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 56 52 25 58 73 36 13
Alveolar Capillary Dysplasia 52 25 73 71
Acdmpv 56 25 58 73
Congenital Alveolar Capillary Dysplasia 52 25 58
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies 56 73
Familial Persistent Pulmonary Hypertension of the Newborn 52 25
Acd 25 73
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 52
Pulmonary Hypertension, Familial Persistent of the Newborn 52
Persistent Fetal Circulation Syndrome 71
Misalignment of the Pulmonary Vessels 25
Acd/mpv 25

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:

56
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:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


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

Genetics Home Reference : 25 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 dyskeratosis congenita, autosomal dominant 6 and dyskeratosis congenita. 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 lung, skin and heart, and related phenotypes are pulmonary arterial hypertension and respiratory distress

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 : 73 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 : 74 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 140)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 6 12.2
2 dyskeratosis congenita 12.1
3 alopecia-contractures-dwarfism mental retardation syndrome 12.1
4 amyloidosis, primary localized cutaneous, 3 12.0
5 hoyeraal hreidarsson syndrome 12.0
6 persistent fetal circulation syndrome 11.9
7 allergic contact dermatitis 11.8
8 melanoma, cutaneous malignant 1 11.6
9 aplastic anemia 11.6
10 alopecia-contractures-dwarfism-intellectual disability syndrome 11.5
11 corneal dystrophy, avellino type 11.4
12 cone-rod dystrophy 2 11.3
13 osteoporosis 11.3
14 dyskeratosis congenita autosomal dominant 11.3
15 dyskeratosis congenita autosomal recessive 11.3
16 acrofacial dysostosis, catania type 11.2
17 acute cholinergic dysautonomia 11.2
18 campomelic dysplasia 11.2
19 lactase deficiency, congenital 11.1
20 revesz syndrome 11.1
21 febrile seizures, familial, 4 11.1
22 retinitis pigmentosa 50 11.1
23 hereditary lymphedema 11.1
24 hereditary lymphedema i 11.1
25 frontometaphyseal dysplasia 11.1
26 scleromalacia perforans 11.1
27 pulmonary hypertension 10.8
28 respiratory failure 10.5
29 duodenal atresia 10.4
30 cardiac arrest 10.4
31 contact dermatitis 10.4
32 ventricular fibrillation, paroxysmal familial, 1 10.3
33 dermatitis 10.3
34 pancreas, annular 10.3
35 pulmonary hypertension, primary, 1 10.3
36 anus, imperforate 10.3
37 atrioventricular septal defect 10.3
38 cyanosis, transient neonatal 10.3
39 omphalocele 10.3
40 anterior segment dysgenesis 10.3
41 lymphoproliferative syndrome 10.3
42 neonatal respiratory failure 10.3
43 heart septal defect 10.3
44 lung disease 10.3
45 hypoplastic left heart syndrome 10.3
46 bronchopulmonary dysplasia 10.3
47 post-transplant lymphoproliferative disease 10.3
48 maternal uniparental disomy 10.3
49 ductal carcinoma in situ 10.2
50 in situ carcinoma 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 all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 58 31 hallmark (90%) 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 frequent (33%) Frequent (79-30%) HP:0004383
4 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
5 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
6 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
7 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
8 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
9 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
10 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
11 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
12 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
13 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
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 occasional (7.5%) Occasional (29-5%) HP:0001746
18 single umbilical artery 58 31 occasional (7.5%) 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 occasional (7.5%) 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 hypertension 31 HP:0000822
25 polyhydramnios 31 HP:0001561
26 hydroureter 31 HP:0000072
27 abnormal lung lobation 31 HP:0002101
28 duodenal atresia 31 HP:0002247
29 meckel diverticulum 31 HP:0002245
30 pulmonary insufficiency 31 HP:0010444
31 abnormality of the pulmonary veins 31 HP:0011718
32 right-to-left shunt 31 HP:0001694

Symptoms via clinical synopsis from OMIM:

56
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

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4 Phosphodiesterase 5 Inhibitors Phase 4
5 Pharmaceutical Solutions Phase 4
6
Sodium citrate Approved, Investigational Phase 3 68-04-2
7
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
9 Citrate Phase 3
10 Sildenafil Citrate Phase 3 171599-83-0
11 Antihypertensive Agents Phase 3
12 Endothelin Receptor Antagonists Phase 3
13
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 1, Phase 2 7487-88-9 24083
14
Milrinone Approved Phase 2 78415-72-2 4197
15
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
16
Epoprostenol Approved Phase 2 35121-78-9, 61849-14-7 5282411 5280427
17 Tezosentan Investigational Phase 2 180384-57-0
18 Anesthetics Phase 1, Phase 2
19 Anti-Arrhythmia Agents Phase 1, Phase 2
20 Tocolytic Agents Phase 1, Phase 2
21 Analgesics Phase 1, Phase 2
22 Anticonvulsants Phase 1, Phase 2
23 Calcium, Dietary Phase 1, Phase 2
24 calcium channel blockers Phase 1, Phase 2
25 Phosphodiesterase Inhibitors Phase 2
26 Cardiotonic Agents Phase 2
27 Phosphodiesterase 3 Inhibitors Phase 2
28 Antidepressive Agents, Tricyclic Phase 2
29
Calcium Nutraceutical Phase 1, Phase 2 7440-70-2 271
30
Tadalafil Approved, Investigational 171596-29-5 110635
31 Antibodies
32 Immunoglobulins
33 Hormones
34 Natriuretic Peptide, Brain

