eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| east syndrome | ||||
| Disease ID | 1096 |
|---|---|
| Disease | east syndrome |
| Definition | Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive. |
| Synonym | epilepsy, ataxia, sensorineural deafness and tubulopathy epilepsy, ataxia, sensorineural deafness, and tubulopathy seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome sesame syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2748572 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) KCNJ10 | 1q23.2 |
| Disease ID | 1096 |
|---|---|
| Disease | east syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0001251 | Ataxia HP:0002342 | Intellectual disability, moderate HP:0001508 | Failure to thrive HP:0012103 | Abnormality of the mitochondrion HP:0000407 | Sensorineural hearing impairment HP:0000091 | Abnormality of the renal tubule |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1096 |
|---|---|
| Disease | east 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853066 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042339 | C | T,G |
| rs137853067 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160041938 | G | A |
| rs137853068 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042115 | A | G |
| rs137853069 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042042 | G | A |
| rs137853070 | 24561201 | 3766 | KCNJ10 | umls:C2748572 | BeFree | The Kir4.1 A167V mutation associated with EAST/SeSAME syndrome caused mistrafficking of the mutant channels and inhibited their expression on the basolateral surface of tubular cells. | 0.563800186 | 2014 | KCNJ10 | 1 | 160042033 | G | A |
| rs137853070 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042033 | G | A |
| rs137853071 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160041644 | G | A |
| rs137853072 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042304 | C | G |
| rs138943405 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042457 | G | A |
| rs387906834 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042340 | G | A |
| rs397514673 | NA | 3766 | KCNJ10 | umls:C2748572 | CLINVAR | NA | 0.563800186 | NA | KCNJ10 | 1 | 160042009 | C | T |
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:0000091 | Abnormality of the renal tubule | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000407 | Sensorineural hearing impairment | 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:0001508 | Failure to thrive | 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: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:0002342 | Intellectual disability, moderate | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001251 | Ataxia | 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:0012103 | Abnormality of the mitochondrion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000091 | Abnormality of the renal tubule | 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 |
| Disease ID | 1096 |
|---|---|
| Disease | east syndrome |
| Case | (Waiting for update.) |