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.
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
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
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
Search interest in ABCA3
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing ABCA3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ABCA3 gene.
More info about this panel Germany.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
ABCA3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCA3 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Surfactant metabolism dysfunction, pulmonary, type 3 Panel
Spain.
By Bioarray
This panel specifically test the ABCA3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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