Respiratory Distress Syndrome In Premature Infants

Description

The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by Ramet et al., 2000; Clark and Clark, 2005).Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (OMIM ) and SFTPC (OMIM ), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, {265120}). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1 ), SFTPB, and SFTPC (see MOLECULAR GENETICS).

Clinical Features

Phenotypes and symptoms related to Respiratory Distress Syndrome In Premature Infants

  • Respiratory distress
  • Premature birth
  • Neonatal respiratory distress
  • Tachypnea
  • Atelectasis
  • Pulmonary edema
  • Disseminated intravascular coagulation

Incidence and onset information

— Based on the latest data available Respiratory Distress Syndrome In Premature Infants have a estimated prevalence of 20 per 100k worldwide.


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Respiratory Distress Syndrome In Premature Infants Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
100 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
38 %
Genes
100 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, FOXF1, TINF2, SLC7A7, DKC1, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
19 %
Genes
100 %
Pulmonary Alveolar Proteinosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
38 %
Genes
100 %
Neonatal Respiratory Distress NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
60 %
Genes
100 %
Basic Fibrosis Panel (12 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1
Specificity
25 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
100 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
100 %
Surfactant Dysfunction Panel.

By Ambry Genetics in United States.

ABCA3, SFTPC, SFTPB
Specificity
100 %
Genes
100 %
SFTPB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SFTPB
Specificity
100 %
Genes
34 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
67 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
67 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA
Specificity
13 %
Genes
67 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
67 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
67 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
4 %
Genes
67 %
Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes).

By CGC Genetics in Portugal.

SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
43 %
Genes
100 %
Pulmonary surfactant metabolism dysfunction 1 (sequence analysis of SFTPB gene).

By CGC Genetics in Portugal.

SFTPB
Specificity
100 %
Genes
34 %
Surfactant protein B, Surfactant protein C.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

SFTPC, SFTPB
Specificity
100 %
Genes
67 %
Surfactant Protein B Deficiency via the SFTPB Gene.

By PreventionGenetics PreventionGenetics in United States.

SFTPB
Specificity
100 %
Genes
34 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
30 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
100 %
Surfactant metabolism dysfunction panel.

By Centogene AG - the Rare Disease Company in Germany.

SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
43 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Surfactant metabolism dysfunction type 1.

By Centogene AG - the Rare Disease Company in Germany.

SFTPB
Specificity
100 %
Genes
34 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
5 %
Genes
100 %
Single gene testing SFTPB.

By CeGaT GmbH in Germany.

SFTPB
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction, pulmonary, 1:SFTPB gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SFTPB
Specificity
100 %
Genes
34 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TERC, TERT, SFTPD, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2, DMBT1, FOXA2, FOXA1
Specificity
24 %
Genes
100 %
SFTPB - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

SFTPB
Specificity
100 %
Genes
34 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
6 %
Genes
100 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS4, HPS3, AP3B1, BLOC1S6, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
18 %
Genes
100 %
Interstitial Lung Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, NKX1-1
Specificity
43 %
Genes
100 %
Interstitial Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, ABCA3, SFTPC, SFTPB
Specificity
60 %
Genes
100 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
6 %
Genes
100 %
Surfactant NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA3, SFTPC, SFTPB
Specificity
100 %
Genes
100 %
SFTPB.

By Fulgent Genetics Fulgent Genetics in United States.

SFTPB
Specificity
100 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
2 %
Genes
100 %
Hermansky-Pudlak Syndrome Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
100 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
5 %
Genes
100 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
100 %
Neonatal Respiratory Distress - Surfactant Dysfunction Panel.

By Blueprint Genetics in Finland.

FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
60 %
Genes
100 %
Surfactant metabolism dysfunction, pulmonary, type 1.

By Bioarray in Spain.

SFTPB
Specificity
100 %
Genes
34 %
INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION).

By Laboratorio de Genetica Clinica SL in Spain.

