Rare Infectious Disease News
Advertisement
Disease Profile
Alveolar capillary dysplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Infancy
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Congenital alveolar capillary dysplasia; Pulmonary hypertension, familial persistent of the newborn; Familial persistent pulmonary hypertension of the newborn;
Categories
Congenital and Genetic Diseases; Lung Diseases
Summary
Orpha Number: 210122
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
30%-79% of people have these symptoms | ||
Hypoplastic left heart |
Underdeveloped left heart
|
0004383 |
Intestinal malrotation | 0002566 | |
Patent ductus arteriosus | 0001643 | |
5%-29% of people have these symptoms | ||
Abnormal vertebral morphology | 0003468 | |
Absent gallbladder | 0011467 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Anal atresia |
Absent anus
|
0002023 |
Annular pancreas | 0001734 | |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Asplenia |
Absent spleen
|
0001746 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Atrioventricular canal defect | 0006695 | |
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Duodenal stenosis | 0100867 | |
Hydronephrosis | 0000126 | |
Pulmonary valve atresia | 0010882 | |
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
Tetralogy of Fallot | 0001636 | |
Tracheoesophageal fistula | 0002575 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Volvulus | 0002580 | |
1%-4% of people have these symptoms | ||
Arnold-Chiari malformation | 0002308 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Butterfly vertebrae | 0003316 | |
0410030 | ||
Cleft roof of mouth
|
0000175 | |
0030889 | ||
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
Dilatation of the bladder | 0010955 | |
Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Global |
0001263 | |
Hydroureter | 0000072 | |
Interrupted aortic arch | 0011611 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Meckel diverticulum | 0002245 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Misalignment of the pulmonary veins | 0033186 | |
Neonatal death |
Neonatal lethal
|
0003811 |
Omphalocele | 0001539 | |
Partial anomalous pulmonary venous return | 0010773 | |
Posterior rib fusion | 0000913 | |
Pulmonary artery dilatation | 0004927 | |
Pulmonary lymphangiectasia | 0006521 | |
Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal lung lobation | 0002101 | |
0000006 | ||
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Pulmonary insufficiency | 0010444 | |
Right-to-left shunt | 0001694 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Nitric oxide(Brand name: INOmax®) Manufactured by INO Therapeutics, Inc.
FDA-approved indication: In conjunction with ventilatory support and other appropriate agents, in the treatment of term and near-term (>34 weeks) neonates with hypoxic respiratory failure associated with clinical or echocardiographic evidence of pulmonaryhypertension , where it i
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Alveolar Capillary Dysplasia Association (ACDA)
c/o Eliza Rista, President
12115 Henderson Hill Rd.
Huntersville, NC 28078
E-mail: [email protected]
Website: https://acdassociation.org/ -
Children's Interstitial Lung Disease Foundation
6539 Harrison Ave #1045
Cincinnati, OH 45247
E-mail: [email protected]
Website: https://child-foundation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Alveolar capillary dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alveolar capillary dysplasia. Click on the link to view a sample search on this topic.