eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| early myoclonic encephalopathy | ||||
| Disease ID | 525 |
|---|---|
| Disease | early myoclonic encephalopathy |
| Definition | A neurological disorder characterized by recurring seizures presenting within the first months of life, characterized by frequently recurring myoclonic seizures and other seizure types. |
| Synonym | early myoclonic encephalopathy (disorder) eiee3 eme epileptic encephalopathy, early infantile, 3 myoclonic epilepsy, neonatal, with suppression-burst pattern symptomatic early myoclonic encephalopathy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0270855 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:76) 340485 | ACER2 | 2.722 | DISEASES 55331 | ACER3 | 2.357 | DISEASES 151 | ADRA2B | 3.43 | DISEASES 170302 | ARX | 4.319 | DISEASES 427 | ASAH1 | 2.8 | DISEASES 23545 | ATP6V0A2 | 1.505 | DISEASES 139105 | BEND2 | 3.798 | DISEASES 785 | CACNB4 | 2.256 | DISEASES 6792 | CDKL5 | 2.751 | DISEASES 10715 | CERS1 | 2.322 | DISEASES 1106 | CHD2 | 2.826 | DISEASES 51004 | COQ6 | 2.553 | DISEASES 64478 | CSMD1 | 1.829 | DISEASES 1460 | CSNK2B | 2.273 | DISEASES 8029 | CUBN | 1.249 | DISEASES 55157 | DARS2 | 2.506 | DISEASES 148252 | DIRAS1 | 3.705 | DISEASES 1741 | DLG3 | 2.774 | DISEASES 10059 | DNM1L | 1.051 | DISEASES 80258 | EFHC2 | 2.969 | DISEASES 7957 | EPM2A | 2.222 | DISEASES 2066 | ERBB4 | 1.435 | DISEASES 2193 | FARSA | 1.259 | DISEASES 2395 | FXN | 1.378 | DISEASES 2593 | GAMT | 1.623 | DISEASES 2731 | GLDC | 1.858 | DISEASES 132158 | GLYCTK | 3.479 | DISEASES 3710 | ITPR3 | 1.493 | DISEASES 102723508 | KANTR | 2.126 | DISEASES 3766 | KCNJ10 | 1.188 | DISEASES 3785 | KCNQ2 | 5.628 | DISEASES 3786 | KCNQ3 | 2.87 | DISEASES 154881 | KCTD7 | 3.063 | DISEASES 9851 | KIAA0753 | 1.795 | DISEASES 4004 | LMO1 | 1.891 | DISEASES 987 | LRBA | 1.089 | DISEASES 4205 | MEF2A | 1.136 | DISEASES 4208 | MEF2C | 1.232 | DISEASES 51085 | MLXIPL | 1.154 | DISEASES 92399 | MRRF | 1.919 | DISEASES 4508 | MT-ATP6 | 2.067 | DISEASES 4513 | MT-CO2 | 3.146 | DISEASES 4537 | MT-ND3 | 2.61 | DISEASES 4538 | MT-ND4 | 3.932 | DISEASES 4540 | MT-ND5 | 3.175 | DISEASES 4541 | MT-ND6 | 3.077 | DISEASES 4566 | MT-TK | 7.62 | DISEASES 4567 | MT-TL1 | 3.257 | DISEASES 4694 | NDUFA1 | 1.86 | DISEASES 4723 | NDUFV1 | 2.26 | DISEASES 378884 | NHLRC1 | 2.485 | DISEASES 5091 | PC | 1.253 | DISEASES 57526 | PCDH19 | 1.753 | DISEASES 5277 | PIGA | 1.856 | DISEASES 5339 | PLEC | 1.054 | DISEASES 5538 | PPT1 | 1.134 | DISEASES 144165 | PRICKLE1 | 2.34 | DISEASES 57038 | RARS2 | 2.344 | DISEASES 10616 | RBCK1 | 2.103 | DISEASES 26278 | SACS | 2.3 | DISEASES 51091 | SEPSECS | 1.393 | DISEASES 84947 | SERAC1 | 2.206 | DISEASES 6474 | SHOX2 | 1.926 | DISEASES 79751 | SLC25A22 | 4.683 | DISEASES 6513 | SLC2A1 | 2.601 | DISEASES 6541 | SLC7A1 | 1.303 | DISEASES 6622 | SNCA | 1.746 | DISEASES 6635 | SNRPE | 4.272 | DISEASES 81609 | SNX27 | 2.675 | DISEASES 6709 | SPTAN1 | 2.379 | DISEASES 6812 | STXBP1 | 3.98 | DISEASES 7019 | TFAM | 1.836 | DISEASES 51337 | THEM6 | 1.87 | DISEASES 51366 | UBR5 | 1.357 | DISEASES 157680 | VPS13B | 1.363 | DISEASES 7453 | WARS | 1.035 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 525 |
|---|---|
| Disease | early myoclonic encephalopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0002353 | EEG abnormality HP:0001263 | Global developmental delay HP:0012469 | Infantile spasms HP:0001336 | Myoclonus HP:0001347 | Hyperreflexia HP:0001254 | Lethargy HP:0002015 | Dysphagia HP:0011968 | Feeding difficulties HP:0011167 | Focal tonic seizures HP:0002521 | Hypsarrhythmia HP:0001252 | Muscular hypotonia HP:0002033 | Poor suck HP:0002123 | Generalized myoclonic seizures HP:0011168 | Eyelid myoclonias HP:0011153 | Focal motor seizures HP:0200134 | Epileptic encephalopathy HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 525 |
|---|---|
| Disease | early myoclonic encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0025517 | metabolic disorders |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918334 | NA | 79751 | SLC25A22 | umls:C0270855 | CLINVAR | NA | 0.48 | NA | SLC25A22 | 11 | 792429 | G | A |
| rs121918335 | NA | 79751 | SLC25A22 | umls:C0270855 | CLINVAR | NA | 0.48 | NA | SLC25A22 | 11 | 792340 | C | A |
| rs587777243 | NA | 79751 | SLC25A22 | umls:C0270855 | CLINVAR | NA | 0.48 | NA | SLC25A22 | 11 | 792954 | C | G |
| rs797045969 | NA | 79751 | SLC25A22 | umls:C0270855 | CLINVAR | NA | 0.48 | NA | SLC25A22 | 11 | 792722 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| 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:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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: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: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:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0200134 | Epileptic encephalopathy | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002521 | Hypsarrhythmia | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002033 | Poor suck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0012469 | Infantile spasms | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 525 |
|---|---|
| Disease | early myoclonic encephalopathy |
| Case | (Waiting for update.) |