ACDMPV
MCID: ALV007
MIFTS: 48

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

MalaCards integrated aliases for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

Name: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 57 20 43 58 72 36 13
Alveolar Capillary Dysplasia 20 43 72 70
Acdmpv 57 43 58 72
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies 57 72 6
Congenital Alveolar Capillary Dysplasia 20 43 58
Familial Persistent Pulmonary Hypertension of the Newborn 20 43
Acd 43 72
Dysplasia, Capillary, Alveolar, with Misalignment of Pulmonary Veins 39
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 58
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 20
Pulmonary Hypertension, Familial Persistent of the Newborn 20
Persistent Fetal Circulation Syndrome 70
Misalignment of the Pulmonary Vessels 43
Acd/mpv 43

Characteristics:

Orphanet epidemiological data:

58
congenital alveolar capillary dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
lethal in the neonatal period
features other than acd/mpv are variably present


HPO:

31
alveolar capillary dysplasia with misalignment of pulmonary veins:
Onset and clinical course neonatal death
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

MedlinePlus Genetics : 43 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide.Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder.Most infants with ACD/MPV are born with additional abnormalities. These may include abnormal twisting (malrotation) of the large intestine or other malformations of the gastrointestinal tract. Cardiovascular and genitourinary abnormalities are also common in affected individuals.Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. They experience shortness of breath and cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood. Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks.

MalaCards based summary : Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, also known as alveolar capillary dysplasia, is related to persistent fetal circulation syndrome and amyloidosis, primary localized cutaneous, 3. An important gene associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins is FOXF1 (Forkhead Box F1). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and pancreas, and related phenotypes are pulmonary arterial hypertension and respiratory distress

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210122 Definition Congenital 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.

OMIM® : 57 Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004). (265380) (Updated 05-Apr-2021)

KEGG : 36 Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN). FOXF1 is pathogenic for ACD/MPV and most of the cases have been reported to occur sporadically.

UniProtKB/Swiss-Prot : 72 Alveolar capillary dysplasia with misalignment of pulmonary veins: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.

Wikipedia : 73 Alveolar capillary dysplasia (ACD) is a rare, congenital diffuse lung disease characterized by abnormal... more...

Related Diseases for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 persistent fetal circulation syndrome 32.0 FOXF1 FENDRR
2 amyloidosis, primary localized cutaneous, 3 11.4
3 dyskeratosis congenita 11.4
4 alopecia-contractures-dwarfism mental retardation syndrome 11.3
5 dyskeratosis congenita, autosomal dominant 6 11.3
6 hoyeraal hreidarsson syndrome 11.2
7 allergic contact dermatitis 11.2
8 pulmonary fibrosis 11.1
9 corneal dystrophy, avellino type 11.1
10 aplastic anemia 11.0
11 dyskeratosis congenita autosomal dominant 11.0
12 dyskeratosis congenita autosomal recessive 11.0
13 pulmonary hypertension 10.9
14 acrofacial dysostosis, catania type 10.9
15 acute cholinergic dysautonomia 10.9
16 alopecia-contractures-dwarfism-intellectual disability syndrome 10.9
17 melanoma, cutaneous malignant 1 10.9
18 sacral defect with anterior meningocele 10.9
19 campomelic dysplasia 10.9
20 revesz syndrome 10.9
21 coats disease 10.9
22 febrile seizures, familial, 4 10.9
23 retinitis pigmentosa 50 10.9
24 familial febrile seizures 10.9
25 frontometaphyseal dysplasia 10.9
26 scleromalacia perforans 10.9
27 respiratory failure 10.6
28 duodenal atresia 10.5
29 lung disease 10.5
30 hypoplastic left heart syndrome 10.5
31 idiopathic/heritable pulmonary arterial hypertension 10.5
32 pancreas, annular 10.4
33 pulmonary hypertension, primary, 1 10.4
34 anus, imperforate 10.4
35 atrioventricular septal defect 10.4
36 cyanosis, transient neonatal 10.4
37 omphalocele 10.4
38 anterior segment dysgenesis 10.4
39 lymphoproliferative syndrome 10.4
40 neonatal respiratory failure 10.4
41 heart septal defect 10.4
42 mitral valve stenosis 10.4
43 bronchopulmonary dysplasia 10.4
44 post-transplant lymphoproliferative disease 10.4
45 maternal uniparental disomy 10.4
46 coarctation of aorta 10.3
47 contact dermatitis 10.2
48 ventricular septal defect 10.2
49 ventricular fibrillation, paroxysmal familial, 1 10.2
50 cardiac arrest 10.2

