Panbronchiolitis, Diffuse

Description

Diffuse panbronchiolitis (DPB) is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles. 'Diffuse' refers to the distribution of the lesions throughout both lungs, and 'pan-' refers to the involvement of inflammation in all layers of the respiratory bronchioles. Onset of the disorder occurs in the second to fifth decade of life, and is clinically manifest by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis. If untreated, the disorder progresses to bronchiectasis, respiratory failure, and death (summary by Poletti et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Panbronchiolitis, Diffuse

  • Dilatation
  • Respiratory failure
  • Cough
  • Sepsis
  • Bronchiectasis
  • Asthma
  • Sinusitis
  • Emphysema
  • Bronchitis
  • Chronic sinusitis
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Panbronchiolitis, Diffuse Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DPCR1.

By Fulgent Genetics Fulgent Genetics in United States.

MUCL3
Specificity
100 %
Genes
50 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Basic Fibrosis Panel (12 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1
Specificity
9 %
Genes
50 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Pulmonary fibrosis, idiopathic (sequence analysis of MUC5B gene).

By CGC Genetics in Portugal.

MUC5B
Specificity
100 %
Genes
50 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TERC, TERT, SFTPD, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2, DMBT1, FOXA2, FOXA1
Specificity
8 %
Genes
50 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS4, HPS3, AP3B1, BLOC1S6, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA1
Specificity
6 %
Genes
50 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
MUC5B.

By Fulgent Genetics Fulgent Genetics in United States.

MUC5B
Specificity
100 %
Genes
50 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

TERC, TERT, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2
Specificity
12 %
Genes
50 %

Alternate names

Panbronchiolitis, Diffuse Is also known as dpb, pblt;.


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