eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile absence epilepsy | ||||
| Disease ID | 835 |
|---|---|
| Disease | juvenile absence epilepsy |
| Definition | A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736) |
| Synonym | absence epilepsies, childhood absence epilepsies, juvenile absence epilepsy, childhood absence epilepsy, juvenile absence seizure dis absence seizure disorders childhood - juvenile - absence epilepsy childhood absence epilepsies childhood absence epilepsy (disorder) childhood absence seizures convulsion, petit mal epilepsies, childhood absence epilepsies, juvenile absence epilepsy juvenile absence epilepsy juvenile absences epilepsy, absence epilepsy, absence [disease/finding] epilepsy, childhood absence epilepsy, juvenile absence juvenile absence epilepsies juvenile absence epilepsy (disorder) juvenile absence, epilepsy juvenile absences, epilepsy minor epilepsies petit mal epilepsies pykno epilepsy pykno-epilepsies pyknolepsies seizure dis absence seizure disorder, absence seizure disorders, absence seizure, absence |
| Orphanet | |
| DOID | |
| UMLS | C4281785 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 415 | ARSE | 2.409 | DISEASES 773 | CACNA1A | 1.557 | DISEASES 8913 | CACNA1G | 2.676 | DISEASES 8912 | CACNA1H | 4.362 | DISEASES 57126 | CD177 | 2.263 | DISEASES 1137 | CHRNA4 | 1.518 | DISEASES 124454 | EARS2 | 3.92 | DISEASES 114327 | EFHC1 | 4.029 | DISEASES 5169 | ENPP3 | 2.176 | DISEASES 2263 | FGFR2 | 1.353 | DISEASES 2558 | GABRA5 | 3.207 | DISEASES 2566 | GABRG2 | 4.246 | DISEASES 2897 | GRIK1 | 3.857 | DISEASES 2898 | GRIK2 | 2.771 | DISEASES 2903 | GRIN2A | 1.819 | DISEASES 3356 | HTR2A | 1.576 | DISEASES 23327 | NEDD4L | 2.594 | DISEASES 5813 | PURA | 3.11 | DISEASES 6513 | SLC2A1 | 2.111 | DISEASES 6949 | TCOF1 | 1.741 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) EFHC1 | 6p12.2 |
| Disease ID | 835 |
|---|---|
| Disease | juvenile absence epilepsy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0002121 | Petit mal seizures HP:0002392 | EEG with polyspike wave complexes HP:0000153 | Abnormality of the mouth HP:0002123 | Myoclonus seizures HP:0000496 | Abnormality of eye movement HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) HP:0001336 | Myoclonus HP:0002373 | Febrile seizures HP:0002121 | Absence seizures HP:0002069 | Generalized tonic-clonic seizures HP:0007193 | Morning generalized tonic-clonic seizures HP:0002197 | Generalized seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 835 |
|---|---|
| Disease | juvenile absence epilepsy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0002121 | Absence 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: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:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002392 | EEG with polyspike wave complexes | MP:0008840 | abnormal spike wave discharge | anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0007193 | Generalized tonic-clonic seizures on awakening | 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:0002197 | Generalized 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:0002373 | Febrile 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:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002392 | EEG with polyspike wave complexes | MP:0013741 | absent thymus corticomedullary boundary | complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, |
| 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:0010849 | EEG with spike-wave complexes (>3.5 Hz) | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0000153 | Abnormality of the mouth | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000496 | Abnormality of eye movement | 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:0002121 | Absence 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:0002197 | Generalized seizures | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0002373 | Febrile seizures | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007193 | Generalized tonic-clonic seizures on awakening | MP:0013741 | absent thymus corticomedullary boundary | complete absence or loss of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, |
| Disease ID | 835 |
|---|---|
| Disease | juvenile absence epilepsy |
| Case | (Waiting for update.) |