Graphical network of the top 20 diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:



Diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Symptoms & Phenotypes for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Human phenotypes related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 58 31 very rare (1%) Very frequent (99-80%) HP:0002092
2 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
3 hypoplastic left heart 58 31 very rare (1%) Frequent (79-30%) HP:0004383
4 patent ductus arteriosus 58 31 very rare (1%) Frequent (79-30%) HP:0001643
5 intestinal malrotation 58 31 very rare (1%) Frequent (79-30%) HP:0002566
6 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
7 atrial septal defect 58 31 very rare (1%) Occasional (29-5%) HP:0001631
8 bicuspid aortic valve 58 31 very rare (1%) Occasional (29-5%) HP:0001647
9 anal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0002023
10 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
11 tetralogy of fallot 58 31 very rare (1%) Occasional (29-5%) HP:0001636
12 hydronephrosis 58 31 very rare (1%) Occasional (29-5%) HP:0000126
13 tracheoesophageal fistula 58 31 very rare (1%) Occasional (29-5%) HP:0002575
14 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
15 atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0006695
16 volvulus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002580
17 asplenia 58 31 very rare (1%) Occasional (29-5%) HP:0001746
18 single umbilical artery 58 31 very rare (1%) Occasional (29-5%) HP:0001195
19 duodenal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100867
20 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
21 annular pancreas 58 31 very rare (1%) Occasional (29-5%) HP:0001734
22 absent gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0011467
23 pulmonary valve atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010882
24 global developmental delay 31 very rare (1%) HP:0001263
25 brachycephaly 31 very rare (1%) HP:0000248
26 cleft palate 31 very rare (1%) HP:0000175
27 micrognathia 31 very rare (1%) HP:0000347
28 low-set ears 31 very rare (1%) HP:0000369
29 pulmonary artery dilatation 31 very rare (1%) HP:0004927
30 interrupted aortic arch 31 very rare (1%) HP:0011611
31 ventriculomegaly 31 very rare (1%) HP:0002119
32 arnold-chiari malformation 31 very rare (1%) HP:0002308
33 omphalocele 31 very rare (1%) HP:0001539
34 diastasis recti 31 very rare (1%) HP:0001540
35 butterfly vertebrae 31 very rare (1%) HP:0003316
36 hydroureter 31 very rare (1%) HP:0000072
37 esophageal atresia 31 very rare (1%) HP:0002032
38 duodenal atresia 31 very rare (1%) HP:0002247
39 syringomyelia 31 very rare (1%) HP:0003396
40 meckel diverticulum 31 very rare (1%) HP:0002245
41 posterior rib fusion 31 very rare (1%) HP:0000913
42 dilatation of the bladder 31 very rare (1%) HP:0010955
43 cleft lip 31 very rare (1%) HP:0410030
44 pulmonary lymphangiectasia 31 very rare (1%) HP:0006521
45 partial anomalous pulmonary venous return 31 very rare (1%) HP:0010773
46 congenital shortened small intestine 31 very rare (1%) HP:0030889
47 misalignment of the pulmonary veins 31 very rare (1%) HP:0033186
48 alveolar capillary dysplasia 31 very rare (1%) HP:0033208
49 neonatal respiratory distress 31 HP:0002643
50 polyhydramnios 31 HP:0001561

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
intestinal malrotation
duodenal atresia
meckel diverticulum

