MCID: ALV006
MIFTS: 49

Alveolar Capillary Dysplasia malady

Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases categories

Aliases & Classifications for Alveolar Capillary Dysplasia

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Alveolar Capillary Dysplasia, Aliases & Descriptions:

Name: Alveolar Capillary Dysplasia 41
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 41 47
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 41 47
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 41 60
Congenital Alveolar Capillary Dysplasia 41 47
 
Acdmpv 41 47
Pulmonary Hypertension, Familial Persistent of the Newborn 41
Familial Persistent Pulmonary Hypertension of the Newborn 41
Persistent Fetal Circulation Syndrome 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
alveolar capillary dysplasia with misalignment of pulmonary vessels:
Prevalence: 1-9/100000 (Canada),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


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Summaries for Alveolar Capillary Dysplasia

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

MalaCards based summary: Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary vessels, is related to microphthalmia and alveolar capillary dysplasia with misalignment of pulmonary veins, and has symptoms including pulmonary hypertension, respiratory insufficiency and patent ductus arteriosus. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (forkhead box F1). The drugs tolazoline and tolazoline hydrochloride and the compounds cacl2 and copper have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and heart, and related mouse phenotypes are pigmentation and liver/biliary system.

Related Diseases for Alveolar Capillary Dysplasia

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Graphical network of the top 20 diseases related to Alveolar Capillary Dysplasia:



Diseases related to alveolar capillary dysplasia

Symptoms for Alveolar Capillary Dysplasia

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Symptoms:

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

HPO human phenotypes related to Alveolar Capillary Dysplasia:

(show all 22)
id Description Frequency HPO Source Accession
1 pulmonary hypertension hallmark (90%) HP:0002092
2 respiratory insufficiency hallmark (90%) HP:0002093
3 patent ductus arteriosus typical (50%) HP:0001643
4 intestinal malrotation typical (50%) HP:0002566
5 hypoplastic left heart typical (50%) HP:0004383
6 single umbilical artery occasional (7.5%) HP:0001195
7 ventricular septal defect occasional (7.5%) HP:0001629
8 defect in the atrial septum occasional (7.5%) HP:0001631
9 tetralogy of fallot occasional (7.5%) HP:0001636
10 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
11 abnormality of the aortic valve occasional (7.5%) HP:0001646
12 complete atrioventricular canal defect occasional (7.5%) HP:0001674
13 abnormality of the aorta occasional (7.5%) HP:0001679
14 annular pancreas occasional (7.5%) HP:0001734
15 abnormality of the spleen occasional (7.5%) HP:0001743
16 aganglionic megacolon occasional (7.5%) HP:0002251
17 tracheoesophageal fistula occasional (7.5%) HP:0002575
18 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
19 abnormality of the gallbladder occasional (7.5%) HP:0005264
20 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
21 urogenital fistula occasional (7.5%) HP:0100589
22 duodenal stenosis occasional (7.5%) HP:0100867

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Alveolar Capillary Dysplasia

Search NIH Clinical Center for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Alveolar Capillary Dysplasia

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Anatomical Context for Alveolar Capillary Dysplasia

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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

31
Lung, Spleen, Heart, Pancreas, Eye, Testes, Endothelial

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9KIT, STRA6, FOXC2
2MP:00053708.7FOXC2, KIT, F5
3MP:00030128.6STRA6, FOXC2, KIT
4MP:00053818.5FOXF1, KIT, FOXC2
5MP:00053858.4KIT, F5, FOXF1, FOXC2
6MP:00053888.4FOXF1, FOXC2, SFTPB, KIT
7MP:00036318.2STRA6, F5, FOXC2, KIT
8MP:00053788.2STRA6, FOXC2, F5, KIT
9MP:00053808.0FOXC2, F5, KIT, FOXF1, STRA6
10MP:00053767.7SFTPB, STRA6, F5, KIT, FOXC2
11MP:00107687.3F5, KIT, SFTPB, STRA6, FOXC2, FOXF1

Publications for Alveolar Capillary Dysplasia

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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. (25899071)
2015
2
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. (25627281)
2015
3
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. (24722050)
2014
4
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. (25263726)
2014
5
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. (24842713)
2014
6
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. (23444129)
2013
7
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. (23624968)
2013
8
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. (23407133)
2013
9
Paracorporeal lung assist device: an innovative surgical strategy for bridging to lung transplant in an infant with severe pulmonary hypertension caused by alveolar capillary dysplasia. (23871141)
2013
10
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. (24829819)
2013
11
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. (23331759)
2013
12
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. (24147432)
2013
13
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. (23279022)
2012
14
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
15
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. (21194000)
2011
16
Alveolar capillary dysplasia with anorectal anomaly. (22080682)
2011
17
Alveolar capillary dysplasia. (21471096)
2011
18
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. (21410831)
2011
19
Summary of &quot;Genomic and genetic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations&quot;. (20118801)
2010
20
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
21
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
22
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. (19500772)
2009
23
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. (17874220)
2008
24
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
25
Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]. (17426375)
2006
26
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006
27
Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. (17060189)
2006
28
Alveolar capillary dysplasia with congenital misalignment of pulmonary vessels. (15793061)
2005
29
Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. (15490144)
2005
30
Alveolar capillary dysplasia: a six-year single center experience. (16207122)
2005
31
Alveolar capillary dysplasia: a logical approach to a fatal disease. (16034752)
2005
32
Expanding the phenotype of alveolar capillary dysplasia (ACD). (15520767)
2004
33
Defective lung vascular development and fatal respiratory distress in endothelial NO synthase-deficient mice: a model of alveolar capillary dysplasia? (15016731)
2004
34
Intravenous prostacyclin combined with inhaled nitric oxide therapy for an infant with alveolar capillary dysplasia. (12225554)
2002
35
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. (12012221)
2002
36
Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings. (10742415)
2000
37
Congenital misalignment of pulmonary vessels and alveolar capillary dysplasia: how to manage a neonatal irreversible lung disease? (10802846)
2000
38
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. (10792102)
2000
39
Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. (10735455)
2000
40
Alveolar capillary dysplasia: an emerging syndrome. (10228309)
1999
41
Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies. (9514134)
1998
42
Test and teach. Number eighty eight: alveolar capillary dysplasia. (9643494)
1998
43
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (9475097)
1998
44
Combined therapy with inhaled nitric oxide and intravenous prostacyclin in an infant with alveolar-capillary dysplasia. (9032222)
1997
45
Pathological case of the month. Congenital alveolar capillary dysplasia and misalignment of lung vessels. (9369882)
1997
46
Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. (8472585)
1993
47
Misalignment of pulmonary veins and alveolar capillary dysplasia. (2014189)
1991
48
Primary alveolar capillary dysplasia. (2287533)
1990
49
Congenital alveolar capillary dysplasia: a developmental vascular anomaly causing persistent pulmonary hypertension of the newborn. (4095026)
1985
50
Congenital alveolar capillary dysplasia--an unusual cause of respiratory distress in the newborn. (7293984)
1981

Variations for Alveolar Capillary Dysplasia

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Clinvar genetic disease variations for Alveolar Capillary Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXF1NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter)single nucleotide variantPathogenicrs121909336GRCh37Chr 16, 86544400: 86544400
2FOXF1NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg)single nucleotide variantPathogenicrs121909337GRCh37Chr 16, 86546689: 86546689
3FOXF1FOXF1, 1-BP DUP, 775TduplicationPathogenic
4FOXF1FOXF1, 2-BP DEL, 956TTdeletionPathogenic

Expression for genes affiliated with Alveolar Capillary Dysplasia

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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:
43Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 12DrugBank
See all sources

Compounds related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cacl2439.6F5, SFTPB
2copper43 2410.4F5, SFTPB
3p002439.4KIT, F5
4polyacrylamide439.3F5, SFTPB
5isoleucine439.3KIT, SFTPB
6phosphatidylcholine439.2F5, SFTPB
7gold439.2KIT, SFTPB
8nacl439.0F5, SFTPB
9leucine438.8F5, KIT, SFTPB
10progesterone43 28 59 24 1212.8SFTPB, KIT, F5
11vegf438.7F5, KIT, SFTPB
12nitric oxide43 24 1210.7F5, KIT, SFTPB
13threonine438.7SFTPB, KIT, F5
14retinoic acid43 249.6F5, KIT, SFTPB
15cysteine438.5SFTPB, KIT, F5

GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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Cellular components related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.6FOXF1, FOXC2
2extracellular spaceGO:00056158.2F5, KIT, SFTPB

Biological processes related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ductus arteriosus closureGO:00970709.8FOXF1, STRA6
2lung vasculature developmentGO:00604269.8FOXF1, STRA6
3artery morphogenesisGO:00488449.7FOXC2, STRA6
4lung alveolus developmentGO:00482869.7STRA6, FOXF1
5blood vessel developmentGO:00015689.6FOXF1, STRA6
6somitogenesisGO:00017569.6FOXF1, FOXC2
7regulation of sequence-specific DNA binding transcription factor activityGO:00510909.5FOXC2, FOXF1
8digestive tract developmentGO:00485659.4KIT, FOXF1
9heart developmentGO:00075079.3STRA6, FOXC2, FOXF1
10lung developmentGO:00303249.2FOXF1, STRA6
11positive regulation of cell migrationGO:00303359.2KIT, FOXF1

Molecular functions related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:00083019.6FOXF1, FOXC2
2transcription regulatory region DNA bindingGO:00442129.6FOXF1, FOXC2
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.5FOXF1, FOXC2
4double-stranded DNA bindingGO:00036909.3FOXF1, FOXC2

Products for genes affiliated with Alveolar Capillary Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alveolar Capillary Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet