eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| jervell and lange-nielsen syndrome | ||||
| Disease ID | 398 |
|---|---|
| Disease | jervell and lange-nielsen syndrome |
| Definition | A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
| Synonym | cardio-auditory syndrome cardio-auditory-syncope syndrome cardioauditory syndrome of jervell and lange nielsen cardioauditory syndrome of jervell and lange-nielsen deafness, congenital, and functional heart disease jervell and lange nielsen syndrome jervell and lange-nielsen syndrome (disorder) jervell and lange-nielsen syndrome 1 jervell and lange-nielson syndrome jervell and lange-nielson syndrome (disorder) jervell and lange-nielson syndrome (finding) jervell lange nielsen syndrome jervell lange nielson syndrome jervell lange-nielsen syndrome jervell-lange nielsen syndrome jervell-lange nielsen syndrome [disease/finding] jlns1 lange-nielsen syndrome prolonged qt interval in ekg and sudden death surdo cardiac syndrome surdo-cardiac syndrome surdo-cardiac syndromes syndrome, jervell-lange nielsen syndrome, surdo-cardiac |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022387 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 398 |
|---|---|
| Disease | jervell and lange-nielsen syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0008527 | Hearing loss, congenital sensorineural HP:0001664 | Torsade de pointes HP:0001657 | Prolonged QT interval HP:0001279 | Syncope HP:0001645 | Sudden cardiac death |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 398 |
|---|---|
| Disease | jervell and lange-nielsen 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:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs120074186 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2572979 | G | A,C,T |
| rs120074189 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2778003 | C | T |
| rs120074190 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2778009 | G | A |
| rs17215500 | 24552659 | 3784 | KCNQ1 | umls:C0022387 | BeFree | The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. | 0.585217807 | 2014 | KCNQ1 | 11 | 2768881 | C | G,T |
| rs397508110 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2527992 | CT | - |
| rs397508117 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2570717 | - | G |
| rs397515637 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2775999 | CAGTAC | GTTGAGA |
| rs606231414 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2570722 | TGCGC | - |
| rs74315445 | 16914890 | 3753 | KCNE1 | umls:C0022387 | BeFree | The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function. | 0.369248887 | 2006 | KCNE1 | 21 | 34449409 | C | T |
| rs74315445 | NA | 3753 | KCNE1 | umls:C0022387 | CLINVAR | NA | 0.369248887 | NA | KCNE1 | 21 | 34449409 | C | T |
| rs74315445 | 16914890 | 9132 | KCNQ4 | umls:C0022387 | BeFree | The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function. | 0.000271442 | 2006 | KCNE1 | 21 | 34449409 | C | T |
| rs74315446 | 16914890 | 3753 | KCNE1 | umls:C0022387 | BeFree | The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function. | 0.369248887 | 2006 | KCNE1 | 21 | 34449414 | G | A |
| rs74315446 | 16914890 | 9132 | KCNQ4 | umls:C0022387 | BeFree | The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function. | 0.000271442 | 2006 | KCNE1 | 21 | 34449414 | G | A |
| rs786204778 | NA | 3784 | KCNQ1 | umls:C0022387 | CLINVAR | NA | 0.585217807 | NA | KCNQ1 | 11 | 2572891 | T | - |
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:0001657 | Prolonged QT interval | MP:0003900 | shortened QT interval | decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| HP:0008527 | Congenital 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:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001279 | Syncope | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001664 | Torsade de pointes | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| HP:0001657 | Prolonged QT interval | 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:0008527 | Congenital sensorineural hearing impairment | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 398 |
|---|---|
| Disease | jervell and lange-nielsen syndrome |
| Case | (Waiting for update.) |