MCID: ALV006
MIFTS: 36

Alveolar Capillary Dysplasia malady

Genetic category

Summaries for Alveolar Capillary Dysplasia

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64Wikipedia, 33MalaCards
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Wikipedia:64 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital... more...

MalaCards: Alveolar Capillary Dysplasia, also known as pulmonary hypertension, familial persistent of the newborn, is related to protein s deficiency and congenital diaphragmatic hernia. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (forkhead box F1). The compounds cacl2 and isoleucine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and pancreas, and related mouse phenotypes are cardiovascular system and embryogenesis.

Aliases & Classifications for Alveolar Capillary Dysplasia

Sources:
43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

alveolar capillary dysplasia 43
pulmonary hypertension, familial persistent of the newborn 43
familial persistent pulmonary hypertension of the newborn 43
congenital alveolar capillary dysplasia 43


Related Diseases for Alveolar Capillary Dysplasia

Sources:
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

Drugs & Therapeutics for Alveolar Capillary Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alveolar Capillary Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Alveolar Capillary Dysplasia

Search CenterWatch for Alveolar Capillary Dysplasia

Genetic Tests for Alveolar Capillary Dysplasia

Anatomical Context for Alveolar Capillary Dysplasia

Sources:
33MalaCards
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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

33
Lung, Heart, Pancreas, B cells, Endothelial

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

37
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

Sources:
51PubMed
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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. (23444129)
2013
2
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. (23624968)
2013
3
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. (23407133)
2013
4
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
5
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
6
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. (23023706)
2012
7
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. (21194000)
2011
8
Alveolar capillary dysplasia. (21471096)
2011
9
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. (21410831)
2011
10
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
11
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
12
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
13
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. (20425831)
2010
14
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. (20331367)
2010
15
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. (17874220)
2008
16
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. (18997591)
2008
17
A neonate with coexisting congenital cystic adenomatoid malformation of the lung and alveolar capillary dysplasia: a case report with review of literature. (18477924)
2008
18
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (18983610)
2008
19
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. (18633766)
2008
20
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? (18492541)
2008
21
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
22
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
23
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006
24
Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. (17060189)
2006
25
Late presentation of alveolar capillary dysplasia in an infant. (16474258)
2006
26
CR3/108--Congenital alveolar capillary dysplasia with familiary microphthalmia. (17036407)
2006
27
Alveolar capillary dysplasia with congenital misalignment of pulmonary vessels. (15793061)
2005
28
Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. (15490144)
2005
29
Alveolar capillary dysplasia: a six-year single center experience. (16207122)
2005
30
Alveolar capillary dysplasia: a logical approach to a fatal disease. (16034752)
2005
31
Alveolar capillary dysplasia in an infant with trisomy 21. (16235130)
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
Modeling alveolar capillary dysplasia. (15345669)
2004
35
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. (12012221)
2002
36
Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn. (12174004)
2002
37
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
38
Congenital misalignment of pulmonary vessels and alveolar capillary dysplasia: how to manage a neonatal irreversible lung disease? (10802846)
2000
39
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. (10792102)
2000
40
Alveolar capillary dysplasia: diagnostic potential for cardiac catheterization. (10685275)
1999
41
Test and teach. Number eighty eight: alveolar capillary dysplasia. (9643494)
1998
42
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (9475097)
1998
43
Congenital alveolar capillary dysplasia: rare cause of persistent pulmonary hypertension. (9353836)
1997
44
Alveolar capillary dysplasia--a cause of persistent pulmonary hypertension unresponsive to a second course of extracorporeal membrane oxygenation. (7491243)
1995
45
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. (8283361)
1994
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

Genetic Variations for Alveolar Capillary Dysplasia

Expression for genes affiliated with Alveolar Capillary Dysplasia

Sources:
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

Compounds for genes affiliated with Alveolar Capillary Dysplasia

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cacl2459.5SFTPB, F5
2isoleucine459.1SFTPB, KIT
3p002459.0KIT, F5
4gold458.7SFTPB, KIT
5leucine458.6SFTPB, F5, KIT
6progesterone45 60 29 11 2412.5SFTPB, F5, KIT
7vegf458.5F5, SFTPB, KIT

GO Terms for genes affiliated with Alveolar Capillary Dysplasia

Sources:
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:0970709.8STRA6, FOXF1
2lung vasculature developmentGO:0604269.7STRA6, FOXF1
3artery morphogenesisGO:0488449.6STRA6, FOXC2
4somitogenesisGO:0017569.6FOXF1, FOXC2
5lung alveolus developmentGO:0482869.6STRA6, FOXF1
6lung developmentGO:0303249.5STRA6, FOXF1
7blood vessel developmentGO:0015689.4FOXF1, STRA6
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Alveolar Capillary Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet