SFTPA1 gene related symptoms and diseases
All the information presented here about the SFTPA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SFTPA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Clubbing of fingers | Very Common - Between 80% and 100% cases |
| Pulmonary fibrosis | Very Common - Between 80% and 100% cases |
| Increased antibody level in blood | Very Common - Between 80% and 100% cases |
| Interstitial pulmonary abnormality | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SFTPA1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Exertional dyspnea
- Polycythemia
- Pulmonary infiltrates
- Right ventricular failure
- Scaling skin
- Pulmonary insufficiency
- Crackles
- Alveolar cell carcinoma
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SFTPA1 gene
Here you will find a list of rare diseases related to the SFTPA1. 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
Search interest in SFTPA1
Potential gene panels for SFTPA1 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.
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.
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.
Pulmonary fibrosis, idiopathic (sequence analysis of SFTPA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SFTPA1 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.
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.
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.
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.
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.
SFTPA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SFTPA1 gene.
More info about this panel United States.
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.
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.
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