ABCA3 gene related symptoms and diseases

All the information presented here about the ABCA3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET.

Top 5 symptoms associated to ABCA3 gene



Symptoms // Phenotype % Cases
Respiratory distress Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Congenital onset Common - Between 50% and 80% cases
Respiratory failure Common - Between 50% and 80% cases
Neonatal respiratory distress Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with ABCA3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Tachypnea

Not very common - Between 30% and 50% cases

Autosomal dominant inheritance Disseminated intravascular coagulation Reticular pattern on pulmonary HRCT Ground-glass opacification on pulmonary HRCT Sporadic Premature birth Multifactorial inheritance

And 41 more phenotypes.

Mendelian

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Rare diseases associated to ABCA3 gene

Here you will find a list of rare diseases related to the ABCA3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PULMONARY FIBROSIS, IDIOPATHIC; IPF

Alternate names

PULMONARY FIBROSIS, IDIOPATHIC; IPF Is also known as idiopathic pulmonary fibrosis, familial, fibrosing alveolitis, cryptogenic, fibrocystic pulmonary dysplasia, interstitial pneumonitis, usual;uip;cfa; cryptogenic fibrosing alveolitis; uip; usual interstitial pneumonia

Description

Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'pulmonary pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000).Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (OMIM ) or the TERC (OMIM ) gene; see PFBMFT1 (OMIM ) and PFBMFT2 (OMIM ).Some patients with surfactant protein C deficiency (OMIM ) who survive to adulthood manifest features of pulmonary fibrosis.

Most common symptoms of PULMONARY FIBROSIS, IDIOPATHIC; IPF

  • Autosomal dominant inheritance
  • Milia
  • Neoplasm
  • Hypertension
  • Respiratory insufficiency


More info about PULMONARY FIBROSIS, IDIOPATHIC; IPF

SOURCES: COHD OMIM NCIT DOID MONDO ORPHANET GARD ICD10

RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS

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

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).

Most common symptoms of RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS

  • Respiratory distress
  • Congenital onset
  • Sporadic
  • Premature birth
  • Neonatal respiratory distress


More info about RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS

SOURCES: NCIT EFO OMIM ORPHANET ICD10 GARD UMLS SCTID DOID ICD9 MONDO

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3

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

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.

Most common symptoms of SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3

  • Autosomal recessive inheritance
  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Patent ductus arteriosus


More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3

SOURCES: ORPHANET OMIM UMLS

Potential gene panels for ABCA3 gene

Comprehensive Pulmonary Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Comprehensive Pulmonary Panel that also includes the following genes: INVS FBLN5 ELN DTNBP1 RPGR HPS1 BLOC1S3 HPS6 HPS5 HPS4

More info about this panel

Arterial Hypertension Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Arterial Hypertension Panel that also includes the following genes: SMAD4 ENG ACVRL1 BMPR1B GDF2 KCNK3 CAV1 SMAD9 KCNA5 ABCA3

More info about this panel

Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: DTNBP1 HPS1 BLOC1S3 HPS6 HPS5 HPS4 HPS3 AP3B1 TINF2 RTEL1

More info about this panel

Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel that also includes the following genes: FOXF1 SLC7A7 CSF2RA CSF2RB NKX2-1 ABCA3 SFTPC SFTPB

More info about this panel

Diffuse Lung Disease NGS Panel Panel

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. Diffuse Lung Disease NGS Panel that also includes the following genes: HPS1 HPS4 AP3B1 FOXF1 TINF2 SLC7A7 DKC1 TERC TERT CSF2RA

More info about this panel

Pulmonary Alveolar Proteinosis NGS Panel Panel

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. Pulmonary Alveolar Proteinosis NGS Panel that also includes the following genes: FOXF1 SLC7A7 CSF2RA CSF2RB NKX2-1 ABCA3 SFTPC SFTPB

More info about this panel

Idiopathic Pulmonary Fibrosis NGS Panel Panel

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. Idiopathic Pulmonary Fibrosis NGS Panel that also includes the following genes: HPS1 HPS4 AP3B1 TINF2 DKC1 TERC TERT NKX2-1 ABCA3 SFTPC

More info about this panel

Neonatal Respiratory Distress NGS Panel Panel

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. Neonatal Respiratory Distress NGS Panel that also includes the following genes: FOXF1 NKX2-1 ABCA3 SFTPC SFTPB

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Childhood Interstitial Lung Disease Panel Panel

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. Childhood Interstitial Lung Disease Panel that also includes the following genes: NKX2-1 ABCA3 SFTPC

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Pulmonary Arterial Hypertension Panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. Pulmonary Arterial Hypertension Panel that also includes the following genes: SMAD4 ENG ACVRL1 GDF2 KCNK3 CAV1 SMAD9 KCNA5 ABCA3 BMPR2

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Basic Fibrosis Panel (12 Genes) Panel

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. Basic Fibrosis Panel (12 Genes) that also includes the following genes: TERC ELMOD2 TERT SFTPD CSF2RA MUC5B NKX2-1 ABCA3 SFTPC SFTPB

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PulmoGene Panel (64 Genes) Panel

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. PulmoGene Panel (64 Genes) that also includes the following genes: FBLN5 RET ELN DTNBP1 RPGR FBN1 HPS1 BLOC1S3 HPS6 HPS5

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Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: DTNBP1 HPS1 BLOC1S3 HPS6 HPS5 HPS4 HPS3 AP3B1 BLOC1S6 TERC

More info about this panel

Surfactant Dysfunction Panel Panel

By Ambry Genetics in United States. Surfactant Dysfunction Panel that also includes the following genes: ABCA3 SFTPC SFTPB

More info about this panel

ABCA3. Complete sequencing Panel

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

This panel specifically test the ABCA3 gene.