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns: 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 Active, not recruiting NCT01720524 Phase 3 placebo;iv sildenafil
6 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
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 Early Inhaled Nitric Oxide Therapy in Term and Near Term Infants With Respiratory Failure Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
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 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
11 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
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 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
14 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
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 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
20 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
21 Antibody Secreting Cell (ASC) and Immunoactive Protein Profiles in Neonates on Extracorporeal Membrane Oxygenation (ECMO) Completed NCT00371241
22 NO Need to Ventilate: A Trial of Non-invasive iNO in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 iNO
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 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
26 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
27 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 71 / NDF-RT 50 :


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

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 65)
# Title Authors PMID Year
1
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. 61 6 56
19500772 2009
2
Expanding the phenotype of alveolar capillary dysplasia (ACD). 6 56
15520767 2004
3
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 61 56
30380203 2018
4
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. 56 61
24842713 2014
5
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 61 56
23505205 2013
6
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. 56
20425831 2010
7
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. 56
11754046 2001
8
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). 56
9475097 1998
9
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. 56
8985728 1996
10
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. 56
8283361 1994
11
Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. 56
8472585 1993
12
Familial persistent pulmonary hypertension. 56
6476881 1984
13
Congenital alveolar dysplasia of the lungs. 56
18874417 1948
14
Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins. 61
31883304 2020
15
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing. 61
32413891 2020
16
A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation. 61
32386508 2020
17
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. 61
31662342 2020
18
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
19
Two autopsy cases of siblings with alveolar capillary dysplasia: clinical and post-mortem issues. 61
31512071 2020
20
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. 61
31686214 2019
21
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
22
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. 61
31199666 2019
23
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
24
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 61
30961659 2019
25
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. 61
30084155 2018
26
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. 61
29198536 2018
27
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. 61
28405742 2017
28
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. 61
28256047 2017
29
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 61
28332379 2017
30
The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders. 61
28316463 2017
31
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. 61
27638768 2016
32
Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. 61
27145217 2016
33
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. 61
27109257 2016
34
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. 61
28725341 2016
35
[Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age]. 61
27164352 2016
36
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. 61
27071622 2016
37
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 61
26703872 2016
38
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. 61
27822317 2016
39
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis. 61
26462560 2015
40
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. 61
26085809 2015
41
[Alveolar capillary dysplasia with misalignment of pulmonary veins: a fatal cause of refractory neonatal cyanosis]. 61
25497366 2015
42
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. 61
26484320 2015
43
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. 61
25052575 2015
44
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. 61
25472632 2014
45
Hereditary interstitial lung diseases manifesting in early childhood in Japan. 61
25105258 2014
46
FOXF1 transcription factor is required for formation of embryonic vasculature by regulating VEGF signaling in endothelial cells. 61
25091710 2014
47
Rapidly fatal "congenital lung dysplasia": a case report and review of the literature. 61
24467188 2014
48
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. 61
24722050 2014
49
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. 61
23943206 2013
50
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. 61
24147432 2013

