MUC5B gene related symptoms and diseases

All the information presented here about the MUC5B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MUC5B gene

Symptoms // Phenotype % Cases
Bronchiectasis Very Common - Between 80% and 100% cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Exertional dyspnea Very Common - Between 80% and 100% cases
Respiratory failure Very Common - Between 80% and 100% cases
Dyspnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MUC5B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Clubbing
  • Cough
  • Crackles
  • Not very common - Between 30% and 50% cases

  • Neoplasm
  • Hypocapnia
  • Reticular pattern on pulmonary HRCT
  • Honeycomb lung
  • Ground-glass opacification on pulmonary HRCT

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MUC5B gene

Here you will find a list of rare diseases related to the MUC5B. 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

DIFFUSE PANBRONCHIOLITIS


Alternate names

DIFFUSE PANBRONCHIOLITIS Is also known as pblt, dpb

Description

Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis

Most common symptoms of DIFFUSE PANBRONCHIOLITIS

  • Respiratory insufficiency
  • Dilatation
  • Respiratory failure
  • Weight loss
  • Dyspnea


More info about DIFFUSE PANBRONCHIOLITIS

SOURCES: MESH OMIM ORPHANET


Potential gene panels for MUC5B 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

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

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

Pulmonary fibrosis, idiopathic (sequence analysis of MUC5B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MUC5B 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

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

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

MUC5B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MUC5B gene.

More info about this panel

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

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


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