More info about this panel

Neonatal Respiratory Distress Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

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Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

More info about this panel

Neonatal Respiratory Distress Seq Analysis Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Seq Analysis that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Pulmonary Surfactant Metabolism Dysfunction (sequence analysis of ABCA3 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA3 gene.

More info about this panel

Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes) Panel

By CGC Genetics in Portugal. Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes) that also includes the following genes: SFTPD CSF2RA CSF2RB ABCA3 SFTPC SFTPB SFTPA1

More info about this panel

Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA3 gene.

More info about this panel

Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA3 gene.

More info about this panel

Surfactant Deficiency via the ABCA3 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ABCA3 gene.

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Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection that also includes the following genes: TERC ELMOD2 TERT SFTPD CSF2RB NKX2-1 ABCA3 SFTPC SFTPB SFTPA2

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Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SMPD1 HPS1 HPS4 STAT3 CFTR TINF2 TSC2 TSC1 FLCN SLC7A7

More info about this panel

Surfactant metabolism dysfunction panel Panel

By Centogene AG - the Rare Disease Company in Germany. Surfactant metabolism dysfunction panel that also includes the following genes: SFTPD CSF2RA CSF2RB ABCA3 SFTPC SFTPB SFTPA1

More info about this panel

CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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Surfactant metabolism dysfunction type 3 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA3 gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

By Centogene AG - the Rare Disease Company in Germany. Comprehensive pulmonary disease panel that also includes the following genes: FBLN5 RET ELN DTNBP1 FBN1 HPS1 BLOC1S3 HPS6 HPS5 HPS4

More info about this panel

Single gene testing ABCA3 Panel

By CeGaT GmbH in Germany.

This panel specifically test the ABCA3 gene.

More info about this panel

Surfactant metabolism dysfunction, pulmonary, 3:ABCA3 gene sequence analysis Panel

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

This panel specifically test the ABCA3 gene.

More info about this panel

Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency that also includes the following genes: TERC TERT SFTPD CSF2RA CSF2RB MUC5B ABCA3 SFTPC SFTPB SFTPA2

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: FBLN5 RET ELN DTNBP1 HPS1 BLOC1S3 HPS6 HPS5 HPS4 HPS3

More info about this panel

Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel that also includes the following genes: DTNBP1 HPS1 BLOC1S3 HPS6 HPS4 HPS3 AP3B1 BLOC1S6 ELMOD2 TERT

More info about this panel

Interstitial Lung Disease: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Interstitial Lung Disease: Sequencing Panel that also includes the following genes: TERT CSF2RA CSF2RB ABCA3 SFTPC SFTPB NKX1-1

More info about this panel

Interstitial Lung Disease: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Interstitial Lung Disease: Deletion/Duplication Panel that also includes the following genes: TERT CSF2RA ABCA3 SFTPC SFTPB

More info about this panel

Lung Disorders NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Lung Disorders NGS Panel that also includes the following genes: FBLN5 RET ELN DTNBP1 HPS1 BLOC1S3 HPS6 HPS5 HPS4 HPS3

More info about this panel

Surfactant NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Surfactant NGS Panel that also includes the following genes: ABCA3 SFTPC SFTPB

More info about this panel

ABCA3 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA3 gene.

More info about this panel

Comprehensive Hematology Panel Panel

By Blueprint Genetics in Finland. Comprehensive Hematology Panel that also includes the following genes: BRCA1 BRCA2 F2 F5 HFE EPCAM MSH2 PMS2 MSH6 MLH1

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Hermansky-Pudlak Syndrome Panel Panel

By Blueprint Genetics in Finland. Hermansky-Pudlak Syndrome Panel that also includes the following genes: TYRP1 OCA2 SLC45A2 TYR GPR143 DTNBP1 HPS1 BLOC1S3 HPS6 HPS5

More info about this panel

Comprehensive Pulmonology Panel Panel

By Blueprint Genetics in Finland. Comprehensive Pulmonology Panel that also includes the following genes: FBLN5 RET ELN SMPD1 MECP2 HPS1 HPS4 CCDC39 CHAT STAT3

More info about this panel

Interstitial Lung Disease Panel Panel

By Blueprint Genetics in Finland. Interstitial Lung Disease Panel that also includes the following genes: SMPD1 HPS1 HPS4 STAT3 TINF2 TSC2 TSC1 SLC7A7 RTEL1 NF1

More info about this panel

Neonatal Respiratory Distress - Surfactant Dysfunction Panel Panel

By Blueprint Genetics in Finland. Neonatal Respiratory Distress - Surfactant Dysfunction Panel that also includes the following genes: FOXF1 NKX2-1 ABCA3 SFTPC SFTPB

More info about this panel

Surfactant metabolism dysfunction, pulmonary, type 3 Panel

By Bioarray in Spain.

This panel specifically test the ABCA3 gene.

More info about this panel

INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION) Panel

By Laboratorio de Genetica Clinica SL in Spain. INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION) that also includes the following genes: ABCA3 SFTPC SFTPB

More info about this panel

Pulmonary Surfactant Metabolism Dysfunction Type 3 , Sequencing ABCA3 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCA3 gene.

More info about this panel

Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes Panel

By Reference Laboratory Genetics in Spain. Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TERC TERT CSF2RA CSF2RB MUC5B ABCA3 SFTPC SFTPB SFTPA2

More info about this panel

Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes Panel

By Reference Laboratory Genetics in Spain. Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: CSF2RA CSF2RB NKX2-1 ABCA3 SFTPC SFTPB

More info about this panel


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