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,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCA3 gene

Symptoms // Phenotype % Cases
Respiratory distress Very Common - Between 80% and 100% cases
Tachypnea Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Respiratory failure Common - Between 50% and 80% cases
Abnormal lung morphology Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ABCA3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Neonatal respiratory distress
  • Not very common - Between 30% and 50% cases

  • Neoplasm
  • Crackles
  • Alveolar cell carcinoma
  • Hypocapnia
  • Reticular pattern on pulmonary HRCT
  • Honeycomb lung
  • Ground-glass opacification on pulmonary HRCT

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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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.


IDIOPATHIC PULMONARY FIBROSIS


Alternate names

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

Description

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


More info about IDIOPATHIC PULMONARY FIBROSIS

SOURCES: OMIM ORPHANET

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME


Alternate names

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME Is also known as infant ards, rds of prematurity, hyaline membrane disease, neonatal respiratory distress syndrome, hyaline membrane disease, formerly, infant respiratory distress syndrome

Description

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

Most common symptoms of INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

  • Respiratory distress
  • Edema
  • Premature birth
  • Tachypnea
  • Neonatal respiratory distress


More info about INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

SOURCES: ORPHANET OMIM

INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY


Alternate names

INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY 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 INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Patent ductus arteriosus
  • Respiratory failure


More info about INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for ABCA3 gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Arterial Hypertension Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4

More info about this panel

Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3

More info about this panel

Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel Panel

United States.

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

More info about this panel

Diffuse Lung Disease NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Diffuse Lung Disease NGS Panel that also includes the following genes: SFTPA2 SFTPB SFTPC SLC7A7 TERC TERT TINF2 NKX2-1 HPS4 CSF2RA

More info about this panel

Pulmonary Alveolar Proteinosis NGS Panel Panel

United States.

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

More info about this panel

Idiopathic Pulmonary Fibrosis NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Idiopathic Pulmonary Fibrosis NGS Panel that also includes the following genes: SFTPA2 SFTPC TERC TERT TINF2 NKX2-1 HPS4 DKC1 ABCA3 HPS1

More info about this panel

Neonatal Respiratory Distress NGS Panel Panel

United States.

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

More info about this panel

Childhood Interstitial Lung Disease Panel Panel

United States.

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

More info about this panel

Pulmonary Arterial Hypertension Panel Panel

United States.

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

More info about this panel

Basic Fibrosis Panel (12 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Basic Fibrosis Panel (12 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 CSF2RA ELMOD2

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 HPS3 HPS4

More info about this panel

Surfactant Dysfunction Panel Panel

United States.

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

More info about this panel

ABCA3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCA3 gene.

More info about this panel

Neonatal Respiratory Distress Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3

More info about this panel

Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3

More info about this panel

Neonatal Respiratory Distress Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq Analysis that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ABCA3 gene.

More info about this panel

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

Portugal.

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

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ABCA3 gene.

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ABCA3 gene.

More info about this panel

Surfactant Deficiency via ABCA3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCA3 gene.

More info about this panel

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

United States.

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

More info about this panel

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel

Surfactant metabolism dysfunction panel Panel

Germany.

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

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Surfactant metabolism dysfunction type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCA3 gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

Single gene testing ABCA3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ABCA3 gene.

More info about this panel

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

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ABCA3 gene.

More info about this panel

Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency that also includes the following genes: SFTPA2 SFTPB SFTPC SFTPD TERC TERT CSF2RA CSF2RB DMBT1 ABCA3

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel that also includes the following genes: SFTPA1 SFTPB SFTPC SFTPD TERT HPS3 HPS4 DTNBP1 HPS6 BLOC1S3

More info about this panel

Interstitial Lung Disease: Sequencing Panel Panel

United States.

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

More info about this panel

Interstitial Lung Disease: Deletion/Duplication Panel Panel

United States.

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

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

Surfactant NGS Panel Panel

United States.

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

More info about this panel

ABCA3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCA3 gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Hermansky-Pudlak Syndrome Panel Panel

Finland.

By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Interstitial Lung Disease Panel Panel

Finland.

By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT

More info about this panel

Neonatal Respiratory Distress - Surfactant Dysfunction Panel Panel

Finland.

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

More info about this panel

Surfactant metabolism dysfunction, pulmonary, type 3 Panel

Spain.

By Bioarray

This panel specifically test the ABCA3 gene.

More info about this panel

INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION) Panel

Spain.

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

More info about this panel

INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION) NGS PANEL that also includes the following genes: SFTPA1 SFTPB SFTPC SFTPD CSF2RA CSF2RB ABCA3

More info about this panel

Pulmonary Surfactant Metabolism Dysfunction Type 3 , Sequencing ABCA3 Gene Panel

Spain.

By Reference Laboratory Genetics

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

Spain.

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

More info about this panel

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

Spain.

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

More info about this panel


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