Respiratory Lung:
abnormal lung lobation

Respiratory:
pulmonary insufficiency

Cardiovascular Heart:
right-to-left shunt via the foramen ovale or ductus arteriosus or both
atrial septal defect (in some patients)

Genitourinary Bladder:
bladder dilatation

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
hydroureter

Abdomen Pancreas:
annular pancreas

Abdomen Biliary Tract:
gallbladder agenesis

Cardiovascular Vascular:
alveolar capillary dysplasia (acd)
malposition of pulmonary vein branches adjacent to pulmonary artery branches (mpv)
deficient capillarization of airspace walls
increased muscularization of arterioles
neonatal pulmonary hypertension

Clinical features from OMIM®:

265380 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Drugs for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4 Pharmaceutical Solutions Phase 4
5
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
6 Antihypertensive Agents Phase 3
7 Endothelin Receptor Antagonists Phase 3
8
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 1, Phase 2 7487-88-9 24083
9
Milrinone Approved Phase 2 78415-72-2 4197
10
Epoprostenol Approved Phase 2 35121-78-9, 61849-14-7 5282411 5280427
11
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
12
Tezosentan Investigational Phase 2 180384-57-0
13 Hormones Phase 1, Phase 2
14 Anti-Arrhythmia Agents Phase 1, Phase 2
15 Anesthetics Phase 1, Phase 2
16 Anticonvulsants Phase 1, Phase 2
17 Analgesics Phase 1, Phase 2
18 Tocolytic Agents Phase 1, Phase 2
19 calcium channel blockers Phase 1, Phase 2
20 Calcium, Dietary Phase 1, Phase 2
21 Cardiotonic Agents Phase 2
22 Phosphodiesterase 3 Inhibitors Phase 2
23 Antidepressive Agents, Tricyclic Phase 2
24
Calcium Nutraceutical Phase 1, Phase 2 7440-70-2 271
25
Carbon monoxide Approved, Investigational 630-08-0 281
26
Tadalafil Approved, Investigational 171596-29-5 110635
27 Immunoglobulins
28 Antibodies
29 Liver Extracts
30 Natriuretic Peptide, Brain

