CSF2RA gene related symptoms and diseases

All the information presented here about the CSF2RA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CSF2RA gene

Symptoms // Phenotype % Cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CSF2RA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Respiratory failure
  • Tachycardia
  • Abnormal lung morphology
  • Tachypnea
  • Restrictive ventilatory defect
  • Hypoxemia
  • Foam cells
  • Alveolar proteinosis

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CSF2RA gene

Here you will find a list of rare diseases related to the CSF2RA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY PULMONARY ALVEOLAR PROTEINOSIS

Alternate names

HEREDITARY PULMONARY ALVEOLAR PROTEINOSIS Is also known as congenital pap, congenital pulmonary alveolar proteinosis

Description

Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.


More info about HEREDITARY PULMONARY ALVEOLAR PROTEINOSIS

SOURCES: ORPHANET

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Alternate names

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4, csf2ra deficiency, pap due to csf2ra deficiency

Description

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

Most common symptoms of SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

SOURCES: MESH OMIM


Potential gene panels for CSF2RA 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.

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.

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.

CSF2RA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CSF2RA 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.

Surfactant metabolism dysfunction type 4 (sequence analysis of CSF2RA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CSF2RA 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 type 4 (deletions/duplications analysis of CSF2RA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CSF2RA gene.

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.

Surfactant metabolism dysfunction type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CSF2RA 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 CSF2RA Panel

Germany.

By CeGaT GmbH

This panel specifically test the CSF2RA gene.

More info about this panel
Germany.

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel
Germany.

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel
Germany.

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel
United States.

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel
United States.

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.

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

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.

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

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.

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel
Finland.

Congenital pulmonary alveolar proteinosis Panel

Spain.

By Bioarray

This panel specifically test the CSF2RA gene.

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 4, Sequencing CSF2RA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CSF2RA 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.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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