SFTPA2 gene related symptoms and diseases

All the information presented here about the SFTPA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SFTPA2 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 SFTPA2 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 SFTPA2 gene

Here you will find a list of rare diseases related to the SFTPA2. 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


Potential gene panels for SFTPA2 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.

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.

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.

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 Syndrome via the SFTPA2 Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SFTPA2 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.

Pulmonary fibrosis, idiopathic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SFTPA2 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.

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.

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.

SFTPA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SFTPA2 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.

IDIOPATHIC PULMONARY FIBROSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL IDIOPATHIC PULMONARY FIBROSIS that also includes the following genes: SFTPA2 SFTPC TERT

More info about this panel
Spain.

PULMONARY FIBROSIS, IDIOPATHIC Panel

Spain.

By Laboratorio de Genetica Clinica SL PULMONARY FIBROSIS, IDIOPATHIC that also includes the following genes: SFTPA2 SFTPC TERC TERT RTEL1 MUC5B PARN

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.

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