Bronchopulmonary Dysplasia

Description

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.

Clinical Features

Top most frequent phenotypes and symptoms related to Bronchopulmonary Dysplasia

  • Respiratory distress
  • Dyspnea
  • Cough
  • Small for gestational age
  • Sleep disturbance
  • Premature birth
  • Abnormal lung morphology
  • Exercise intolerance
  • Emphysema
  • Wheezing

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BRONCHOPULMONARY DYSPLASIA have a estimated prevalence of 13 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Bronchopulmonary Dysplasia extracted from public data.

Bronchopulmonary Dysplasia Experts map



Current Researchs and researchers

  • PARIS — Pr Christophe DELACOURT

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — CHU Paris - Hôpital Necker-Enfants Malades
      — Service de pneumo-allergologie, CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      BPDSPOCK2: Role of SPOCK2 in susceptibility of premature infants to bronchopulmonary dysplasia


  • PRAGUE — Dr Peter VITIELLO

    Investigator of research project

    • Institution/s:
      — Faculty of Medicine and University Hospital Motol
      — Sanford Research/University of South Dakota
    • Research area/topic::

      Redox signaling in bronchopulmonary dysplasia


  • SOUTH DAKOTA — Dr Peter VITIELLO

    Investigator of research project

    • Institution/s:
      — Faculty of Medicine and University Hospital Motol
      — Sanford Research/University of South Dakota
    • Research area/topic::

      Redox signaling in bronchopulmonary dysplasia



Mendelian

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Bronchopulmonary Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHST9.

By Fulgent Genetics Fulgent Genetics (United States).

CHST9
Specificity
100 %
Genes
7 %
FHIT.

By Fulgent Genetics Fulgent Genetics (United States).

FHIT
Specificity
100 %
Genes
7 %
FoundationOne® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
7 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
7 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
7 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
32 %
PLXDC2.

By Fulgent Genetics Fulgent Genetics (United States).

PLXDC2
Specificity
100 %
Genes
7 %
HIVEP3.

By Fulgent Genetics Fulgent Genetics (United States).

HIVEP3
Specificity
100 %
Genes
7 %

We have 101 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 HYPERTHYROIDISM, NONAUTOIMMUNE HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1

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