eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| respiratory distress syndrome, infant | ||||
| Disease ID | 1150 |
|---|---|
| Disease | respiratory distress syndrome, infant |
| Definition | a condition of the newborn marked by dyspnea with cyanosis, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, most frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause. |
| Synonym | cardiorespiratory distress syndrome of newborn congenital alveolar dysplasia distress respiratory syndrome distress respiratory syndrome newborn distress respiratory syndromes idiopathic respiratory distress of newborn idiopathic respiratory distress syndrome idiopathic respiratory distress syndrome (disorder) idiopathic respiratory distress syndrome [irds or rds] of newborn idiopathic respiratory distress syndrome of newborn idiopathic respiratory distress syndrome, nos infant respiratory distress syndrome infantile respiratory distress syndrome irds - idiopathic respiratory distress syndrome irds of newborn neonatal respiratory distress neonatal respiratory distress syndrome newborn respiratory distress syndrome newborns (rds), respiratory distress syndrome of pulmonary hypoperfusion syndrome of newborn rds rds - respiratory distress syndrome of newborn rds of newborn rds of newborns rds, respiratory distress syndrome of newborns resp distress syndrome neonatal respiratory distress syn respiratory distress syndrome respiratory distress syndrome in neonate respiratory distress syndrome in newborn respiratory distress syndrome in the newborn respiratory distress syndrome in the newborn (disorder) respiratory distress syndrome newborn respiratory distress syndrome of newborn respiratory distress syndrome of newborn (disorder) respiratory distress syndrome of newborns respiratory distress syndrome of newborns (rds) respiratory distress syndrome, idiopathic respiratory distress syndrome, neonatal respiratory distress syndrome, newborn respiratory distress syndrome, newborn [disease/finding] respiratory distress syndrome, perinatal respiratory syndrome distress surfactant deficiency syndrome neonatal syndrome of newborns (rds), respiratory distress syndrome respiratory distress newborn wet lung disease of newborn |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0035220 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:90) C0032285 | pneumonia | 24 C0021400 | influenza | 17 C1145670 | respiratory failure | 13 C0041296 | tuberculosis | 9 C0041321 | miliary tuberculosis | 7 C0041471 | typhus | 6 C0020542 | pulmonary hypertension | 5 C0034063 | pulmonary edema | 5 C0036472 | scrub typhus | 5 C0032326 | pneumothorax | 4 C0024530 | malaria | 4 C0032310 | viral pneumonia | 4 C0035229 | respiratory insufficiency | 3 C0020538 | hypertension | 3 C0041327 | pulmonary tuberculosis | 3 C0034069 | pulmonary fibrosis | 2 C0034072 | cor pulmonale | 2 C0032285 | lung inflammation | 2 C0026934 | mycoplasma | 2 C0001339 | acute pancreatitis | 2 C0028754 | obesity | 2 C0042769 | virus infection | 2 C0032302 | mycoplasma pneumonia | 2 C0009324 | ulcerative colitis | 2 C0085652 | pyoderma gangrenosum | 1 C0376358 | prostate cancer | 1 C0024537 | plasmodium vivax malaria | 1 C0242966 | systemic inflammatory response syndrome | 1 C0442874 | neuropathy | 1 C0152021 | congenital heart disease | 1 C0032285 | pneumoniae | 1 C0865849 | diffuse pulmonary fibrosis | 1 C0019101 | hemorrhagic fever with renal syndrome | 1 C0001815 | primary myelofibrosis | 1 C0020676 | hypothyroidism | 1 C0018799 | heart disease | 1 C0339964 | pulmonary blastomycosis | 1 C0025289 | meningitis | 1 C0040034 | thrombocytopenia | 1 C0032285 | pneumonitis | 1 C0037315 | sleep apnea | 1 C0206141 | hypereosinophilic syndrome | 1 C0265706 | gastroschisis | 1 C0153676 | lung metastases | 1 C0006060 | mediterranean spotted fever | 1 C0343525 | lemierre's syndrome | 1 C0011849 | diabetes mellitus | 1 C0009319 | colitis | 1 C0019100 | dengue hemorrhagic fever | 1 C0025295 | pneumococcal meningitis | 1 C0033860 | psoriasis | 1 C0270921 | axonal neuropathy | 1 C0005716 | blastomycosis | 1 C0085399 | ehrlichiosis | 1 C0028756 | morbid obesity | 1 C0004626 | bacterial pneumonia | 1 C0085083 | ovarian