MCID: ALV006
MIFTS: 30

Alveolar Capillary Dysplasia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Alveolar Capillary Dysplasia

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Aliases & Descriptions for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 48 68
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 48
 
Pulmonary Hypertension, Familial Persistent of the Newborn 48
Familial Persistent Pulmonary Hypertension of the Newborn 48
Congenital Alveolar Capillary Dysplasia 48

Classifications:



Summaries for Alveolar Capillary Dysplasia

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Wikipedia:71 Alveolar capillary dysplasia (ACD, sometimes denoted ACDMPV when including misalignment of the pulmonary... more...

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 persistent fetal circulation syndrome, and has symptoms including neonatal cyanosis An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (Forkhead Box F1). Affiliated tissues include lung, heart and endothelial, and related mouse phenotypes are craniofacial and pigmentation.

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 & Phenotypes for Alveolar Capillary Dysplasia

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UMLS symptoms related to Alveolar Capillary Dysplasia:


neonatal cyanosis

MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2COL18A1, FOXC2, KIT, STRA6
2MP:00011869.2COL18A1, FOXC2, KIT, STRA6
3MP:00053808.5F5, FOXC2, FOXF1, KIT, STRA6
4MP:00053918.5COL18A1, FOXC2, KIT, STRA6
5MP:00053858.1COL18A1, F5, FOXC2, FOXF1, KIT, STRA6

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alveolar Capillary Dysplasia

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:

36
Lung, Heart, Endothelial, Testes, Pancreas, Eye

Publications for Alveolar Capillary Dysplasia

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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. (27071622)
2016
2
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. (27439648)
2016
3
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. (27109257)
2016
4
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment ofA Pulmonary Veins. (26703872)
2016
5
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. (28008732)
2016
6
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. (26615352)
2015
7
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. (25627281)
2015
8
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. (26484320)
2015
9
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. (25899071)
2015
10
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. (24722050)
2014
11
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. (25263726)
2014
12
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
13
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. (24079727)
2014
14
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. (25052575)
2014
15
Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. (24675018)
2014
16
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. (23444129)
2013
17
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. (24829819)
2013
18
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. (23331759)
2013
19
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. (22990143)
2013
20
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. (23943206)
2013
21
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. (23624968)
2013
22
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. (23407133)
2013
23
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
24
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. (24147432)
2013
25
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. (23505205)
2013
26
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. (23279022)
2012
27
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
28
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. (23023706)
2012
29
Alveolar capillary dysplasia with anorectal anomaly. (22080682)
2011
30
Alveolar capillary dysplasia. (21471096)
2011
31
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. (21194000)
2011
32
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. (21410831)
2011
33
Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy. (21835371)
2011
34
Summary of "Genomic and genetic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations". (20118801)
2010
35
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
36
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
37
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. (20425831)
2010
38
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. (20331367)
2010
39
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
40
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. (18997591)
2008
41
A neonate with coexisting congenital cystic adenomatoid malformation of the lung and alveolar capillary dysplasia: a case report with review of literature. (18477924)
2008
42
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. (18633766)
2008
43
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? (18492541)
2008
44
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. (17874220)
2008
45
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (18983610)
2008
46
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
47
A rare case of aortic coarctation and ventricular septal defect combined with alveolar capillary dysplasia. (17530317)
2007
48
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (17273977)
2007
49
Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]. (17426375)
2006
50
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006

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)SNVPathogenicrs121909336GRCh37Chr 16, 86544400: 86544400
2FOXF1NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg)SNVPathogenicrs121909337GRCh37Chr 16, 86546689: 86546689
3FOXF1FOXF1, 1-BP DUP, 775TduplicationPathogenicChr na, -1: -1
4FOXF1FOXF1, 2-BP DEL, 956TTdeletionPathogenicChr na, -1: -1

Copy number variations for Alveolar Capillary Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1105773168270000085600000MicrodeletionFOXF1Alveolar capillary dysplasia

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
1ductus arteriosus closureGO:009707010.3FOXF1, STRA6
2embryonic digestive tract developmentGO:004856610.3FOXF1, STRA6
3artery morphogenesisGO:004884410.3FOXC2, STRA6
4mesoderm developmentGO:000749810.3FOXC2, FOXF1
5lung alveolus developmentGO:004828610.3FOXF1, STRA6
6animal organ morphogenesisGO:000988710.3COL18A1, FOXF1
7lung developmentGO:003032410.3FOXF1, STRA6
8lung vasculature developmentGO:006042610.3FOXF1, STRA6
9kidney developmentGO:000182210.3FOXC2, STRA6
10digestive tract developmentGO:004856510.2FOXF1, KIT
11blood vessel developmentGO:00015689.9FOXC2, FOXF1, STRA6
12heart developmentGO:00075079.9FOXC2, FOXF1, STRA6
13somitogenesisGO:00017569.7FOXC2, FOXF1
14positive regulation of cell migrationGO:00303359.4COL18A1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet