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.

Jump to Topic
Advocacy and Support Organizations Health Questions Recommended Apps General Resources Scientific Literature Symptoms, Diagnosis, and Treatment Clinical Trial Information
 

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.

Last Updated: 30 Apr 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

Recommended Apps

Privately answer questions about your health. Let resources, you select, come to you

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Learn More
Relief is when you and the right researcher find each other

Finding the right clinical trial for Alveolar Capillary Dysplasia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Learn More
 
 
Top

General Resources

Website for ACDA

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

Uploaded By: Alveolar Capillary Dysplasia Association

Updated 22 Oct 2012

Go To URL
ACDA Website

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

Uploaded By: Alveolar Capillary Dysplasia Association

Updated 22 Oct 2012

Go To URL
 
 
Top

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

Go To URL
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

Go To URL
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

Go To URL

To view other free, full-text articles on human participants, please click on the link below.

PubMed Article Results at NCBI: 20 article(s)

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

Go To URL
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

Go To URL

To view other free, full-text review articles on human participants, please click on the link below.

PubMed Review Results at NCBI: 2 review(s)

 
 
Top

Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins
https://ghr.nlm.nih.gov/gene/FOXF1
https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis
https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome
https://ghr.nlm.nih.gov/condition/megalencephaly-capillary-malformation-syndrome
https://ghr.nlm.nih.gov/gene/SLC34A2
https://ghr.nlm.nih.gov/condition/perry-syndrome
https://ghr.nlm.nih.gov/gene/STAMBP
https://ghr.nlm.nih.gov/gene/GPIHBP1
https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome
https://ghr.nlm.nih.gov/gene/FOXO1
https://ghr.nlm.nih.gov/gene/CSF2RB
https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome
https://ghr.nlm.nih.gov/gene/PAX7
https://ghr.nlm.nih.gov/gene/TFE3
https://ghr.nlm.nih.gov/gene/ASPSCR1
https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia
https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia
https://ghr.nlm.nih.gov/condition/greenberg-dysplasia
https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia
Full Results at Genetics Home Reference: 244 matches

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Alveolar Capillary Dysplasia" (open studies are recruiting volunteers) and 0 "Alveolar Capillary Dysplasia" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
TrialsFinder Branding Graphics
Relief is when you and the right researcher find each other
Finding the right clinical trial for Alveolar Capillary Dysplasia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More