Disease Profile

Alveolar capillary dysplasia

Prevalence ?
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 210122

Definition
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

Visit the Orphanet disease page for more resources.

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
Cleft lip
0410030
Cleft palate
Cleft roof of mouth
0000175
Congenital shortened small intestine
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 developmental delay
0001263
Hydroureter
0000072
Interrupted aortic arch
0011611
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Meckel diverticulum
0002245
Micrognathia
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
Autosomal dominant inheritance
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 pulmonary hypertension, 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

    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.