ABCA3, SFTPC, SFTPB
Specificity
100 %
Genes
100 %
Pulmonary Surfactant Metabolism Dysfunction Type 1 , Sequencing SFTPB Gene.

By Reference Laboratory Genetics in Spain.

SFTPB
Specificity
100 %
Genes
34 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

TERC, TERT, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
34 %
Genes
100 %
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
50 %
Genes
100 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SMAD4, ENG, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
34 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HPS1, HPS4, AP3B1, TINF2, DKC1, TERC, TERT, NKX2-1, ABCA3, SFTPC, SFTPA2
Specificity
19 %
Genes
67 %
Childhood Interstitial Lung Disease Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

NKX2-1, ABCA3, SFTPC
Specificity
67 %
Genes
67 %
Pulmonary Arterial Hypertension Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SMAD4, ENG, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
34 %
ABCA3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCA3
Specificity
100 %
Genes
34 %
Pulmonary Surfactant Metabolism Dysfunction (sequence analysis of ABCA3 gene).

By CGC Genetics in Portugal.

ABCA3
Specificity
100 %
Genes
34 %
Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene).

By CGC Genetics in Portugal.

ABCA3
Specificity
100 %
Genes
34 %
Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene).

By CGC Genetics in Portugal.

ABCA3
Specificity
100 %
Genes
34 %
Surfactant Deficiency via the ABCA3 Gene.

By PreventionGenetics PreventionGenetics in United States.

ABCA3
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction type 3.

By Centogene AG - the Rare Disease Company in Germany.

ABCA3
Specificity
100 %
Genes
34 %
Single gene testing ABCA3.

By CeGaT GmbH in Germany.

ABCA3
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction, pulmonary, 3:ABCA3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCA3
Specificity
100 %
Genes
34 %
ABCA3.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA3
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction, pulmonary, type 3.

By Bioarray in Spain.

ABCA3
Specificity
100 %
Genes
34 %
Pulmonary Surfactant Metabolism Dysfunction Type 3 , Sequencing ABCA3 Gene.

By Reference Laboratory Genetics in Spain.

ABCA3
Specificity
100 %
Genes
34 %
SFTPC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SFTPC
Specificity
100 %
Genes
34 %
SFTPC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SFTPC
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction pulmonary 2 (sequence analysis of SFTPC gene).

By CGC Genetics in Portugal.

SFTPC
Specificity
100 %
Genes
34 %
Surfactant Protein C Deficiency via SFTPC Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SFTPC
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction type 2.

By Centogene AG - the Rare Disease Company in Germany.

SFTPC
Specificity
100 %
Genes
34 %
Single gene testing SFTPC.

By CeGaT GmbH in Germany.

SFTPC
Specificity
100 %
Genes
34 %
Pulmonary fibrosis, idiopathic: SFTPC gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SFTPC
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction, pulmonary, 2:SFTPC gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SFTPC
Specificity
100 %
Genes
34 %
SFTPC.

By Fulgent Genetics Fulgent Genetics in United States.

SFTPC
Specificity
100 %
Genes
34 %
Chronic respiratory distress with surfactant metabolism deficiency.

By Bioarray in Spain.

SFTPC
Specificity
100 %
Genes
34 %
Pulmonary fibrosis, idiopathic.

By Bioarray in Spain.

SFTPC
Specificity
100 %
Genes
34 %
Surfactant metabolism dysfunction, pulmonary, type 2.

By Bioarray in Spain.

SFTPC
Specificity
100 %
Genes
34 %
Idiopathic Pulmonary Fibrosis , Sequencing SFTPC Gene.

By Reference Laboratory Genetics in Spain.

SFTPC
Specificity
100 %
Genes
34 %

Alternate names

Respiratory Distress Syndrome In Premature Infants Is also known as rds of prematurity, hyaline membrane disease, formerly;hyaline membrane disease; infant ards; infant respiratory distress syndrome; neonatal respiratory distress syndrome.



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