eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sudden infant death syndrome | ||||
| Disease ID | 249 |
|---|---|
| Disease | sudden infant death syndrome |
| Definition | The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84) |
| Synonym | [d]cot death [d]cot death (context-dependent category) [d]cot death (situation) [d]crib death [d]crib death (context-dependent category) [d]crib death (situation) [d]sudden infant death syndrome [d]sudden infant death syndrome (context-dependent category) [d]sudden infant death syndrome (situation) [d]sudden infant death syndrome nos [d]sudden infant death syndrome nos (context-dependent category) [d]sudden infant death syndrome nos (situation) cot death cot death (event) cot deaths crib death crib deaths death infant sudden death sudden infant death, cot death, crib death, sudden infant infant death sudden infant death, sudden sid sids sids - sudden infant death syndrome sudden death in infants sudden death of nonspecific cause in infancy sudden infant death sudden infant death [disease/finding] sudden infant death synd sudden infant death syndrome (finding) sudden infant death syndrome (sids) unexpected sudden death of infant |
| OMIM | |
| DOID | |
| UMLS | C0038644 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0038644 | sudden infant death | 43 C0038644 | sudden infant death syndrome | 37 C0023976 | long qt syndrome | 1 C0242379 | lung cancer | 1 C0018799 | cardiac disorders | 1 C1145670 | respiratory failure | 1 C0085131 | gm1 gangliosidosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:11) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:29) 116 | ADCYAP1 | CIPHER 153 | ADRB1 | CIPHER 348 | APOE | CIPHER 361 | AQP4 | CIPHER 1543 | CYP1A1 | CIPHER 2328 | FMO3 | CIPHER 2952 | GSTT1 | CIPHER 3586 | IL10 | CIPHER 3553 | IL1B | CIPHER 3557 | IL1RN | CIPHER 3569 | IL6 | CIPHER 3757 | KCNH2 | CIPHER 3784 | KCNQ1 | CIPHER 4128 | MAOA | CIPHER 9722 | NOS1AP | CIPHER 6331 | SCN5A | CIPHER;CTD_human 653509 | SFTPA1 | CIPHER 729238 | SFTPA2 | CIPHER 6441 | SFTPD | CIPHER 6531 | SLC6A3 | CIPHER 6532 | SLC6A4 | CIPHER;CTD_human 7054 | TH | CIPHER 7124 | TNF | CIPHER 121278 | TPH2 | CIPHER 7259 | TSPYL1 | CIPHER 7350 | UCP1 | CIPHER 1141 | CHRNB2 | CTD_human 6324 | SCN1B | CTD_human 1139 | CHRNA7 | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:102) 34 | ACADM | 1.464 | DISEASES 37 | ACADVL | 2.62 | DISEASES 116 | ADCYAP1 | 4.275 | DISEASES 199800 | ADM5 | 2.54 | DISEASES 152 | ADRA2C | 2.003 | DISEASES 177 | AGER | 1.188 | DISEASES 361 | AQP4 | 1.551 | DISEASES 493 | ATP2B4 | 1.659 | DISEASES 9031 | BAZ1B | 2.071 | DISEASES 79738 | BBS10 | 1.651 | DISEASES 617 | BCS1L | 2.67 | DISEASES 627 | BDNF | 1.847 | DISEASES 859 | CAV3 | 3.253 | DISEASES 875 | CBS | 1.542 | DISEASES 6364 | CCL20 | 1.187 | DISEASES 959 | CD40LG | 1.849 | DISEASES 1103 | CHAT | 2.366 | DISEASES 1137 | CHRNA4 | 3.037 | DISEASES 9793 | CKAP5 | 4.476 | DISEASES 25999 | CLIP3 | 1.658 | DISEASES 79827 | CLMP | 1.729 | DISEASES 80347 | COASY | 1.64 | DISEASES 1431 | CS | 1.037 | DISEASES 56259 | CTNNBL1 | 3.389 | DISEASES 1558 | CYP2C8 | 1.824 | DISEASES 199699 | DAND5 | 2.017 | DISEASES 1621 | DBH | 2.248 | DISEASES 1755 | DMBT1 | 2.088 | DISEASES 1791 | DNTT | 1.642 | DISEASES 1805 | DPT | 2.857 | DISEASES 1892 | ECHS1 | 1.734 | DISEASES 2010 | EMD | 2.125 | DISEASES 2110 | ETFDH | 1.694 | DISEASES 2195 | FAT1 | 1.915 | DISEASES 26190 | FBXW2 | 1.349 | DISEASES 2232 | FDXR | 1.658 | DISEASES 2596 | GAP43 | 2.517 | DISEASES 2764 | GMFB | 1.622 | DISEASES 26354 | GNL3 | 1.49 | DISEASES 2875 | GPT | 1.299 | DISEASES 2897 | GRIK1 | 1.324 | DISEASES 3030 | HADHA | 1.749 | DISEASES 3032 | HADHB | 1.492 | DISEASES 3304 | HSPA1B | 1.676 | DISEASES 3329 | HSPD1 | 1.524 | DISEASES 3356 | HTR2A | 2.05 | DISEASES 3359 | HTR3A | 1.247 | DISEASES 3363 | HTR7 | 2.773 | DISEASES 10525 | HYOU1 | 2.344 | DISEASES 3434 | IFIT1 | 1.291 | DISEASES 3433 | IFIT2 | 1.743 | DISEASES 3476 | IGBP1 | 1.345 | DISEASES 3586 | IL10 | 2.277 | DISEASES 10989 | IMMT | 1.108 | DISEASES 3753 | KCNE1 | 2.441 | DISEASES 3766 | KCNJ10 | 1.908 | DISEASES 3775 | KCNK1 | 2.021 | DISEASES 3776 | KCNK2 | 1.34 | DISEASES 4010 | LMX1B | 2.949 | DISEASES 54551 | MAGEL2 | 1.699 | DISEASES 57134 | MAN1C1 | 1.761 | DISEASES 4128 | MAOA | 3.441 | DISEASES 4133 | MAP2 | 1.446 | DISEASES 8972 | MGAM | 3.152 | DISEASES 4519 | MT-CYB | 1.979 | DISEASES 4537 | MT-ND3 | 1.324 | DISEASES 4538 | MT-ND4 | 1.146 | DISEASES 4567 | MT-TL1 | 1.515 | DISEASES 4649 | MYO9A | 2.498 | DISEASES 89796 | NAV1 | 1.907 | DISEASES 65065 | NBEAL1 | 2.795 | DISEASES 4734 | NEDD4 | 1.057 | DISEASES 9722 | NOS1AP | 1.512 | DISEASES 594857 | NPS | 2.988 | DISEASES 10846 | PDE10A | 1.174 | DISEASES 55124 | PIWIL2 | 1.306 | DISEASES 56342 | PPAN | 1.441 | DISEASES 5537 | PPP6C | 1.255 | DISEASES 6262 | RYR2 | 2.444 | DISEASES 6280 | S100A9 | 1.361 | DISEASES 6324 | SCN1B | 2.766 | DISEASES 6330 | SCN4B | 2.157 | DISEASES 6331 | SCN5A | 5.275 | DISEASES 729238 | SFTPA2 | 1.169 | DISEASES 25942 | SIN3A | 1.665 | DISEASES 23309 | SIN3B | 2.443 | DISEASES 57468 | SLC12A5 | 1.114 | DISEASES 55315 | SLC29A3 | 1.072 | DISEASES 6863 | TAC1 | 3.673 | DISEASES 7054 | TH | 3.073 | DISEASES 7124 | TNF | 1.635 | DISEASES 121278 | TPH2 | 2.518 | DISEASES 7442 | TRPV1 | 1.009 | DISEASES 7259 | TSPYL1 | 4.246 | DISEASES 203068 | TUBB | 1.421 | DISEASES 7311 | UBA52 | 1.445 | DISEASES 91544 | UBXN11 | 2.923 | DISEASES 10497 | UNC13B | 1.948 | DISEASES 7432 | VIP | 2.319 | DISEASES 7433 | VIPR1 | 1.047 | DISEASES 9189 | ZBED1 | 6.105 | DISEASES 100128252 | ZNF667-AS1 | 3.137 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 249 |
|---|---|
| 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:13) HP:0001657 | Prolonged QT interval | 2 HP:0011675 | Arrhythmias | 2 HP:0002098 | Respiratory distress | 1 HP:0002718 | Recurrent pyogenic infections | 1 HP:0002878 | Respiratory failure | 1 HP:0002791 | Under breathing | 1 HP:0002615 | Low blood pressure | 1 HP:0008715 | Testicular dysgenesis | 1 HP:0001317 | Abnormality of the cerebellum | 1 HP:0001945 | Fever | 1 HP:0100845 | Anaphylactic shock | 1 HP:0000967 | Petechiae | 1 HP:0005184 | Prolonged QTc interval | 1 |
| Disease ID | 249 |
|---|---|
| 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 | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005949 | Apneic episodes in infancy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| Disease ID | 249 |
|---|---|
| Disease | sudden infant death syndrome |
| Case | (Waiting for update.) |