hyperstimulation syndrome | 1 C0030305 | pancreatitis | 1 C0036472 | tsutsugamushi | 1 C0030312 | pancytopenia | 1 C0016627 | avian influenza | 1 C0032319 | pneumopericardium | 1 C0042075 | urologic disease | 1 C0011847 | diabetes | 1 C0206141 | idiopathic hypereosinophilic syndrome | 1 C0031046 | pericarditis | 1 C0024110 | lung abscess | 1 C0343386 | clostridium difficile infection | 1 C0013990 | emphysema | 1 C0042075 | urologic diseases | 1 C1456669 | neurologic diseases | 1 C0024537 | vivax malaria | 1 C0376545 | hematological malignancies | 1 C0038041 | spotted fever | 1 C0011860 | type ii diabetes mellitus | 1 C0037315 | sleep apnea syndrome | 1 C0024115 | lung disease | 1 C0020456 | hyperglycemia | 1 C0006287 | bronchopulmonary dysplasia | 1 C0023418 | leukemia | 1 C0032290 | aspiration pneumonia | 1 C0003467 | anxiety | 1 C0024115 | pulmonary diseases | 1 C0011880 | diabetic ketoacidosis | 1 C0085253 | adult onset still's disease | 1 C0024115 | pulmonary disease | 1 C0026703 | mucopolysaccharidosis | 1 C0026705 | mucopolysaccharidosis type ii | 1 C0001815 | myelofibrosis | 1 C0034212 | pyoderma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:53) 2 | A2M | 2.033 | DISEASES 408 | ARRB1 | 1.286 | DISEASES 796 | CALCA | 2.131 | DISEASES 813 | CALU | 2.189 | DISEASES 1325 | CORT | 1.173 | DISEASES 55510 | DDX43 | 1.933 | DISEASES 1759 | DNM1 | 1.536 | DISEASES 1906 | EDN1 | 1.404 | DISEASES 2152 | F3 | 1.875 | DISEASES 2155 | F7 | 1.064 | DISEASES 2248 | FGF3 | 1.44 | DISEASES 2520 | GAST | 1.213 | DISEASES 3586 | IL10 | 1.714 | DISEASES 7850 | IL1R2 | 1.716 | DISEASES 27124 | INPP5J | 2.566 | DISEASES 3638 | INSIG1 | 1.654 | DISEASES 9670 | IPO13 | 2.567 | DISEASES 3980 | LIG3 | 1.04 | DISEASES 154141 | MBOAT1 | 3.278 | DISEASES 83552 | MFRP | 1.823 | DISEASES 4295 | MLN | 2.489 | DISEASES 4312 | MMP1 | 1.366 | DISEASES 4477 | MSMB | 1.332 | DISEASES 4638 | MYLK | 1.218 | DISEASES 7080 | NKX2-1 | 3.086 | DISEASES 387129 | NPSR1 | 1.748 | DISEASES 9468 | PCYT1B | 4.164 | DISEASES 5203 | PFDN4 | 2.414 | DISEASES 5228 | PGF | 1.731 | DISEASES 8399 | PLA2G10 | 2.22 | DISEASES 5320 | PLA2G2A | 1.952 | DISEASES 5406 | PNLIP | 1.756 | DISEASES 253260 | RICTOR | 2.172 | DISEASES 6280 | S100A9 | 1.781 | DISEASES 10284 | SAP18 | 3.291 | DISEASES 6337 | SCNN1A | 2.087 | DISEASES 51150 | SDF4 | 1.205 | DISEASES 5265 | SERPINA1 | 1.038 | DISEASES 6906 | SERPINA7 | 1.035 | DISEASES 462 | SERPINC1 | 2.72 | DISEASES 871 | SERPINH1 | 2.912 | DISEASES 253970 | SFTA3 | 2.751 | DISEASES 653509 | SFTPA1 | 1.796 | DISEASES 729238 | SFTPA2 | 3.503 | DISEASES 6439 | SFTPB | 5.913 | DISEASES 140885 | SIRPA | 1.32 | DISEASES 26503 | SLC17A5 | 1.162 | DISEASES 25830 | SULT4A1 | 2.461 | DISEASES 129685 | TAF8 | 2.226 | DISEASES 7273 | TTN | 3.266 | DISEASES 117581 | TWIST2 | 1.696 | DISEASES 7321 | UBE2D1 | 1.261 | DISEASES 7432 | VIP | 1.252 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1150 |
|---|---|
| Disease | respiratory distress syndrome, infant |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C1145670 | respiratory failure | 13 C0034063 | pulmonary edema | 5 C0020542 | pulmonary hypertension | 4 C0013922 | embolism | 2 C0948755 | pulmonary failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1130866 | 11063734 | 653509 | SFTPA1 | umls:C0035220 | BeFree | We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). | 0.088067311 | 2000 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 11063734 | 729238 | SFTPA2 | umls:C0035220 | BeFree | We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). | 0.007795869 | 2000 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 17142161 | 653509 | SFTPA1 | umls:C0035220 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.088067311 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 11063734 | 6439 | SFTPB | umls:C0035220 | BeFree | We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). | 0.10890366 | 2000 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 17142161 | 6439 | SFTPB | umls:C0035220 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.10890366 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 17142161 | 729238 | SFTPA2 | umls:C0035220 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.007795869 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs121917834 | 18317237 | 6439 | SFTPB | umls:C0035220 | BeFree | The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown. | 0.10890366 | 2008 | SFTPC | 8 | 22163096 | T | A,C |