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension of Neonates Secondary to Meconium Aspiration Syndrome: A Randomized Placebo Controlled Trial Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
2 Inhaled Nitric Oxide in Neonates With Elevated A-aDO2 Gradients Not Requiring Mechanical Ventilation Completed NCT00732537 Phase 4 inhaled Nitric Oxide;Oxygen (>90% by hood) - standard therapy
3 Effect of Early iNO on Oxidative Stress, Vascular Tone and Inflammation in Term and Late-Preterm Infants With Hypoxic Respiratory Failure Withdrawn NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO
4 Early Combined Use of Inhaled Nitric Oxide and Oral Sildenafil on the Outcome of Pulmonary Hypertension in New Born Infants Unknown status NCT01558466 Phase 3 Sildenafil;diluent
5 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 Completed NCT01720524 Phase 3 placebo;iv sildenafil
6 Early Inhaled Nitric Oxide Therapy in Term and Near Term Infants With Respiratory Failure Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
7 The Randomized Inhaled Nitric Oxide Study (NINOS) in Full-Term and Nearly Full-Term Infants With Hypoxic Respiratory Failure Terminated NCT00005776 Phase 3 Inhaled nitric oxide;Placebo
8 Multicenter, Double-blind, Placebo-controlled, Randomized, Prospective Study of Bosentan as Adjunctive Therapy to Inhaled Nitric Oxide in the Management of Persistent Pulmonary Hypertension of the Newborn (PPHN) Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
9 Nebulized Magnesium Sulfate for Treatment of Persistent Pulmonary Hypertension of The Newborn Completed NCT04328636 Phase 1, Phase 2 Nebulized Magnesium Sulfate;Intravenous Magnesium Sulfate
10 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
11 Intravenous Remodulin (Treprostinil) as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn: A Randomized, Placebo-Controlled, Safety and Efficacy Study Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
12 A Single Arm Single Centre Study To Investigate Safety And Efficacy Of Sildenafil In Near Term And Term Newborns With Persistent Pulmonary Hypertension Of The Newborn (PPHN) Terminated NCT01069861 Phase 2 sildanefil
13 A Randomized, Double Blind, Placebo-controlled Pilot Study of the Safety and Effective Dosing of Inhaled Iloprost in Pediatric Patients With Pulmonary Hypertension Treated With Inhaled Nitric Oxide Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
14 An Open Label Single Arm, Single Centre Study to Investigate the Safety and Efficacy of IV Sildenafil in Neonates With Persistent Pulmonary Hypertension of the Newborn (PPHN) Withdrawn NCT01360671 Phase 2 Sildenafil
15 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
16 Examination of Perfusion Index in Term and Preterm Newborns Through Plethismography Unknown status NCT02380040
17 Compare of Continued Nitro Oxide Inhalation and Nitro Oxide Inhalation Continued With Oral Sildenafil on Treatment of Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 NO inhalation;NO inhalation continued with sildenafil
18 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
19 Antibody Secreting Cell (ASC) and Immunoactive Protein Profiles in Neonates on Extracorporeal Membrane Oxygenation (ECMO) Completed NCT00371241
20 NO Need to Ventilate: A Trial of Non-invasive iNO in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 iNO
21 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
22 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
23 A Feasibility Study to Consider the Relationship Between Markers of Red Cell Damage, Inflammation and the Recovery Process of Newborns Requiring Extracorporeal Membrane Oxygenation (ECMO) for Persistent Pulmonary Hypertension of the Newborn (PPHN): Mi-ECMO Completed NCT02940327
24 Prostaglandin G/H Synthase-1 (PTGS1) Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn (PPHN) Recruiting NCT00710177
25 Assessment of Effects of Maternal Smoking on Fetal Liver Circulation With Ultrasonography Active, not recruiting NCT04721782
26 Doppler Ultrasonographic Assessment of Fetal Internal Thoracic Artery Indexes Not yet recruiting NCT04686240
27 Population Pharmacokinetics and Dosage Individualization of Bosentan, Sildenafil and Tadalafil in Persistent Pulmonary Hypertension of the Newborn Not yet recruiting NCT04379180 Bosentan Tablets;Sildenafil Tablet;Tadalafil Tablets
28 Milrinone Pharmacokinetics and Pharmacodynamics in Newborns With Persistent Pulmonary Hypertension of the Newborn - a Pilot Study to Enable a Randomized Trial of Intervention Terminated NCT01088997 Milrinone Lactate
29 Clinical Significance of N-Terminal Pro-Brain Natriuretic Peptide Levels in Persistent Pulmonary Hypertension Terminated NCT00443859

Search NIH Clinical Center for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Tolazoline
Tolazoline Hydrochloride

Genetic Tests for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Anatomical Context for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

MalaCards organs/tissues related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

