MCID: ALV006
MIFTS: 36

Alveolar Capillary Dysplasia

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Alveolar Capillary Dysplasia

MalaCards integrated aliases for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 53 73
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 53
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 53
Pulmonary Hypertension, Familial Persistent of the Newborn 53
Familial Persistent Pulmonary Hypertension of the Newborn 53
Congenital Alveolar Capillary Dysplasia 53

Classifications:



External Ids:

UMLS 73 C2677362

Summaries for Alveolar Capillary Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 210122Disease definitionCongenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.Visit the Orphanet disease page for more resources.

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. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (Forkhead Box F1). Affiliated tissues include lung, skin and heart, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 76 Alveolar capillary dysplasia (ACD) is a rare, congenital diffuse lung disease characterized by abnormal... more...

Related Diseases for Alveolar Capillary Dysplasia

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



Diseases related to Alveolar Capillary Dysplasia

Symptoms & Phenotypes for Alveolar Capillary Dysplasia

MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 COL18A1 F5 FOXC2 FOXF1 KIT STRA6
2 craniofacial MP:0005382 9.56 COL18A1 FOXC2 KIT STRA6
3 embryo MP:0005380 9.55 F5 FOXC2 FOXF1 KIT STRA6
4 pigmentation MP:0001186 9.26 COL18A1 FOXC2 KIT STRA6
5 vision/eye MP:0005391 8.92 COL18A1 FOXC2 KIT STRA6

Drugs & Therapeutics for Alveolar Capillary Dysplasia

Search Clinical Trials , NIH Clinical Center for Alveolar Capillary Dysplasia

Genetic Tests for Alveolar Capillary Dysplasia

Anatomical Context for Alveolar Capillary Dysplasia

MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

41
Lung, Skin, Heart, Testes, Eye, Endothelial, Pancreas

Publications for Alveolar Capillary Dysplasia

Articles related to Alveolar Capillary Dysplasia:

(show top 50) (show all 105)
# Title Authors Year
1
Alveolar capillary dysplasia with left heart obstruction - rare but lethal. ( 30040748 )
2018
2
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. ( 30058937 )
2018
3
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. ( 30380203 )
2018
4
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. ( 28256047 )
2017
5
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. ( 28469849 )
2017
6
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
7
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. ( 29198536 )
2017
8
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. ( 27439648 )
2016
9
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment ofA Pulmonary Veins. ( 26703872 )
2016
10
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
11
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. ( 28725341 )
2016
12
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
13
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. ( 28008732 )
2016
14
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. ( 25899071 )
2015
15
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. ( 26615352 )
2015
16
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. ( 25627281 )
2015
17
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
18
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
2014
19
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
20
Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. ( 24675018 )
2014
21
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. ( 24079727 )
2014
22
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. ( 25263726 )
2014
23
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
24
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
25
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
2013
26
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23444129 )
2013
27
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
28
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. ( 23331759 )
2013
29
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
30
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. ( 23624968 )
2013
31
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
2013
32
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
33
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
34
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. ( 23279022 )
2012
35
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. ( 23023706 )
2012
36
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. ( 23063659 )
2012
37
Alveolar capillary dysplasia. ( 21471096 )
2011
38
Alveolar capillary dysplasia with anorectal anomaly. ( 22080682 )
2011
39
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. ( 21194000 )
2011
40
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. ( 21410831 )
2011
41
Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy. ( 21835371 )
2011
42
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
43
Omphalocele and alveolar capillary dysplasia: a new association. ( 20453609 )
2010
44
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 20459541 )
2010
45
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. ( 20425831 )
2010
46
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. ( 20331367 )
2010
47
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
48
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? ( 18492541 )
2008
49
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. ( 18997591 )
2008
50
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. ( 18633766 )
2008

Variations for Alveolar Capillary Dysplasia

Copy number variations for Alveolar Capillary Dysplasia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 105773 16 82700000 85600000 Microdeletion FOXF1 Alveolar capillary dysplasia

Expression for Alveolar Capillary Dysplasia

Search GEO for disease gene expression data for Alveolar Capillary Dysplasia.

Pathways for Alveolar Capillary Dysplasia

GO Terms for Alveolar Capillary Dysplasia

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.58 FOXC2 FOXF1 STRA6
2 animal organ morphogenesis GO:0009887 9.55 COL18A1 FOXF1
3 kidney development GO:0001822 9.54 FOXC2 STRA6
4 positive regulation of cell migration GO:0030335 9.54 COL18A1 FOXF1 KIT
5 lung development GO:0030324 9.52 FOXF1 STRA6
6 camera-type eye development GO:0043010 9.51 FOXC2 STRA6
7 somitogenesis GO:0001756 9.49 FOXC2 FOXF1
8 mesoderm development GO:0007498 9.48 FOXC2 FOXF1
9 lung alveolus development GO:0048286 9.46 FOXF1 STRA6
10 digestive tract development GO:0048565 9.43 FOXF1 KIT
11 artery morphogenesis GO:0048844 9.32 FOXC2 STRA6
12 embryonic digestive tract development GO:0048566 9.26 FOXF1 STRA6
13 lung vasculature development GO:0060426 9.16 FOXF1 STRA6
14 ductus arteriosus closure GO:0097070 8.96 FOXF1 STRA6
15 blood vessel development GO:0001568 8.8 FOXC2 FOXF1 STRA6

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 FOXC2 FOXF1

Sources for Alveolar Capillary Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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