eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lennox-gastaut syndrome | ||||
| Disease ID | 617 |
|---|---|
| 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 C0151740 | intracranial hypertension | 1 C0033845 | idiopathic intracranial hypertension | 1 C0037769 | west syndrome | 1 C0025362 | mental retardation | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:53) 64782 | AEN | 2.912 | DISEASES 79868 | ALG13 | 4.063 | DISEASES 250 | ALPP | 3.438 | DISEASES 10564 | ARFGEF2 | 2.857 | DISEASES 546 | ATRX | 1.067 | DISEASES 53335 | BCL11A | 1.752 | DISEASES 8913 | CACNA1G | 1.875 | DISEASES 6792 | CDKL5 | 1.636 | DISEASES 1557 | CYP2C19 | 2.411 | DISEASES 1576 | CYP3A4 | 1.919 | DISEASES 1641 | DCX | 3.945 | DISEASES 1759 | DNM1 | 4.059 | DISEASES 2018 | EMX2 | 3.391 | DISEASES 2316 | FLNA | 2.58 | DISEASES 2290 | FOXG1 | 1.606 | DISEASES 2563 | GABRD | 2.708 | DISEASES 2566 | GABRG2 | 3.445 | DISEASES 2593 | GAMT | 2.025 | DISEASES 2903 | GRIN2A | 1.018 | DISEASES 23096 | IQSEC2 | 2.919 | DISEASES 102723508 | KANTR | 3.246 | DISEASES 3785 | KCNQ2 | 5.212 | DISEASES 3836 | KPNA1 | 2.181 | DISEASES 3838 | KPNA2 | 2.127 | DISEASES 23633 | KPNA6 | 3.463 | DISEASES 402569 | KPNA7 | 3.579 | DISEASES 9211 | LGI1 | 1.307 | DISEASES 4204 | MECP2 | 1.518 | DISEASES 4535 | MT-ND1 | 1.867 | DISEASES 89796 | NAV1 | 2.592 | DISEASES 4729 | NDUFV2 | 2.6 | DISEASES 23327 | NEDD4L | 1.793 | DISEASES 594857 | NPS | 1.053 | DISEASES 5048 | PAFAH1B1 | 2.6 | DISEASES 5053 | PAH | 2.346 | DISEASES 57526 | PCDH19 | 2.244 | DISEASES 51400 | PPME1 | 2.915 | DISEASES 5649 | RELN | 2.226 | DISEASES 6263 | RYR3 | 2.392 | DISEASES 6334 | SCN8A | 1.741 | DISEASES 6335 | SCN9A | 1.586 | DISEASES 79005 | SCNM1 | 3.698 | DISEASES 10500 | SEMA6C | 1.775 | DISEASES 85358 | SHANK3 | 1.826 | DISEASES 6513 | SLC2A1 | 4.16 | DISEASES 6635 | SNRPE | 3.587 | DISEASES 6651 | SON | 2.777 | DISEASES 27286 | SRPX2 | 2.603 | DISEASES 6812 | STXBP1 | 3.439 | DISEASES 51347 | TAOK3 | 2.034 | DISEASES 10732 | TCFL5 | 1.69 | DISEASES 7321 | UBE2D1 | 1.526 | DISEASES 7453 | WARS | 1.436 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 617 |
|---|---|
| Disease | lennox-gastaut syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0000752 | Hyperactivity HP:0002353 | EEG abnormality HP:0001298 | Encephalopathy HP:0000708 | Behavioral abnormality HP:0007270 | Atypical absence seizures HP:0012075 | Personality disorder HP:0000729 | Autistic behavior HP:0001336 | Myoclonus HP:0007359 | Focal seizures HP:0001268 | Mental deterioration HP:0010819 | Atonic seizures HP:0002527 | Falls HP:0002363 | Abnormality of brainstem morphology HP:0010818 | Generalized tonic seizures HP:0011195 | EEG with focal sharp slow waves HP:0000718 | Aggressive behavior HP:0002123 | Generalized myoclonic seizures HP:0002069 | Generalized tonic-clonic seizures HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001250 | Seizures | 29 HP:0010819 | drop attacks | 4 HP:0002197 | Generalized seizures | 2 HP:0002516 | Intracranial pressure elevation | 1 HP:0000708 | Behavioral problems | 1 HP:0002307 | Sialorrhea | 1 HP:0001249 | Mental retardation | 1 |
| Disease ID | 617 |
|---|---|
| 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 C0234533 | generalized seizures | 2 C0259813 | drop attacks | 2 C0025362 | mental retardation | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000729 | Autistic behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0003997 | tonic-clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements |
| HP:0002363 | Abnormality of brainstem morphology | MP:0004568 | fusion of glossopharyngeal and vagus nerve | union of the ninth and tenth cranial nerves into a single structure |
| HP:0000718 | Aggressive behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0007359 | Focal seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0010819 | Atonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0010818 | Generalized tonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012075 | Personality disorder | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000718 | Aggressive behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010819 | Atonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0007270 | Atypical absence seizures | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002527 | Falls | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0002363 | Abnormality of brainstem morphology | MP:0012817 | rhombomere fusion | the union of one or more rhombomeres into a single structure |
| HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010818 | Generalized tonic seizures | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000729 | Autistic behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001298 | Encephalopathy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0007359 | Focal seizures | MP:0020160 | abnormal behavioral response to nicotine | any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior |
| Disease ID | 617 |
|---|---|
| Disease | lennox-gastaut syndrome |
| Case | (Waiting for update.) |