Alveolar Capillary Dysplasia

Common Name(s)

Alveolar Capillary Dysplasia

Alveolar Capillary Dysplasia (ACD) is a very rare disease that exists at birth. It causes the respiratory (breathing) tubes within th lungs to form incorrectly. ACD is a cause of high blood pressure within the lungs in infants. Unfortunately there is a high level of early mortality for individuals with ACD, typically before birth (fetal demise or stillbirth), and one of the longest living survivors lived until the age of two months.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alveolar Capillary Dysplasia" for support, advocacy or research.

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Alveolar Capillary Dysplasia Association

The purpose of the ACDA is to gather and share information about ACD and raise funds for ACD research.

Last Updated: 30 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alveolar Capillary Dysplasia" for support, advocacy or research.

Logo
Alveolar Capillary Dysplasia Association

The purpose of the ACDA is to gather and share information about ACD and raise funds for ACD research.

http://www.acd-association.com/

Last Updated: 30 Apr 2014

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General Support Organizations

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General Resources

Website for ACDA

Website for the ACD Association; has information on research, medical journals, family stories, FAQs, newsletters and fundraisers.

Updated 22 Oct 2012

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ACDA Website

Member website with information on research, fundraising, medical journals, FAQs, guestbook and donations

Updated 22 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alveolar Capillary Dysplasia" returned 20 free, full-text research articles on human participants. First 3 results:

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
 

Author(s): Youngeun Ma, Mi Ae Jang, Hye Soo Yoo, So Yoon Ahn, Se In Sung, Yun Sil Chang, Chang Seok Ki, Won Soon Park

Journal: Yonsei Med. J.. 2017 May;58(3):672-675.

 

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a ...

Last Updated: 23 Mar 2017

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
 

Author(s): Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, Urvashi Surti, Rosanna G Abellar, David A Bateman, Ashley L Wilson, Melinda H Markham, Jill Slamon, Fernando Santos-Simarro, María Palomares, Julián Nevado, Pablo Lapunzina, Brian Hon-Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott A Anderson, David R Kelly, Joseph Shieh, Taryn C Rosenthal, Kristin Scheible, Laurie Steiner, M Anwar Iqbal, Margaret L McKinnon, Sara Jane Hamilton, Kamilla Schlade-Bartusiak, Dawn English, Glenda Hendson, Elizabeth R Roeder, Thomas S DeNapoli, Rebecca Okashah Littlejohn, Daynna J Wolff, Carol L Wagner, Alison Yeung, David Francis, Elizabeth K Fiorino, Morris Edelman, Joyce Fox, Denise A Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S Lay, Jennifer L Kussmann, Jasneek Chawla, Diane J Payton, Gael E Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw-Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A Bacino, Claire Langston, James R Lupski, Partha Sen, Edwina Popek, Paweł Stankiewicz

Journal: Hum. Genet.. 2016 May;135(5):569-86.

 

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding ...

Last Updated: 19 Apr 2016

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Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
 

Author(s): Stephanie L Prothro, Erin Plosa, Melinda Markham, Przemyslaw Szafranski, Pawel Stankiewicz, Stacy A S Killen

Journal: J. Pediatr.. 2016 Mar;170():317-8.

 

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, lethal cause of neonatal respiratory failure and persistent pulmonary hypertension. We present a presumptive prenatal diagnosis of ACDMPV based on chorionic villus sampling of a FOXF1 mutation in ...

Last Updated: 29 Feb 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alveolar Capillary Dysplasia" returned 2 free, full-text review articles on human participants. First 3 results:

Assessment of inhibited alveolar-capillary membrane structural development and function in bronchopulmonary dysplasia.
 

Author(s): Shawn K Ahlfeld, Simon J Conway

Journal: Birth Defects Res. Part A Clin. Mol. Teratol.. 2014 Mar;100(3):168-79.

 

Bronchopulmonary dysplasia (BPD) is a chronic lung disease of extreme prematurity and is defined clinically by dependence on supplemental oxygen due to impaired gas exchange. Optimal gas exchange is dependent on the development of a sufficient surface area for diffusion. In the mammalian ...

Last Updated: 24 Mar 2014

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Alveolar capillary dysplasia.
 

Author(s): Naomi B Bishop, Pawel Stankiewicz, Robin H Steinhorn

Journal: Am. J. Respir. Crit. Care Med.. 2011 Jul;184(2):172-9.

 

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, ...

Last Updated: 18 Jul 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.