepsies
myoclonic epilepsy
myoclonic seizure
myoclonic seizure (disorder)
myoclonic seizure dis
myoclonic seizure disorder
myoclonic seizure disorders
myoclonic seizures
myoclonus epilepsies
seizure disorder, myoclonic
seizure disorders, myoclonic
seizures, myoclonic
DOID
UMLS
C0014550
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:35)
C0014544  |  epilepsy  |  10
C0270853  |  juvenile myoclonic epilepsy  |  7
C0026846  |  muscular atrophy  |  7
C0026847  |  spinal muscular atrophy  |  7
C0014553  |  absence seizures  |  3
C0004134  |  ataxia  |  3
C0014544  |  epilepsies  |  2
C0023264  |  leigh syndrome  |  2
C0751783  |  lafora disease  |  2
C0014556  |  temporal lobe epilepsy  |  2
C0178664  |  glomerulosclerosis  |  1
C0022658  |  nephropathy  |  1
C0524851  |  neurodegenerative disorders  |  1
C0006017  |  pertussis  |  1
C0013421  |  dystonia  |  1
C0751778  |  progressive myoclonus epilepsy  |  1
C0027765  |  neurological disorder  |  1
C0042373  |  vascular disease  |  1
C0017205  |  gaucher's disease  |  1
C0026769  |  multiple sclerosis  |  1
C0497327  |  dementia  |  1
C0268579  |  ketotic hyperglycinemia  |  1
C0035078  |  renal failure  |  1
C1261175  |  pontocerebellar hypoplasia  |  1
C0751748  |  non-ketotic hyperglycinemia  |  1
C0031212  |  personality disorders  |  1
C0917796  |  leber's hereditary optic neuropathy  |  1
C0029132  |  optic neuropathy  |  1
C0038220  |  status epilepticus  |  1
C0238111  |  lennox-gastaut syndrome  |  1
C0456909  |  blindness  |  1
C0751122  |  dravet syndrome  |  1
C0017205  |  gaucher disease  |  1
C0035372  |  rett syndrome  |  1
C0442874  |  neuropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
5376  |  PMP22  |  CTD_human
5443  |  POMC  |  CTD_human
6323  |  SCN1A  |  CTD_human
6812  |  STXBP1  |  CTD_human
2566  |  GABRG2  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:6)
57526  |  PCDH19  |  CIPHER
6323  |  SCN1A  |  CIPHER;CTD_human
5443  |  POMC  |  CTD_human
5376  |  PMP22  |  CTD_human
6812  |  STXBP1  |  CTD_human
2566  |  GABRG2  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1132
Disease myoclonus epilepsy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:33)
HP:0003200  |  Ragged-red fibers  |  23
HP:0001250  |  Seizures  |  17
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  7
HP:0007269  |  Spinal muscle wasting  |  7
HP:0002069  |  Generalized tonic clonic seizures  |  5
HP:0001336  |  Myoclonic jerks  |  5
HP:0001298  |  Encephalopathy  |  4
HP:0002121  |  Petit mal seizures  |  3
HP:0001251  |  Ataxia  |  3
HP:0200134  |  Epileptic encephalopathy  |  2
HP:0100318  |  Lafora bodies  |  2
HP:0000975  |  Increased sweating  |  1
HP:0000618  |  Blindness  |  1
HP:0001138  |  Damaged optic nerve  |  1
HP:0010819  |  drop attacks  |  1
HP:0002448  |  Progressive encephalopathy  |  1
HP:0000726  |  Dementia  |  1
HP:0000112  |  Nephropathy  |  1
HP:0007359  |  Partial seizures  |  1
HP:0000096  |  Glomerulosclerosis  |  1
HP:0001263  |  Developmental retardation  |  1
HP:0001321  |  Small cerebellum  |  1
HP:0001332  |  Dystonia  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0040148  |  Cortical myoclonus  |  1
HP:0012075  |  Personality disorder  |  1
HP:0001279  |  Syncope  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0002123  |  Myoclonus seizures  |  1
HP:0002527  |  Falls  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0007410  |  Excessive sweating of palms and soles  |  1
HP:0002104  |  Absence of spontaneous respiration  |  1
Disease ID 1132
Disease myoclonus epilepsy
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C1536087  |  negative myoclonus
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0036572  |  seizures  |  9
C1839611  |  n syndrome  |  3
C0014553  |  absence seizures  |  2
C0027066  |  myoclonus  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894884172628564694NDUFA1umls:C0014550BeFreeTwo novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.0.0029957922007NDUFA1;RNF113AX119871933GC
rs104894885172628564694NDUFA1umls:C0014550BeFreeTwo novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.0.0029957922007NDUFA1;RNF113AX119873312GA,C
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1132
Disease myoclonus epilepsy
Case(Waiting for update.)