PedAM
Pediatric Disease Annotations & Medicines
| sudden infant death syndrome | ||||
| Disease ID | 51 |
|---|---|
| Disease | sudden infant death syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0005949 | Apneic episodes in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 51 |
|---|---|
| Disease | sudden infant death syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2364133 | infection C2169450 | aspiration of gastric contents C0425449 | gasping C0340076 | pulmonary eosinophilia C0276253 | cytomegalovirus pneumonia C0232305 | right ventricular hypertrophy C0221355 | megalencephaly C0220710 | mcad deficiency C0037315 | sleep apnea C0031256 | petechial hemorrhages C0031256 | petechiae C0029713 | immaturity C0022116 | ischemia C0015934 | fetal growth retardation C0006271 | bronchiolitis C0001883 | airway obstruction |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:37) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116840776 | 23465283 | 859 | CAV3 | umls:C0038644 | BeFree | In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (CAV3 p.C72W, p.T78M; KCNH2 p.R148W, and SCN5A p.S216L, p.V1951L, p.F2004L) were genotyped in our own control population. | 0.12408156 | 2013 | CAV3;SSUH2 | 3 | 8745627 | C | G |
| rs121909281 | 17275750 | 859 | CAV3 | umls:C0038644 | UNIPROT | Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. | 0.12408156 | 2007 | CAV3;SSUH2 | 3 | 8733916 | G | A,C |
| rs137854609 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38581170 | C | T,A |
| rs137854610 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38550895 | C | T |
| rs140348243 | NA | 6330 | SCN4B | umls:C0038644 | CLINVAR | NA | 0.12 | NA | SCN4B | 11 | 118137097 | G | A |
| rs141401803 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150947711 | G | A |
| rs143167166 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150945375 | G | A |
| rs1805123 | 20181576 | 3757 | KCNH2 | umls:C0038644 | BeFree | Our data suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death. | 0.13099709 | 2010 | KCNH2 | 7 | 150948446 | T | G,A |
| rs199472728 | NA | 3784 | KCNQ1 | umls:C0038644 | CLINVAR | NA | 0.12827274 | NA | KCNQ1 | 11 | 2572885 | A | G |
| rs199472768 | NA | 3784 | KCNQ1 | umls:C0038644 | CLINVAR | NA | 0.12827274 | NA | KCNQ1 | 11 | 2587576 | T | C,G |
| rs199472811 | NA | 3784 | KCNQ1 | umls:C0038644 | CLINVAR | NA | 0.12827274 | NA | KCNQ1 | 11 | 2777993 | G | A |
| rs199472817 | NA | 3784 | KCNQ1 | umls:C0038644 | CLINVAR | NA | 0.12827274 | NA | KCNQ1 | 11 | 2778036 | A | G |
| rs199472877 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150958157 | C | T |
| rs199472879 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150958140 | C | T |
| rs199473024 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150947362 | T | C |
| rs199473124 | 11123251 | 6331 | SCN5A | umls:C0038644 | BeFree | A missense mutation of SCN5A that substitutes glutamine for leucine at codon 567 (L567Q, in the cytoplasmic linker between domains I and II) is identified with sudden infant death and Brugada syndrome in one family. | 0.38570849 | 2001 | SCN5A | 3 | 38603902 | A | T |
| rs199473142 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38597952 | C | T |
| rs199473190 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38579474 | C | T,G |
| rs199473434 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150948452 | G | C,A |
| rs199473549 | NA | 3757 | KCNH2 | umls:C0038644 | CLINVAR | NA | 0.13099709 | NA | KCNH2 | 7 | 150958094 | C | A |
| rs199473615 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38555742 | A | G |
| rs199473627 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38551258 | A | G |
| rs199474665 | NA | 4567 | TRNL1 | umls:C0038644 | CLINVAR | NA | 0.12 | NA | NA | MT | 3290 | T | C |
