ACD
MCID: ALV006
MIFTS: 50

Alveolar Capillary Dysplasia (ACD) malady

Respiratory diseases, Cardiovascular diseases, Genetic diseases categories

Summaries for Alveolar Capillary Dysplasia

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.

MalaCards: Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary veins, is related to hypertension and respiratory failure, and has symptoms including ventricular septal defect/interventricular communication, intestinal/gut/bowel malrotation and asplenia/polysplenia/spleen lobulation/accessory spleen. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (forkhead box F1). The drugs tolazoline and tolazoline hydrochloride and the compounds cacl2 and isoleucine have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and pancreas, and related mouse phenotypes are cardiovascular system and embryogenesis.

Wikipedia:63 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital... more...

Description from OMIM:46 265380

Aliases & Classifications for Alveolar Capillary Dysplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Respiratory diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
alveolar capillary dysplasia with misalignment of pulmonary veins:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alveolar capillary dysplasia 42 21
alveolar capillary dysplasia with misalignment of pulmonary veins 42 20 22 21 46 48
congenital alveolar capillary dysplasia 42 21 48
familial persistent pulmonary hypertension of the newborn 42 21
alveolar capillary dysplasia with misalignment of pulmonary vessels 48
alveolar capillary dysplasia with pulmonary venous misalignment 42
pulmonary hypertension, familial persistent of the newborn 42
misalignment of the pulmonary vessels 21
acd/mpv 21
acdmpv 21
acd 21


External Ids:

OMIM46 265380

Related Diseases for Alveolar Capillary Dysplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Alveolar Capillary Dysplasia:



Diseases related to alveolar capillary dysplasia

Clinical Features for Alveolar Capillary Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

265380

Clinical synopsis from OMIM:

265380

Symptoms:

48 (show all 23)
  • ventricular septal defect/interventricular communication
  • intestinal/gut/bowel malrotation
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • atrioventricular canal
  • hypoplastic left heart/ventricle
  • single umbilical artery
  • duodenal atresia/stenosis/megaduodenum
  • annular pancreas
  • pulmonary valve atresia/stenosis/narrowing
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • tetralogy of fallot/trilogy of fallot
  • abnormal vertebral size/shape
  • gallbladder/common bile duct anomalies
  • patent ductus arteriosus
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • pulmonary hypertension
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • atrial septal defect/interauricular communication
  • stillbirth/neonatal death
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Alveolar Capillary Dysplasia

Drug clinical trials:

Search ClinicalTrials for Alveolar Capillary Dysplasia

Search NIH Clinical Center for Alveolar Capillary Dysplasia

Search CenterWatch for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Alveolar Capillary Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Alveolar Capillary Dysplasia:

id Genetic test Affiliating Genes
1 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins20 22 FOXF1

Anatomical Context for Alveolar Capillary Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

32
Lung, Spleen, Pancreas, Heart

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.2FOXF1, KIT
2MP:00053808.3FOXF1, FOXC2, F5, KIT
3MP:00053888.2SFTPB, FOXF1, FOXC2, KIT
4MP:00053767.4FOXC2, KIT, F5, STRA6, SFTPB
5MP:00107687.3KIT, F5, SFTPB, FOXC2, FOXF1

Publications for Alveolar Capillary Dysplasia

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Genetic Variations for Alveolar Capillary Dysplasia

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Expression for genes affiliated with Alveolar Capillary Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alveolar Capillary Dysplasia

Search GEO for disease gene expression data for Alveolar Capillary Dysplasia.

Pathways for genes affiliated with Alveolar Capillary Dysplasia

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Compounds for genes affiliated with Alveolar Capillary Dysplasia

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cacl2449.5F5, SFTPB
2isoleucine449.1KIT, SFTPB
3p002449.0KIT, F5
4gold448.7KIT, SFTPB
5leucine448.6KIT, F5, SFTPB
6progesterone44 59 28 11 2412.5SFTPB, F5, KIT
7vegf448.5KIT, F5, SFTPB

GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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16Gene Ontology
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Biological processes related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1ductus arteriosus closureGO:0970709.8FOXF1, STRA6
2lung vasculature developmentGO:0604269.7FOXF1, STRA6
3artery morphogenesisGO:0488449.6FOXC2, STRA6
4lung alveolus developmentGO:0482869.6FOXF1, STRA6
5blood vessel developmentGO:0015689.5FOXF1, STRA6
6lung developmentGO:0303249.5STRA6, FOXF1
7somitogenesisGO:0017569.5FOXC2, FOXF1
8digestive tract developmentGO:0485659.4FOXF1, KIT
9regulation of sequence-specific DNA binding transcription factor activityGO:0510909.3FOXC2, FOXF1
10heart developmentGO:0075079.3FOXF1, FOXC2, STRA6

Molecular functions related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.6FOXC2, FOXF1
2DNA binding, bendingGO:0083019.5FOXC2, FOXF1
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.3FOXC2, FOXF1

Products for genes affiliated with Alveolar Capillary Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alveolar Capillary Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet