MCID: ALV006
MIFTS: 32

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 46 66
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 46
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 46
 
Pulmonary Hypertension, Familial Persistent of the Newborn 46
Familial Persistent Pulmonary Hypertension of the Newborn 46
Congenital Alveolar Capillary Dysplasia 46

Classifications:



Summaries for Alveolar Capillary Dysplasia

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Wikipedia:69 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 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 pigmentation and craniofacial.

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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UMLS symptoms related to Alveolar Capillary Dysplasia:


neonatal cyanosis

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:

34
Lung, Heart, Endothelial, Testes, Pancreas, Eye

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4COL18A1, FOXC2, KIT, STRA6
2MP:00053828.4COL18A1, FOXC2, KIT, STRA6
3MP:00053918.2COL18A1, FOXC2, KIT, STRA6
4MP:00053808.2F5, FOXC2, FOXF1, KIT, STRA6
5MP:00053857.0COL18A1, F5, FOXC2, FOXF1, KIT, STRA6

Publications for Alveolar Capillary Dysplasia

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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. (27071622)
2016
2
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. (26615352)
2015
3
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. (25627281)
2015
4
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. (26484320)
2015
5
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. (24722050)
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 Pulmonary Veins (ACD/MPV): A Case Series. (24829819)
2013
8
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. (23331759)
2013
9
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. (22990143)
2013
10
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. (23943206)
2013
11
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. (23279022)
2012
12
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
13
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. (23023706)
2012
14
Alveolar capillary dysplasia with anorectal anomaly. (22080682)
2011
15
Alveolar capillary dysplasia. (21471096)
2011
16
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
17
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
18
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
19
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. (20425831)
2010
20
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. (20331367)
2010
21
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
22
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. (18997591)
2008
23
A neonate with coexisting congenital cystic adenomatoid malformation of the lung and alveolar capillary dysplasia: a case report with review of literature. (18477924)
2008
24
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. (18633766)
2008
25
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? (18492541)
2008
26
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
27
A rare case of aortic coarctation and ventricular septal defect combined with alveolar capillary dysplasia. (17530317)
2007
28
Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]. (17426375)
2006
29
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006
30
Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. (17060189)
2006
31
Alveolar capillary dysplasia with congenital misalignment of pulmonary vessels. (15793061)
2005
32
Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. (15490144)
2005
33
Alveolar capillary dysplasia: a logical approach to a fatal disease. (16034752)
2005
34
Prolonged survival in alveolar capillary dysplasia syndrome. (14677063)
2004
35
Modeling alveolar capillary dysplasia. (15345669)
2004
36
A novel association of alveolar capillary dysplasia and duodenal atresia with paradoxical dilatation of the duodenum. (15616937)
2004
37
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. (12012221)
2002
38
Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn. (12174004)
2002
39
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. (11178633)
2001
40
Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature. (11536028)
2001
41
Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21. (11168878)
2001
42
Alveolar capillary dysplasia: an emerging syndrome. (10228309)
1999
43
Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease. (10482172)
1999
44
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (9475097)
1998
45
Congenital alveolar capillary dysplasia: rare cause of persistent pulmonary hypertension. (9353836)
1997
46
Persistent pulmonary hypertension of the newborn due to alveolar capillary dysplasia. (1409149)
1992
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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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
1lung vasculature developmentGO:006042610.3FOXF1, STRA6
2ductus arteriosus closureGO:009707010.3FOXF1, STRA6
3lung alveolus developmentGO:004828610.2FOXF1, STRA6
4artery morphogenesisGO:004884410.1FOXC2, STRA6
5embryonic digestive tract developmentGO:004856610.1FOXF1, STRA6
6mesoderm developmentGO:000749810.1FOXC2, FOXF1
7kidney developmentGO:00018229.9FOXC2, STRA6
8lung developmentGO:00303249.8FOXF1, STRA6
9somitogenesisGO:00017569.8FOXC2, FOXF1
10digestive tract developmentGO:00485659.8FOXF1, KIT
11animal organ morphogenesisGO:00098879.5COL18A1, FOXF1
12blood vessel developmentGO:00015689.2FOXC2, FOXF1, STRA6
13heart developmentGO:00075079.2FOXC2, FOXF1, STRA6
14positive regulation of cell migrationGO:00303358.4COL18A1, 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:00037059.6FOXC2, FOXF1

Sources for Alveolar Capillary Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet