MCID: ALV006
MIFTS: 41

Alveolar Capillary Dysplasia

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Alveolar Capillary Dysplasia

MalaCards integrated aliases for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 49 69
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 49
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 49
Pulmonary Hypertension, Familial Persistent of the Newborn 49
Familial Persistent Pulmonary Hypertension of the Newborn 49
Congenital Alveolar Capillary Dysplasia 49

Classifications:



Summaries for Alveolar Capillary Dysplasia

NIH Rare Diseases : 49 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. Last updated: 9/23/2015

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 hydronephrosis, single umbilical artery and ventricular septal defect. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (Forkhead Box F1). Affiliated tissues include lung, heart and pancreas, and related phenotypes are cardiovascular system and craniofacial

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

Human phenotypes related to Alveolar Capillary Dysplasia:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 31 occasional (7.5%) HP:0000126
2 single umbilical artery 31 occasional (7.5%) HP:0001195
3 ventricular septal defect 31 occasional (7.5%) HP:0001629
4 atrial septal defect 31 occasional (7.5%) HP:0001631
5 tetralogy of fallot 31 occasional (7.5%) HP:0001636
6 patent ductus arteriosus 31 frequent (33%) HP:0001643
7 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
8 aortic valve stenosis 31 occasional (7.5%) HP:0001650
9 annular pancreas 31 occasional (7.5%) HP:0001734
10 asplenia 31 occasional (7.5%) HP:0001746
11 anal atresia 31 occasional (7.5%) HP:0002023
12 pulmonary arterial hypertension 31 hallmark (90%) HP:0002092
13 respiratory distress 31 hallmark (90%) HP:0002098
14 aganglionic megacolon 31 occasional (7.5%) HP:0002251
15 intestinal malrotation 31 frequent (33%) HP:0002566
16 tracheoesophageal fistula 31 occasional (7.5%) HP:0002575
17 volvulus 31 occasional (7.5%) HP:0002580
18 abnormal vertebral morphology 31 occasional (7.5%) HP:0003468
19 hypoplastic left heart 31 frequent (33%) HP:0004383
20 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
21 pulmonary valve atresia 31 occasional (7.5%) HP:0010882
22 absent gallbladder 31 occasional (7.5%) HP:0011467
23 duodenal stenosis 31 occasional (7.5%) HP:0100867

MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 COL18A1 F5 FOXC2 FOXF1 KIT STRA6
2 craniofacial MP:0005382 9.46 COL18A1 FOXC2 KIT STRA6
3 embryo MP:0005380 9.35 F5 FOXC2 FOXF1 KIT STRA6
4 pigmentation MP:0001186 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:

38
Lung, Heart, Pancreas, Endothelial, Testes, Eye

Publications for Alveolar Capillary Dysplasia

Articles related to Alveolar Capillary Dysplasia:

(show top 50) (show all 101)
# Title Authors Year
1
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. ( 28469849 )
2017
2
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
3
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. ( 28256047 )
2017
4
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. ( 29198536 )
2017
5
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
6
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment ofA Pulmonary Veins. ( 26703872 )
2016
7
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. ( 27439648 )
2016
8
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. ( 28008732 )
2016
9
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
10
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. ( 28725341 )
2016
11
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. ( 25627281 )
2015
12
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
13
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. ( 25899071 )
2015
14
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. ( 26615352 )
2015
15
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. ( 24079727 )
2014
16
Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. ( 24675018 )
2014
17
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
2014
18
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. ( 25263726 )
2014
19
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
20
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
21
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
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
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. ( 23624968 )
2013
24
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
2013
25
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
26
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
27
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23444129 )
2013
28
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
29
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. ( 23331759 )
2013
30
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
31
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. ( 23279022 )
2012
32
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. ( 23063659 )
2012
33
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. ( 23023706 )
2012
34
Alveolar capillary dysplasia. ( 21471096 )
2011
35
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. ( 21194000 )
2011
36
Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy. ( 21835371 )
2011
37
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. ( 21410831 )
2011
38
Alveolar capillary dysplasia with anorectal anomaly. ( 22080682 )
2011
39
Omphalocele and alveolar capillary dysplasia: a new association. ( 20453609 )
2010
40
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. ( 20425831 )
2010
41
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
42
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. ( 20331367 )
2010
43
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 20459541 )
2010
44
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
45
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. ( 18997591 )
2008
46
A neonate with coexisting congenital cystic adenomatoid malformation of the lung and alveolar capillary dysplasia: a case report with review of literature. ( 18477924 )
2008
47
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. ( 17874220 )
2008
48
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. ( 18633766 )
2008
49
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 18983610 )
2008
50
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? ( 18492541 )
2008

Variations for Alveolar Capillary Dysplasia

ClinVar genetic disease variations for Alveolar Capillary Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh37 Chromosome 16, 86544400: 86544400
2 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh37 Chromosome 16, 86546689: 86546689
3 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
4 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic

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 lung development GO:0030324 9.52 FOXF1 STRA6
5 camera-type eye development GO:0043010 9.51 FOXC2 STRA6
6 positive regulation of cell migration GO:0030335 9.5 COL18A1 FOXF1 KIT
7 somitogenesis GO:0001756 9.49 FOXC2 FOXF1
8 mesoderm development GO:0007498 9.48 FOXC2 FOXF1
9 digestive tract development GO:0048565 9.46 FOXF1 KIT
10 lung alveolus development GO:0048286 9.43 FOXF1 STRA6
11 artery morphogenesis GO:0048844 9.37 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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