MCID: ALV006
MIFTS: 39

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 54 74
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 54
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 54
Pulmonary Hypertension, Familial Persistent of the Newborn 54
Familial Persistent Pulmonary Hypertension of the Newborn 54
Congenital Alveolar Capillary Dysplasia 54

Classifications:



External Ids:

UMLS 74 C2677362

Summaries for Alveolar Capillary Dysplasia

NIH Rare Diseases : 54 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). The drugs Sodium Citrate and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and brain, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 77 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:

47
# 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 top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 68-04-2
2
tannic acid Approved Phase 4,Phase 3 1401-55-4
3
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
4
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068
5
Adenosine Approved, Investigational Phase 4 58-61-7 60961
6
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
7
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 77-92-9 311
8 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 171599-83-0
10 Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Pharmaceutical Solutions Phase 4,Phase 3
14 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Free Radical Scavengers Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
22 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
23 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Endothelial Growth Factors Phase 4
25 Mitogens Phase 4
26 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
27
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
28
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
29 Hormone Antagonists Phase 3,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
31 Hormones Phase 3,Phase 2
32 Progestins Phase 3
33 Caproate Phase 3
34 17 alpha-Hydroxyprogesterone Caproate Phase 3
35 Estrogens Phase 3
36 11-hydroxyprogesterone Phase 3
37 Estrogen Antagonists Phase 3
38 Estrogen Receptor Antagonists Phase 3
39 Antihypertensive Agents Phase 3,Phase 2
40 Endothelin Receptor Antagonists Phase 3
41
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
42
Darbepoetin alfa Approved, Investigational Phase 1, Phase 2 11096-26-7, 209810-58-2
43
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
44
Milrinone Approved Phase 2,Not Applicable 78415-72-2 4197
45 Tezosentan Investigational Phase 2 180384-57-0
46 Betamethasone benzoate Phase 2
47 Betamethasone sodium phosphate Phase 2
48 Betamethasone-17,21-dipropionate Phase 2
49 Anti-Inflammatory Agents Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
2 Inhaled Nitric Oxide by Oxygen Hood in Neonates Completed NCT00732537 Phase 4 inhaled Nitric Oxide;Oxygen (>90% by hood) - standard therapy
3 Early iNO for Oxidative Stress, Vascular Tone and Inflammation in Babies With Hypoxic Respiratory Failure Recruiting NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO
4 Inhaled Iloprost for the Treatment of Persistent Pulmonary Hypertension in the Term and Near Term Infants. Terminated NCT00409526 Phase 4 Inhaled Iloprost
5 Sildenofil in Persistent Pulmonary Hypertension in Newborns Unknown status NCT01558466 Phase 3 Sildenafil;diluent
6 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)
7 A Study To Evaluate Safety And Efficacy Of IV Sildenafil In The Treatment Of Neonates With Persistent Pulmonary Hypertension Of The Newborn Active, not recruiting NCT01720524 Phase 3 placebo;iv sildenafil
8 Persistent Pulmonary Hypertension of the Newborn Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
9 Inhaled Nitric Oxide Study for Respiratory Failure in Newborns Terminated NCT00005776 Phase 3 Inhaled nitric oxide;Placebo
10 Early Inhaled Nitric Oxide for Respiratory Failure in Newborns Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
11 Efficacy of Antenatal Steroids in Reducing Respiratory Morbidities in Late Preterm Infants Unknown status NCT01206946 Phase 2 Betamethasone
12 Darbe Administration in Newborns Undergoing Cooling for Encephalopathy Completed NCT01471015 Phase 1, Phase 2 Darbepoetin alfa;Darbepoetin alfa;Placebo
13 Remodulin as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
14 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
15 Study To Investigate Safety And Efficacy Of Sildenafil In The Newborns With Persistent Pulmonary Hypertension (PPHN) Terminated NCT01069861 Phase 2 sildanefil
16 IV Sildenafil Persistent Pulmonary Hypertension Of The Newborn Withdrawn NCT01360671 Phase 2 Sildenafil
17 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
18 Inhaled PGE1 in Neonatal Hypoxemic Respiratory Failure Withdrawn NCT00598429 Phase 2 Inhaled Prostaglandin E1
19 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
20 Nitro Oxide Inhalation Continued With Sildenafil on Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 Not Applicable NO inhalation;NO inhalation continued with sildenafil
21 Plethismographic Perfusion Index in Neonates Unknown status NCT02380040
22 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
23 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
24 NO Need to Ventilate: A Trial of Non-invasive Inhaled Nitric Oxide in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 Not Applicable iNO
25 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
26 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
27 A Non-Interventional Follow Up Study For Subjects Who Received Sildenafil for Persistent Pulmonary Hypertension of the Newborn (PPHN) Completed NCT01801982
28 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
29 PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn Recruiting NCT00710177
30 Markers of Inflammation and Lung Recovery in ECMO Patients for PPHN Recruiting NCT02940327
31 Evaluation of the Prevalence of Persistent Pulmonary Hypertension in Neonates Not yet recruiting NCT03499418
32 A Prospective, Randomized and Placebo Controlled Trial Comparing the Role of ARTificial Uterine CONtractions and no Intervention in Perinatal Respiratory Morbidity of Term Infants Delivered by Elective Caesarean Section Not yet recruiting NCT03899597 Not Applicable Oxytocin
33 Pharmacokinetic Study of Milrinone in Babies With Persistent Pulmonary Hypertension of the Newborn Terminated NCT01088997 Not Applicable Milrinone Lactate
34 N-Terminal Pro-brain Natriuretic Peptide Hormone and Persistent Pulmonary Hypertension Terminated NCT00443859

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:

42
Lung, Skin, Brain, Heart, Endothelial, Eye, Pancreas

Publications for Alveolar Capillary Dysplasia

Articles related to Alveolar Capillary Dysplasia:

(show top 50) (show all 106)
# Title Authors Year
1
Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival. ( 30853201 )
2019
2
Alveolar capillary dysplasia with left heart obstruction - rare but lethal. ( 30040748 )
2018
3
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. ( 30058937 )
2018
4
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. ( 30380203 )
2018
5
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. ( 28256047 )
2017
6
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. ( 28469849 )
2017
7
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
8
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. ( 29198536 )
2017
9
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. ( 27439648 )
2016
10
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment ofA Pulmonary Veins. ( 26703872 )
2016
11
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
12
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. ( 28725341 )
2016
13
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
14
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. ( 28008732 )
2016
15
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. ( 25899071 )
2015
16
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. ( 26615352 )
2015
17
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. ( 25627281 )
2015
18
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
19
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
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
Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. ( 24675018 )
2014
22
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. ( 24079727 )
2014
23
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. ( 25263726 )
2014
24
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
25
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
26
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
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
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
31
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. ( 23624968 )
2013
32
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
2013
33
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
34
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
35
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. ( 23279022 )
2012
36
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. ( 23023706 )
2012
37
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. ( 23063659 )
2012
38
Alveolar capillary dysplasia. ( 21471096 )
2011
39
Alveolar capillary dysplasia with anorectal anomaly. ( 22080682 )
2011
40
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. ( 21194000 )
2011
41
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. ( 21410831 )
2011
42
Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy. ( 21835371 )
2011
43
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
44
Omphalocele and alveolar capillary dysplasia: a new association. ( 20453609 )
2010
45
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 20459541 )
2010
46
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. ( 20425831 )
2010
47
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. ( 20331367 )
2010
48
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
49
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? ( 18492541 )
2008
50
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. ( 18997591 )
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

Sources for Alveolar Capillary Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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