| rs25531 | 24286237 | 6532 | SLC6A4 | umls:C0038644 | BeFree | This article indicates that neither the VNTR in the promoter of the MAOA gene, nor rs25531 in the gene encoding 5-HTT, is involved in SIDS. | 0.225718421 | 2013 | SLC6A4;LOC105371720 | 17 | 30237328 | T | C |
| rs28358582 | NA | 4535 | ND1 | umls:C0038644 | CLINVAR | NA | 0.120271442 | NA | ND1 | MT | 3308 | T | A,C,G |
| rs72466451 | 23823174 | 51182 | HSPA14 | umls:C0038644 | BeFree | Herein, we are the first to investigate whether a functionally impairing and thus pathogenic variant of the gene for Hsp60, encoded by HSPD1 (rs72466451), is correlated with the occurrence of SIDS. | 0.000271442 | 2013 | HSPD1;HSPE1;HSPE1-MOB4 | 2 | 197498763 | T | C |
| rs72546668 | 23465283 | 859 | CAV3 | umls:C0038644 | BeFree | In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (CAV3 p.C72W, p.T78M; KCNH2 p.R148W, and SCN5A p.S216L, p.V1951L, p.F2004L) were genotyped in our own control population. | 0.12408156 | 2013 | CAV3;SSUH2 | 3 | 8745644 | C | A,T |
| rs72546668 | 17060380 | 859 | CAV3 | umls:C0038644 | UNIPROT | Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. | 0.12408156 | 2006 | CAV3;SSUH2 | 3 | 8745644 | C | A,T |
| rs72552292 | 17967976 | 23171 | GPD1L | umls:C0038644 | UNIPROT | Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. | 0.243267234 | 2007 | GPD1L | 3 | 32138608 | G | A |
| rs72552293 | 17967976 | 23171 | GPD1L | umls:C0038644 | UNIPROT | Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. | 0.243267234 | 2007 | GPD1L | 3 | 32140231 | A | G |
| rs72552293 | NA | 23171 | GPD1L | umls:C0038644 | CLINVAR | NA | 0.243267234 | NA | GPD1L | 3 | 32140231 | A | G |
| rs7626962 | 20470418 | 6331 | SCN5A | umls:C0038644 | BeFree | Our data provide evidence that SCN5A allelic expression imbalance occurs in African-Americans heterozygous for p.Ser1103Tyr, but this phenomenon alone does not appear to be a marker for risk of SIDS. | 0.38570849 | 2010 | SCN5A | 3 | 38579416 | G | A,T |
| rs7626962 | 21385947 | 6331 | SCN5A | umls:C0038644 | BeFree | The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African Americans) is a risk factor for arrhythmia, sudden unexplained death (SUD), and sudden infant death syndrome. | 0.38570849 | 2011 | SCN5A | 3 | 38579416 | G | A,T |
| rs7626962 | NA | 6331 | SCN5A | umls:C0038644 | CLINVAR | NA | 0.38570849 | NA | SCN5A | 3 | 38579416 | G | A,T |
| rs7626962 | 18452875 | 6331 | SCN5A | umls:C0038644 | BeFree | Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS cohort (n = 71) revealed the S1103Y polymorphism in 16 (22.5%) of 71 African-American cases of SIDS compared to 135 (11.6%) of 1,161 ostensibly healthy adult African Americans (P = .01). | 0.38570849 | 2008 | SCN5A | 3 | 38579416 | G | A,T |
| rs7626962 | 16453014 | 6331 | SCN5A | umls:C0038644 | BeFree | Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but exposure to acidic intracellular pH levels such as those found in respiratory acidosis--a known risk factor for SIDS--produced abnormal gain-of-function late reopenings of S1103Y channels, behavior that is often associated with cardiac arrhythmias. | 0.38570849 | 2006 | SCN5A | 3 | 38579416 | G | A,T |
| rs80356779 | 23231747 | 1374 | CPT1A | umls:C0038644 | BeFree | CPT1A P479L homozygosity, which has been previously associated with infant mortality in Alaska Native and British Columbia First Nations populations, was associated with unexpected infant death (SIDS/SUDI, infection) throughout Nunavut (OR:3.43, 95% CI:1.30-11.47). | 0.002638474 | 2012 | CPT1A | 11 | 68780662 | 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001667 | Right ventricular hypertrophy | MP:0002953 | thick ventricular wall; | |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011950 | Bronchiolitis | MP:0011250 | abdominal situs ambiguus;HP:0010535 | Sleep apnea |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0038644 | nicotine | D009538 | - | sudden infant death | MESH:D013398 | marker/mechanism | 15980792 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |