MCID: ALV006
MIFTS: 43

Alveolar Capillary Dysplasia malady

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

Aliases & Classifications for Alveolar Capillary Dysplasia

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Aliases & Descriptions for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 45
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 45 51
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 45 65
Congenital Alveolar Capillary Dysplasia 45 51
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 51
 
Pulmonary Hypertension, Familial Persistent of the Newborn 45
Familial Persistent Pulmonary Hypertension of the Newborn 45
Persistent Fetal Circulation Syndrome 65
Acdmpv 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
alveolar capillary dysplasia with misalignment of pulmonary veins:
Prevalence: 1-9/100000 (Canada),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Orphanet51 210122

Summaries for Alveolar Capillary Dysplasia

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MalaCards based summary: Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary veins, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and pulmonary hypertension, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, pulmonary hypertension and stillbirth/neonatal death. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (Forkhead Box F1). The drugs tolazoline and tolazoline hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and heart, and related mouse phenotypes are pigmentation and embryogenesis.

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:

 51 (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

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS65/NDF-RT43:

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:

33
Lung, Spleen, Heart, Pancreas, Endothelial, Eye, Testes

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4FOXC2, KIT, STRA6
2MP:00053808.2F5, FOXC2, FOXF1, KIT, STRA6
3MP:00053918.1COL18A1, FOXC2, KIT, STRA6
4MP:00053857.8COL18A1, F5, FOXC2, FOXF1, KIT
5MP:00036317.6COL18A1, F5, FOXC2, KIT, STRA6

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:

5
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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GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1mesoderm developmentGO:000749810.2FOXC2, FOXF1
2somitogenesisGO:000175610.2FOXC2, FOXF1
3lung vasculature developmentGO:006042610.2FOXF1, STRA6
4ductus arteriosus closureGO:009707010.2FOXF1, STRA6
5lung alveolus developmentGO:004828610.0FOXF1, STRA6
6artery morphogenesisGO:004884410.0FOXC2, STRA6
7embryonic digestive tract developmentGO:00485669.9FOXF1, STRA6
8kidney developmentGO:00018229.7FOXC2, STRA6
9lung developmentGO:00303249.6FOXF1, STRA6
10organ morphogenesisGO:00098879.5COL18A1, FOXF1
11digestive tract developmentGO:00485659.5FOXF1, KIT
12blood vessel developmentGO:00015689.1FOXC2, FOXF1, STRA6
13heart developmentGO:00075078.9FOXC2, FOXF1, STRA6
14positive regulation of cell migrationGO:00303358.8COL18A1, FOXF1, KIT

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.7FOXC2, FOXF1

Sources for Alveolar Capillary Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet