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 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 13 free, full-text research articles on human participants. First 3 results:

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
 

Author(s): Przemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, Chris T Towe, Frances V White, R Mark Grady, Pirooz Eghtesady, F Sessions Cole, Gail Deutsch, Partha Sen, PaweĊ‚ Stankiewicz

Journal: Am. J. Med. Genet. A. 2014 Aug;164A(8):2013-9.

 

Position effects due to disruption of distant cis-regulatory regions have been reported for over 40 human gene loci; however, the underlying mechanisms of long-range gene regulation remain largely unknown. We report on two patients with alveolar capillary dysplasia with misalignment ...

Last Updated: 21 Jul 2014

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Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.
 

Author(s): Partha Sen, Avinash V Dharmadhikari, Tadeusz Majewski, Mahmoud A Mohammad, Tanya V Kalin, Joanna Zabielska, Xiaomeng Ren, Molly Bray, Hannah M Brown, Stephen Welty, Sundararajah Thevananther, Claire Langston, Przemyslaw Szafranski, Monica J Justice, Vladimir V Kalinichenko, Anna Gambin, John Belmont, Pawel Stankiewicz

Journal:

 

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) is a developmental disorder of the lungs, primarily affecting their vasculature. FOXF1 haploinsufficiency due to heterozygous genomic deletions and point mutations have been reported in most patients with ACDMPV. ...

Last Updated: 11 Apr 2014

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Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia.
 

Author(s): Csaba Galambos, Sunder Sims-Lucas, Steven H Abman

Journal: J. Pediatr.. 2014 Jan;164(1):192-5.

 

Alveolar capillary dysplasia (ACD) with misalignment of pulmonary veins (MPV) is a lethal neonatal lung disease. Death from ACD/MPV is caused by hypoxia, but the role of the MPV is unknown. Using 3-dimensional reconstruction of ACD/MPV lung tissue, we report that the veins in MPV ...

Last Updated: 23 Dec 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.