| rs121917834 | 18317237 | 6440 | SFTPC | umls:C0035220 | BeFree | We determined the frequencies of these mutations in ethnically diverse population and disease-based cohorts using restriction enzyme analysis (121ins2 and E292V) and a 5' nuclease assay (I73T) in DNA samples from population-based cohorts in Missouri, Norway, South Korea, and South Africa, and from a case-control cohort of newborns with and without RDS (n = 420). | 0.087991366 | 2008 | SFTPC | 8 | 22163096 | T | A,C |
| rs149989682 | 18317237 | 21 | ABCA3 | umls:C0035220 | BeFree | We did not identify other loss of function mutations in ABCA3 among patients with E292V that would account for their RDS. | 0.008262808 | 2008 | ABCA3 | 16 | 2317763 | T | A,C |
| rs149989682 | 22145626 | 21 | ABCA3 | umls:C0035220 | BeFree | Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. | 0.008262808 | 2012 | ABCA3 | 16 | 2317763 | T | A,C |
| rs1799983 | 23359565 | 4846 | NOS3 | umls:C0035220 | BeFree | Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome. | 0.002909916 | 2012 | NOS3 | 7 | 150999023 | T | G |
| rs28451617 | 22445700 | 115 | ADCY9 | umls:C0035220 | BeFree | Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6). | 0.000271442 | 2012 | CYP3A7;ZSCAN25;CYP3A7-CYP3A51P | 7 | 99735142 | C | T |
| rs28451617 | 22445700 | 1577 | CYP3A5 | umls:C0035220 | BeFree | Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6). | 0.000271442 | 2012 | CYP3A7;ZSCAN25;CYP3A7-CYP3A51P | 7 | 99735142 | C | T |
GWASdb Annotation(Total Genotypes:5) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 22 | 37407527 | rs5756477 | NM_003312,TST | ENST00000249042,ENSG00000128311 | ENST00000403892,ENSG00000128311 | ENST00000413912,ENSG00000128311 | MCV-2 | NA | NA | NA | LM7,5.4012 | LM23,3.5785 | LM30,1.6651 | LM103,1.2606 | LM151,1.383 | NA | NA | NA | NA | NA | NA | 0.000 | 0.025 | -0.273 | R1 | C | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | UPSTREAM | 859 |
| 22 | 37408135 | rs130598 | NM_003312,TST | ENST00000249042,ENSG00000128311 | ENST00000403892,ENSG00000128311 | ENST00000413912,ENSG00000128311 | MCV-1 | NA | NA | NA | Rds1-primary,2.5832 | Six2_2307,2.5736 | Six6_2267,2.4267 | Six6_2267,1.8615 | Ume6-primary,1.5875 | NA | NA | NA | NA | NA | NA | 0.000 | -2.957 | -5.82 | TF0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | UPSTREAM | 860 |
| 22 | 37408719 | rs130599 | NM_003312,TST | ENST00000249042,ENSG00000128311 | ENST00000403892,ENSG00000128311 | ENST00000413912,ENSG00000128311 | ENST00000516603,ENSG00000252412 | NA | NA | NA | NA | Met32-primary,1.6707 | Pou6f1_3733,2.8478 | Put3-primary,3.0634 | Rds1-primary,1.7568 | Skn7-primary,5.0717 | NA | NA | NA | NA | NA | NA | 0.000 | 0.022 | -0.14 | TF2 | C | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | UPSTREAM |
| 22 | 37410967 | rs130607 | NM_003312,TST | ENST00000249042,ENSG00000128311 | ENST00000403892,ENSG00000128311 | ENST00000413912,ENSG00000128311 | CHMM | TFP.ZNF263 | NA | chr22,37410001,37420000,chr17,17360001,17370000,5,Hi-C | chr22,37410001,37420000,chr22,25330001,25340000,9,Hi-C | NA | Aro80-primary,5.269 | Cha4-primary,19.2144 | Fhl1-DBD-primary,1.6492 | Gal4-primary,9.7829 | Gal4-primary,9.7829 | NA | NA | NA | NA | NA | NA | 0.000 | -0.767 | -3.94 | GM1 | C | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 22 | 37412967 | rs5750370 | NM_003312,TST | ENST00000249042,ENSG00000128311 | ENST00000403892,ENSG00000128311 | ENST00000413912,ENSG00000128311 | NA | NA | chr22,37410001,37420000,chr17,17360001,17370000,5,Hi-C | chr22,37410001,37420000,chr22,25330001,25340000,9,Hi-C | NA | LM6,1.3742 | LM7,1.8599 | LM47,1.2948 | LM146,4.0294 | LM179,1.9712 | NA | NA | NA | NA | NA | NA | 0.021 | 0.403 | 1.36 | GM1 | G | NA | NA | NA | 0.350 | 0.550 | 0.300 | 0.210 | 0.300 | Intergenic | UPSTREAM |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1150 |
|---|---|
| Disease | respiratory distress syndrome, infant |
| Case | (Waiting for update.) |