eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| landau kleffner syndrome | ||||
| Disease ID | 1340 |
|---|---|
| Disease | landau kleffner syndrome |
| Definition | A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495) |
| Synonym | acquired aphasia with convulsive disorder acquired aphasia with epilepsy acquired childhood aphasia with convulsive dis acquired childhoood aphasia with convulsive disorder acquired epileptic aphasia acquired epileptic aphasia (disorder) acquired epileptic aphasias acquired epileptiform aphasia acquired epileptiform aphasias aphasia, acquired epileptic aphasia, acquired, with convulsive disorder aphasia, epileptic, acquired epileptic aphasia, acquired epileptic aphasias, acquired epileptiform aphasia, acquired epileptiform aphasias, acquired landau kleffner acquired epileptiform aphasia landau-kleffner acquired epileptiform aphasia landau-kleffner syndrome landau-kleffner syndrome [disease/finding] lks syndrome, landau-kleffner |
| Orphanet | |
| DOID | |
| UMLS | C0282512 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 64782 | AEN | 3.716 | DISEASES 3267 | AGFG1 | 2.418 | DISEASES 56259 | CTNNBL1 | 3.135 | DISEASES 2048 | EPHB2 | 2.338 | DISEASES 2903 | GRIN2A | 5.645 | DISEASES 50618 | ITSN2 | 3.895 | DISEASES 3785 | KCNQ2 | 2.135 | DISEASES 9211 | LGI1 | 2.022 | DISEASES 5649 | RELN | 2.073 | DISEASES 404552 | SCGB1D4 | 2.512 | DISEASES 10500 | SEMA6C | 2.58 | DISEASES 6513 | SLC2A1 | 1.068 | DISEASES 23583 | SMUG1 | 2.338 | DISEASES 27286 | SRPX2 | 2.45 | DISEASES 10732 | TCFL5 | 2.494 | DISEASES 64222 | TOR3A | 2.846 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1340 |
|---|---|
| Disease | landau kleffner syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0000750 | Late-onset speech development HP:0011098 | Verbal dyspraxia HP:0001250 | Seizures HP:0001263 | Developmental retardation HP:0007018 | Attention deficits HP:0002357 | Dysphasia HP:0012557 | EEG with centrotemporal focal spike waves HP:0010524 | Agnosia HP:0002381 | Aphasia HP:0001249 | Mental retardation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1340 |
|---|---|
| Disease | landau kleffner syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000750 | Delayed speech and language development | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012557 | EEG with centrotemporal focal spike waves | 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:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002381 | Aphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000750 | Delayed speech and language development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0011098 | Speech apraxia | 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:0010524 | Agnosia | MP:0012727 | abnormal uterine spiral artery remodeling | any anomaly of the physiological conversion of the uterine spiral arteries into highly dilated vessels by the action of invading trophoblast; in pregnancy, trophoblast invasion and uterine spiral artery remodeling are important for lowering maternal vascu |
| HP:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| Disease ID | 1340 |
|---|---|
| Disease | landau kleffner syndrome |
| Case | (Waiting for update.) |