Surfactant Metabolism Dysfunction, Pulmonary, 3; Smdp3

Description

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

Clinical Features

Top most frequent phenotypes and symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 3; Smdp3

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Patent ductus arteriosus
  • Respiratory failure
  • Apnea
  • Abnormal lung morphology
  • Neonatal respiratory distress
  • Tachypnea
  • Chronic lung disease
And another 5 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Surfactant Metabolism Dysfunction, Pulmonary, 3; Smdp3 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
2 %
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
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
4 %
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
13 %
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
7 %
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
13 %
Genes
100 %
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
10 %
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
20 %
Genes
100 %
Childhood Interstitial Lung Disease Panel.

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

NKX2-1, ABCA3, SFTPC
Specificity
34 %
Genes
100 %
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
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
9 %
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
2 %
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
5 %
Genes
100 %
Surfactant Dysfunction Panel.

By Ambry Genetics in United States.

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

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

ABCA3
Specificity
100 %
Genes
100 %
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
7 %
Genes
100 %
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
7 %
Genes
100 %
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
7 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
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
2 %
Genes
100 %
Pulmonary Surfactant Metabolism Dysfunction (sequence analysis of ABCA3 gene).

By CGC Genetics in Portugal.

ABCA3
Specificity
100 %
Genes
100 %
Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes).

By CGC Genetics in Portugal.

SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
15 %
Genes
100 %
Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By PreventionGenetics PreventionGenetics in United States.

ABCA3
Specificity
100 %
Genes
100 %
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
10 %
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
5 %
Genes
100 %
Surfactant metabolism dysfunction panel.

By Centogene AG - the Rare Disease Company in Germany.

SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
15 %
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 3.

By Centogene AG - the Rare Disease Company in Germany.

ABCA3
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
Single gene testing ABCA3.

By CeGaT GmbH in Germany.

ABCA3
Specificity
100 %
Genes
100 %
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
100 %
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
8 %
Genes
100 %
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
2 %
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
6 %
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
15 %
Genes
100 %
Interstitial Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TERT, CSF2RA, ABCA3, SFTPC, SFTPB
Specificity
20 %
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
2 %
Genes
100 %
Surfactant NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA3, SFTPC, SFTPB
Specificity
34 %
Genes
100 %
ABCA3.

By Fulgent Genetics Fulgent Genetics in United States.

ABCA3
Specificity
100 %
Genes
100 %
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
1 %
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
5 %
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
2 %
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
4 %
Genes
100 %
Neonatal Respiratory Distress - Surfactant Dysfunction Panel.

By Blueprint Genetics in Finland.

FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB
Specificity
20 %
Genes
100 %
Surfactant metabolism dysfunction, pulmonary, type 3.

By Bioarray in Spain.

ABCA3
Specificity
100 %
Genes
100 %
INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION).

By Laboratorio de Genetica Clinica SL in Spain.

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

By Reference Laboratory Genetics in Spain.

ABCA3
Specificity
100 %
Genes
100 %
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
12 %
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
17 %
Genes
100 %

Alternate names

Surfactant Metabolism Dysfunction, Pulmonary, 3; Smdp3 Is also known as pulmonary alveolar proteinosis, congenital, 3, interstitial lung disease due to abca3 deficiency;interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency.



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