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Pediatric Disease Annotations & Medicines



   lennox-gastaut syndrome
  

Disease ID 341
Disease lennox-gastaut syndrome
Definition
A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.
Synonym
gastaut syndrome
gastaut syndrome, lennox
gastaut syndromes, lennox
lennox gastaut syndrome
lennox gastaut syndrome [disease/finding]
lennox gastaut syndromes
lennox gestaut syndrome
lennox-gastat syndrome
lennox-gastaut syndrome (disorder)
lennox-gastaut syndrome (disorder) [ambiguous]
lennox-gestaut syndrome
syndrome, lennox gastaut
syndromes, lennox gastaut
Orphanet
DOID
UMLS
C0238111
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0014544  |  epilepsy  |  4
C0025362  |  mental retardation  |  1
C0037769  |  west syndrome  |  1
C0151740  |  intracranial hypertension  |  1
C0033845  |  idiopathic intracranial hypertension  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
CHD2  |  1106  |  ORPHANET
SCN1A  |  6323  |  ORPHANET
MAPK10  |  5602  |  ORPHANET
DNM1  |  1759  |  ORPHANET
GABRB3  |  2562  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:88)
2554  |  GABRA1  |  DISEASES
10857  |  PGRMC1  |  DISEASES
7249  |  TSC2  |  DISEASES
2936  |  GSR  |  DISEASES
2218  |  FKTN  |  DISEASES
51426  |  POLK  |  DISEASES
10677  |  AVIL  |  DISEASES
9568  |  GABBR2  |  DISEASES
6496  |  SIX3  |  DISEASES
9360  |  PPIG  |  DISEASES
2184  |  FAH  |  DISEASES
6487  |  ST3GAL3  |  DISEASES
10000  |  AKT3  |  DISEASES
941  |  CD80  |  DISEASES
57575  |  PCDH10  |  DISEASES
5443  |  POMC  |  DISEASES
18  |  ABAT  |  DISEASES
2559  |  GABRA6  |  DISEASES
2561  |  GABRB2  |  DISEASES
2904  |  GRIN2B  |  DISEASES
5860  |  QDPR  |  DISEASES
3192  |  HNRNPU  |  DISEASES
26060  |  APPL1  |  DISEASES
89858  |  SIGLEC12  |  DISEASES
57465  |  TBC1D24  |  DISEASES
2560  |  GABRB1  |  DISEASES
115825  |  WDFY2  |  DISEASES
2562  |  GABRB3  |  DISEASES
7200  |  TRH  |  DISEASES
6323  |  SCN1A  |  DISEASES
2194  |  FASN  |  DISEASES
1540  |  CYLD  |  DISEASES
5198  |  PFAS  |  DISEASES
10318  |  TNIP1  |  DISEASES
27319  |  BHLHE22  |  DISEASES
4729  |  NDUFV2  |  DISEASES
51400  |  PPME1  |  DISEASES
402569  |  KPNA7  |  DISEASES
64782  |  AEN  |  DISEASES
3838  |  KPNA2  |  DISEASES
2903  |  GRIN2A  |  DISEASES
10732  |  TCFL5  |  DISEASES
1641  |  DCX  |  DISEASES
1576  |  CYP3A4  |  DISEASES
53335  |  BCL11A  |  DISEASES
2290  |  FOXG1  |  DISEASES
3836  |  KPNA1  |  DISEASES
6334  |  SCN8A  |  DISEASES
7453  |  WARS  |  DISEASES
6651  |  SON  |  DISEASES
8913  |  CACNA1G  |  DISEASES
3785  |  KCNQ2  |  DISEASES
4535  |  MT-ND1  |  DISEASES
89796  |  NAV1  |  DISEASES
79005  |  SCNM1  |  DISEASES
10500  |  SEMA6C  |  DISEASES
2018  |  EMX2  |  DISEASES
2316  |  FLNA  |  DISEASES
1557  |  CYP2C19  |  DISEASES
9211  |  LGI1  |  DISEASES
10564  |  ARFGEF2  |  DISEASES
1759  |  DNM1  |  DISEASES
27286  |  SRPX2  |  DISEASES
57526  |  PCDH19  |  DISEASES
6812  |  STXBP1  |  DISEASES
546  |  ATRX  |  DISEASES
23633  |  KPNA6  |  DISEASES
7321  |  UBE2D1  |  DISEASES
2563  |  GABRD  |  DISEASES
6792  |  CDKL5  |  DISEASES
6263  |  RYR3  |  DISEASES
250  |  ALPP  |  DISEASES
51347  |  TAOK3  |  DISEASES
79868  |  ALG13  |  DISEASES
23096  |  IQSEC2  |  DISEASES
5048  |  PAFAH1B1  |  DISEASES
594857  |  NPS  |  DISEASES
23327  |  NEDD4L  |  DISEASES
6335  |  SCN9A  |  DISEASES
5649  |  RELN  |  DISEASES
4204  |  MECP2  |  DISEASES
6635  |  SNRPE  |  DISEASES
2593  |  GAMT  |  DISEASES
2566  |  GABRG2  |  DISEASES
6513  |  SLC2A1  |  DISEASES
85358  |  SHANK3  |  DISEASES
5053  |  PAH  |  DISEASES
102723508  |  KANTR  |  DISEASES
Locus
Symbol | Locus(Total Locus:5)
CHD2  |  15q26.1
SCN1A  |  2q24.3
GABRB3  |  15q12
DNM1  |  9q34.11
MAPK10  |  4q21.3
Disease ID 341
Disease lennox-gastaut syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:19)
HP:0010818  |  Generalized tonic seizures
HP:0002363  |  Abnormality of brainstem morphology
HP:0001298  |  Encephalopathy
HP:0000718  |  Aggressive behavior
HP:0012075  |  Personality disorder
HP:0007270  |  Atypical absence seizures
HP:0001249  |  Intellectual disability
HP:0000708  |  Behavioral abnormality
HP:0002353  |  EEG abnormality
HP:0000729  |  Autistic behavior
HP:0002069  |  Generalized tonic-clonic seizures
HP:0002527  |  Falls
HP:0007359  |  Focal seizures
HP:0001268  |  Mental deterioration
HP:0010819  |  Atonic seizures
HP:0000752  |  Hyperactivity
HP:0002123  |  Generalized myoclonic seizures
HP:0011195  |  EEG with focal sharp slow waves
HP:0001336  |  Myoclonus
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
HP:0001250  |  Seizures  |  29
HP:0010819  |  drop attacks  |  3
HP:0002197  |  Generalized seizures  |  2
HP:0002516  |  Intracranial pressure elevation  |  1
HP:0002307  |  Sialorrhea  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0001249  |  Mental retardation  |  1
Disease ID 341
Disease lennox-gastaut syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:12)
C1421293  |  angelman syndrome
C0595948  |  atypical absence seizures
C0270846  |  atonic seizures
C0270844  |  tonic seizures
C0259813  |  drop attacks
C0234533  |  generalized seizures
C0038220  |  status epilepticus
C0037769  |  infantile spasms
C0036572  |  seizures
C0027066  |  myoclonus
C0025362  |  mental retardation
C0014544  |  epileptic seizures
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0036572  |  seizures  |  25
C0259813  |  drop attacks  |  2
C0234533  |  generalized seizures  |  2
C0025362  |  mental retardation  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)