40
Heart, Lung, Pancreas, Liver, Brain, Small Intestine, Fetal Liver

Publications for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Articles related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 57 61 6
30380203 2018
2
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 6 57 61
23505205 2013
3
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. 6 61 57
19500772 2009
4
Expanding the phenotype of alveolar capillary dysplasia (ACD). 57 6
15520767 2004
5
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. 61 57
24842713 2014
6
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. 6
28469849 2017
7
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. 6
27439648 2016
8
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. 57
20425831 2010
9
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. 57
11754046 2001
10
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). 57
9475097 1998
11
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. 57
8985728 1996
12
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. 57
8283361 1994
13
Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. 57
8472585 1993
14
Familial persistent pulmonary hypertension. 57
6476881 1984
15
Congenital alveolar dysplasia of the lungs. 57
18874417 1948
16
Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing. 61
33578219 2021
17
Generation of Pulmonary Endothelial Progenitor Cells for Cell-Based Therapy Using Interspecies Mouse-Rat Chimeras. 61
33705684 2021
18
Lung-specific distant enhancer cis-regulates expression of FOXF1 and lncRNA FENDRR. 61
33739555 2021
19
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing. 61
32413891 2021
20
Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion. 61
33522073 2021
21
Histopathologic features of alveolar capillary dysplasia with misalignment of pulmonary veins with atypical clinical presentation. 61
32949727 2021
22
[Alveolar capillary dysplasia with misalignment of the pulmonary veins: a case report and literature review]. 61
32987465 2020
23
Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins. 61
31883304 2020
24
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. 61
31662342 2020
25
A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation. 61
32386508 2020
26
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 61
32036090 2020
27
Two autopsy cases of siblings with alveolar capillary dysplasia: clinical and post-mortem issues. 61
31512071 2020
28
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. 61
31686214 2019
29
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. 61
31436901 2019
30
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. 61
31199666 2019
31
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 61
31074124 2019
32
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 61
30961659 2019
33
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. 61
30084155 2018
34
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. 61
29198536 2018
35
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. 61
28405742 2017
36
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. 61
28256047 2017
37
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 61
28332379 2017
38
The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders. 61
28316463 2017
39
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. 61
27638768 2016
40
Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. 61
27145217 2016
41
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. 61
27109257 2016
42
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. 61
28725341 2016
43
[Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age]. 61
27164352 2016
44
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. 61
27071622 2016
45
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 61
26703872 2016
46
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. 61
27822317 2016
47
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis. 61
26462560 2015
48
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. 61
26085809 2015
49
[Alveolar capillary dysplasia with misalignment of pulmonary veins: a fatal cause of refractory neonatal cyanosis]. 61
25497366 2015
50
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. 61
26484320 2015

Variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

ClinVar genetic disease variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXF1 NM_001451.3(FOXF1):c.683_690GCGGCGGC[1] (p.Ala231fs) Microsatellite Pathogenic 692054 rs1597291554 GRCh37: 16:86544858-86544865
GRCh38: 16:86511252-86511259
2 FOXF1 NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) Deletion Pathogenic 800364 rs1597292524 GRCh37: 16:86546581-86546582
GRCh38: 16:86512975-86512976
3 FOXF1 NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) SNV Pathogenic 800365 rs1597291206 GRCh37: 16:86544320-86544320
GRCh38: 16:86510714-86510714
4 FOXF1 NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) SNV Pathogenic 800366 rs376766270 GRCh37: 16:86544264-86544264
GRCh38: 16:86510658-86510658
5 FOXF1 NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) Deletion Pathogenic 800367 rs1597291722 GRCh37: 16:86545040-86545047
GRCh38: 16:86511434-86511441
6 FOXF1 NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) Duplication Pathogenic 800368 rs1597291767 GRCh37: 16:86545071-86545072
GRCh38: 16:86511465-86511466
7 FOXF1 NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) SNV Pathogenic 800369 rs1597291235 GRCh37: 16:86544366-86544366
GRCh38: 16:86510760-86510760
8 FOXF1 NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) SNV Pathogenic 800370 rs1597292620 GRCh37: 16:86546690-86546690
GRCh38: 16:86513084-86513084
9 FOXF1 NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) SNV Pathogenic 800371 rs1597291255 GRCh37: 16:86544396-86544396
GRCh38: 16:86510790-86510790
10 FOXF1 NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) SNV Pathogenic 800372 rs1481006723 GRCh37: 16:86544714-86544714
GRCh38: 16:86511108-86511108
11 FOXF1 NM_001451.3(FOXF1):c.294C>A (p.His98Gln) SNV Pathogenic 800373 rs1597291300 GRCh37: 16:86544469-86544469
GRCh38: 16:86510863-86510863
12 FOXF1 NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) SNV Pathogenic 800374 rs1597291719 GRCh37: 16:86545037-86545037
GRCh38: 16:86511431-86511431
13 FOXF1 NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) SNV Pathogenic 800375 rs1597291318 GRCh37: 16:86544491-86544491
GRCh38: 16:86510885-86510885
14 FOXF1 NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) Deletion Pathogenic 800376 rs1597291710 GRCh37: 16:86545024-86545025
GRCh38: 16:86511418-86511419
15 FOXF1 NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) SNV Pathogenic 800377 rs1597291206 GRCh37: 16:86544320-86544320
GRCh38: 16:86510714-86510714
16 overlap with 22 genes GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Pathogenic 813309 GRCh37: 16:84872102-87678641
GRCh38:
17 FOXF1 NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) SNV Pathogenic 8462 rs121909336 GRCh37: 16:86544400-86544400
GRCh38: 16:86510794-86510794
18 FOXF1 NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) SNV Pathogenic 8463 rs121909337 GRCh37: 16:86546689-86546689
GRCh38: 16:86513083-86513083
19 FOXF1 FOXF1, 1-BP DUP, 775T Duplication Pathogenic 8464 GRCh37:
GRCh38:
20 FOXF1 FOXF1, 2-BP DEL, 956TT Deletion Pathogenic 8465 GRCh37:
GRCh38:
21 FOXF1 NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) Duplication Pathogenic 916530 GRCh37: 16:86546605-86546606
GRCh38: 16:86512999-86513000
22 FOXF1 NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) SNV Pathogenic 916531 GRCh37: 16:86544428-86544428
GRCh38: 16:86510822-86510822
23 FOXF1 NC_000016.9:g.86243180_87703229del Deletion Pathogenic 869495 GRCh37:
GRCh38:
24 FENDRR , FOXF1 NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) Deletion Pathogenic 973755 GRCh37: 16:86544230-86544233
GRCh38: 16:86510624-86510627
25 FOXF1 NM_001451.3(FOXF1):c.965del (p.Pro322fs) Deletion Pathogenic 975043 GRCh37: 16:86545137-86545137
GRCh38: 16:86511531-86511531
26 FOXF1 NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) SNV Pathogenic 997014 GRCh37: 16:86544477-86544477
GRCh38: 16:86510871-86510871
27 FOXF1 NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) Microsatellite Pathogenic 997015 GRCh37: 16:86544411-86544412
GRCh38: 16:86510805-86510806
28 FOXF1 NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) SNV Pathogenic 1030400 GRCh37: 16:86544843-86544843
GRCh38: 16:86511237-86511237
29 FOXF1 NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) SNV Likely pathogenic 560714 rs1567511932 GRCh37: 16:86546691-86546691
GRCh38: 16:86513085-86513085
30 overlap with 28 genes Deletion Likely pathogenic 975044 GRCh37: 16:83931797-86285776
GRCh38:
31 FOXF1 NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) SNV Likely pathogenic 975041 GRCh37: 16:86544461-86544461
GRCh38: 16:86510855-86510855
32 FOXF1 NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) SNV Likely pathogenic 975042 GRCh37: 16:86544441-86544441
GRCh38: 16:86510835-86510835
33 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) SNV Likely pathogenic 374061 rs1057518868 GRCh37: 16:86544455-86544455
GRCh38: 16:86510849-86510849
34 FOXF1 NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) SNV Likely pathogenic 869491 GRCh37: 16:86544341-86544341
GRCh38: 16:86510735-86510735
35 FOXF1 NM_001451.3(FOXF1):c.950del (p.Asn317fs) Deletion Likely pathogenic 869492 GRCh37: 16:86545124-86545124
GRCh38: 16:86511518-86511518
36 FOXF1 NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) SNV Likely pathogenic 816907 rs1597291380 GRCh37: 16:86544588-86544588
GRCh38: 16:86510982-86510982
37 FOXF1 NM_001451.3(FOXF1):c.*1176del Deletion Conflicting interpretations of pathogenicity 320830 rs397854726 GRCh37: 16:86547856-86547856
GRCh38: 16:86514250-86514250
38 FOXF1 NM_001451.3(FOXF1):c.*1298dup Duplication Uncertain significance 320835 rs886052386 GRCh37: 16:86547982-86547983
GRCh38: 16:86514376-86514377
39 FOXF1 NM_001451.3(FOXF1):c.*471_*472dup Duplication Uncertain significance 320810 rs56130003 GRCh37: 16:86547153-86547154
GRCh38: 16:86513547-86513548
40 FOXF1 NM_001451.3(FOXF1):c.*123dup Duplication Uncertain significance 320800 rs886052379 GRCh37: 16:86546810-86546811
GRCh38: 16:86513204-86513205
41 FOXF1 NM_001451.3(FOXF1):c.*309_*310insT Insertion Uncertain significance 320803 rs11392376 GRCh37: 16:86547000-86547001
GRCh38: 16:86513394-86513395
42 FOXF1 NM_001451.3(FOXF1):c.60_62del (p.Gly23del) Deletion Uncertain significance 320787 rs757668134 GRCh37: 16:86544233-86544235
GRCh38: 16:86510627-86510629
43 FOXF1 NM_001451.3(FOXF1):c.*310_*311insT Insertion Uncertain significance 320804 rs67178865 GRCh37: 16:86547001-86547002
GRCh38: 16:86513395-86513396
44 FOXF1 NM_001451.3(FOXF1):c.636G>C (p.Ser212=) SNV Uncertain significance 689448 rs776649998 GRCh37: 16:86544811-86544811
GRCh38: 16:86511205-86511205
45 FOXF1 NM_001451.3(FOXF1):c.-2C>T SNV Uncertain significance 1033844 GRCh37: 16:86544174-86544174
GRCh38: 16:86510568-86510568
46 FOXF1 NM_001451.3(FOXF1):c.969C>A (p.Ala323=) SNV Likely benign 734939 rs144309953 GRCh37: 16:86545144-86545144
GRCh38: 16:86511538-86511538
47 FOXF1 NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) Indel Likely benign 977105 GRCh37: 16:86544955-86544956
GRCh38: 16:86511349-86511350
48 FOXF1 NM_001451.3(FOXF1):c.579C>A (p.Gly193=) SNV Likely benign 977106 GRCh37: 16:86544754-86544754
GRCh38: 16:86511148-86511148
49 FOXF1 NM_001451.3(FOXF1):c.927G>T (p.Leu309=) SNV Likely benign 977493 GRCh37: 16:86545102-86545102
GRCh38: 16:86511496-86511496
50 FOXF1 NM_001451.3(FOXF1):c.36_38CGG[9] (p.Gly23dup) Microsatellite Likely benign 320786 rs574179816 GRCh37: 16:86544210-86544211
GRCh38: 16:86510604-86510605

UniProtKB/Swiss-Prot genetic disease variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

72 (show all 20)
# Symbol AA change Variation ID SNP ID
1 FOXF1 p.Pro49Gln VAR_071016
2 FOXF1 p.Pro49Ser VAR_071017
3 FOXF1 p.Ser52Phe VAR_071018
4 FOXF1 p.Tyr53Cys VAR_071019
5 FOXF1 p.Ile74Asn VAR_071020
6 FOXF1 p.Phe85Ile VAR_071021
7 FOXF1 p.Phe85Leu VAR_071022
8 FOXF1 p.Phe85Ser VAR_071023
9 FOXF1 p.Arg86Trp VAR_071024
10 FOXF1 p.Gly91Glu VAR_071025
11 FOXF1 p.Gly91Val VAR_071026
12 FOXF1 p.Val96Met VAR_071027
13 FOXF1 p.Arg97His VAR_071028
14 FOXF1 p.His98Gln VAR_071029
15 FOXF1 p.Ser101Leu VAR_071030
16 FOXF1 p.Phe106Leu VAR_071031
17 FOXF1 p.Gly119Asp VAR_071033
18 FOXF1 p.Pro126Leu VAR_071034
19 FOXF1 p.Arg139Leu VAR_071035
20 FOXF1 p.Phe77Leu VAR_076592

Copy number variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins from CNVD:

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

Expression for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Search GEO for disease gene expression data for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Pathways for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

GO Terms for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Biological processes related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 FOXF1 COL18A1
2 animal organ morphogenesis GO:0009887 8.62 FOXF1 COL18A1

Sources for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....