MCID: ALV006
MIFTS: 33

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 72
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 72 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: 210122DefinitionCongenital 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). The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and heart, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 75 Alveolar capillary dysplasia (ACD) is a rare, congenital diffuse lung disease characterized by abnormal... more...

Related Diseases for Alveolar Capillary Dysplasia

Diseases related to Alveolar Capillary Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 33.7 LINC01081 FOXF1 COL18A1
2 persistent fetal circulation syndrome 11.8
3 pulmonary hypertension 10.8
4 respiratory failure 10.5
5 duodenal atresia 10.4
6 lung disease 10.3
7 heart septal defect 10.3
8 cyanosis, transient neonatal 10.2
9 atrioventricular septal defect 10.2
10 neonatal respiratory failure 10.2
11 heart disease 10.2
12 ventricular septal defect 10.2
13 hypoplastic left heart syndrome 10.2
14 aortic coarctation 10.2
15 down syndrome 10.1
16 anus, imperforate 10.1
17 omphalocele 10.1
18 atrial heart septal defect 10.1
19 chromosomal triplication 10.1
20 pancreas, annular 9.9
21 pulmonary hypertension, primary, 1 9.9
22 tracheoesophageal fistula with or without esophageal atresia 9.9
23 fryns syndrome 9.9
24 fryns microphthalmia syndrome 9.9
25 microphthalmia, syndromic 9 9.9
26 inguinal hernia 9.9
27 anterior segment dysgenesis 9.9
28 esophageal atresia 9.9
29 microphthalmia 9.9
30 oligohydramnios 9.9
31 hypothyroidism 9.9
32 pneumothorax 9.9
33 gastric dilatation 9.9
34 duodenal obstruction 9.9
35 double outlet right ventricle 9.9
36 polyhydramnios 9.9
37 bronchopulmonary dysplasia 9.9
38 partial atrioventricular canal 9.9
39 phocomelia 9.9
40 posterior urethral valves 9.9
41 atresia of urethra 9.9
42 maternal uniparental disomy 9.9
43 cardiogenic shock 9.9
44 varicose veins 9.7 FOXC2 F5
45 polycythemia vera 9.1 KIT F5

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

Drugs for Alveolar Capillary Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 3 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
3 Sildenafil Citrate Phase 3 171599-83-0
4 Citrate Phase 3
5 Phosphodiesterase Inhibitors Phase 3
6 Phosphodiesterase 5 Inhibitors Phase 3
7 Vasodilator Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A MULTI-CENTRE, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLIND, TWO-ARMED, PARALLEL GROUP STUDY TO EVALUATE EFFICACY AND SAFETY OF IV SILDENAFIL IN THE TREATMENT OF NEONATES WITH PERSISTENT PULMONARY HYPERTENSION OF THE NEWBORN (PPHN) OR HYPOXIC RESPIRATORY FAILURE AND AT RISK FOR PPHN, WITH A LONG TERM FOLLOW-UP INVESTIGATION OF DEVELOPMENTAL PROGRESS 12 AND 24 MONTHS AFTER COMPLETION OF STUDY TREATMENT Active, not recruiting NCT01720524 Phase 3 placebo;iv sildenafil

Search 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, Endothelial, Testes, Pancreas, Eye

Publications for Alveolar Capillary Dysplasia

Articles related to Alveolar Capillary Dysplasia:

(show top 50) (show all 180)
# Title Authors PMID Year
1
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. 38
31436901 2019
2
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 38
31074124 2019
3
Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival. 38
30853201 2019
4
A Step Towards Treating a Lethal Neonatal Lung Disease: STAT3 and Alveolar Capillary Dysplasia. 38
31343895 2019
5
Successful lung donation at the age of 6 weeks: Challenges and lessons learned. 38
31012231 2019
6
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. 38
31189067 2019
7
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. 38
31199666 2019
8
Lung Ultrasound to Assess the Etiology of Persistent Pulmonary Hypertension of the Newborn (LUPPHYN Study): A Pilot Study. 38
31096216 2019
9
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 38
30961659 2019
10
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. 38
30084155 2018
11
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 38
30380203 2018
12
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. 38
30058937 2018
13
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. 38
29198536 2018
14
Alveolar capillary dysplasia with left heart obstruction - rare but lethal. 38
30040748 2018
15
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. 38
28405742 2017
16
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. 38
28256047 2017
17
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 38
28332379 2017
18
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. 38
28469849 2017
19
Risk and relevance of open lung biopsy in pediatric ECMO patients: the Dutch experience. 38
27894766 2017
20
The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders. 38
28316463 2017
21
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. 38
28008732 2016
22
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. 38
27638768 2016
23
Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. 38
27145217 2016
24
Long-range enhancers modulate Foxf1 transcription in blood vessels of pulmonary vascular network. 38
27166834 2016
25
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. 38
27439648 2016
26
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. 38
28725341 2016
27
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. 38
27109257 2016
28
Pre-cannulation lung biopsy shortens ECMO course. 38
27086306 2016
29
[Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age]. 38
27164352 2016
30
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. 38
27071622 2016
31
Pulmonary hypertension associated with acute or chronic lung diseases in the preterm and term neonate and infant. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. 38
27053698 2016
32
[Clinicopathological analysis of pulmonary vascular disease in 38 neonates died of respiratory failure]. 38
28446408 2016
33
Recommendations for utilization of the paracorporeal lung assist device in neonates and young children with pulmonary hypertension. 38
26899454 2016
34
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 38
26703872 2016
35
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. 38
27822317 2016
36
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. 38
26615352 2015
37
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis. 38
26462560 2015
38
Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia. 38
26495172 2015
39
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. 38
25899071 2015
40
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. 38
26085809 2015
41
[Alveolar capillary dysplasia with misalignment of pulmonary veins: a fatal cause of refractory neonatal cyanosis]. 38
25497366 2015
42
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. 38
25627281 2015
43
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. 38
25052575 2015
44
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. 38
26484320 2015
45
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. 38
25472632 2014
46
Pulmonary vascular development goes awry in congenital lung abnormalities. 38
25424472 2014
47
Hereditary interstitial lung diseases manifesting in early childhood in Japan. 38
25105258 2014
48
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. 38
25263726 2014
49
FOXF1 transcription factor is required for formation of embryonic vasculature by regulating VEGF signaling in endothelial cells. 38
25091710 2014
50
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. 38
24842713 2014

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

Sources for Alveolar Capillary Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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