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 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXF1 NM_001451.3(FOXF1):c.683_690GCGGCGGC[1] (p.Ala231fs)short repeat Pathogenic 692054 16:86544858-86544865 16:86511252-86511259
2 FOXF1 NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter)SNV Pathogenic 800366 16:86544264-86544264 16:86510658-86510658
3 FOXF1 NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala)SNV Pathogenic 800377 16:86544320-86544320 16:86510714-86510714
4 FOXF1 NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)SNV Pathogenic 800365 16:86544320-86544320 16:86510714-86510714
5 FOXF1 NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter)SNV Pathogenic 800369 16:86544366-86544366 16:86510760-86510760
6 FOXF1 NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn)SNV Pathogenic 800371 16:86544396-86544396 16:86510790-86510790
7 FOXF1 NM_001451.3(FOXF1):c.294C>A (p.His98Gln)SNV Pathogenic 800373 16:86544469-86544469 16:86510863-86510863
8 FOXF1 NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)SNV Pathogenic 800375 16:86544491-86544491 16:86510885-86510885
9 FOXF1 NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter)SNV Pathogenic 800372 16:86544714-86544714 16:86511108-86511108
10 FOXF1 NM_001451.3(FOXF1):c.849_850del (p.Ile285fs)deletion Pathogenic 800376 16:86545024-86545025 16:86511418-86511419
11 FOXF1 NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter)SNV Pathogenic 800374 16:86545037-86545037 16:86511431-86511431
12 FOXF1 NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer)deletion Pathogenic 800367 16:86545040-86545047 16:86511434-86511441
13 FOXF1 NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs)duplication Pathogenic 800368 16:86545071-86545072 16:86511465-86511466
14 FOXF1 NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs)deletion Pathogenic 800364 16:86546581-86546582 16:86512975-86512976
15 FOXF1 NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser)SNV Pathogenic 800370 16:86546690-86546690 16:86513084-86513084
16 subset of 22 genes: FOXC2 , FOXF1 GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)copy number loss Pathogenic 813309 16:84872102-87678641
17 FOXF1 NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs)duplication Pathogenic 916530 16:86546605-86546606 16:86512999-86513000
18 FOXF1 NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu)SNV Pathogenic 916531 16:86544428-86544428 16:86510822-86510822
19 FOXF1 NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)SNV Pathogenic 8462 rs121909336 16:86544400-86544400 16:86510794-86510794
20 FOXF1 NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg)SNV Pathogenic 8463 rs121909337 16:86546689-86546689 16:86513083-86513083
21 FOXF1 FOXF1, 1-BP DUP, 775Tduplication Pathogenic 8464
22 FOXF1 FOXF1, 2-BP DEL, 956TTdeletion Pathogenic 8465
23 46;XY;t(9;16)(p24;q22)dnTranslocation Pathogenic 267798
24 FOXF1 NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)SNV Likely pathogenic 560714 rs1567511932 16:86546691-86546691 16:86513085-86513085
25 FOXF1 NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)SNV Likely pathogenic 816907 16:86544588-86544588 16:86510982-86510982
26 FOXF1 NM_001451.3(FOXF1):c.*1176deldeletion Conflicting interpretations of pathogenicity 320830 rs397854726 16:86547856-86547856 16:86514250-86514250
27 FOXF1 NM_001451.3(FOXF1):c.*310_*311insTinsertion Uncertain significance 320804 rs67178865 16:86547001-86547002 16:86513395-86513396
28 FOXF1 NM_001451.3(FOXF1):c.*1137A>GSNV Uncertain significance 320828 rs886052383 16:86547828-86547828 16:86514222-86514222
29 FOXF1 NM_001451.3(FOXF1):c.-4C>TSNV Uncertain significance 320785 rs752749806 16:86544172-86544172 16:86510566-86510566
30 FOXF1 NM_001451.3(FOXF1):c.*471_*472dupduplication Uncertain significance 320810 rs56130003 16:86547153-86547154 16:86513547-86513548
31 FOXF1 NM_001451.3(FOXF1):c.*909G>ASNV Uncertain significance 320825 rs561764653 16:86547600-86547600 16:86513994-86513994
32 FOXF1 NM_001451.3(FOXF1):c.*1095C>ASNV Uncertain significance 320826 rs377544296 16:86547786-86547786 16:86514180-86514180
33 FOXF1 NM_001451.3(FOXF1):c.*1182T>GSNV Uncertain significance 320832 rs886052385 16:86547873-86547873 16:86514267-86514267
34 FOXF1 NM_001451.3(FOXF1):c.*1298dupduplication Uncertain significance 320835 rs886052386 16:86547982-86547983 16:86514376-86514377
35 FOXF1 NM_001451.3(FOXF1):c.60_62del (p.Gly23del)deletion Uncertain significance 320787 rs757668134 16:86544233-86544235 16:86510627-86510629
36 FOXF1 NM_001451.3(FOXF1):c.1081G>A (p.Gly361Arg)SNV Uncertain significance 320794 rs886052377 16:86546632-86546632 16:86513026-86513026
37 FOXF1 NM_001451.3(FOXF1):c.*123dupduplication Uncertain significance 320800 rs886052379 16:86546810-86546811 16:86513204-86513205
38 FOXF1 NM_001451.3(FOXF1):c.*309_*310insTinsertion Uncertain significance 320803 rs11392376 16:86547000-86547001 16:86513394-86513395
39 FOXF1 NM_001451.3(FOXF1):c.636G>C (p.Ser212=)SNV Uncertain significance 689448 rs776649998 16:86544811-86544811 16:86511205-86511205
40 FOXF1 NM_001451.3(FOXF1):c.*16C>TSNV Uncertain significance 320795 rs754401391 16:86546707-86546707 16:86513101-86513101
41 FOXF1 NM_001451.3(FOXF1):c.*71C>ASNV Uncertain significance 320798 rs886052378 16:86546762-86546762 16:86513156-86513156
42 FOXF1 NM_001451.3(FOXF1):c.*260T>CSNV Uncertain significance 320802 rs886052380 16:86546951-86546951 16:86513345-86513345
43 FOXF1 NM_001451.3(FOXF1):c.*646G>TSNV Uncertain significance 320817 rs781403145 16:86547337-86547337 16:86513731-86513731
44 FOXF1 NM_001451.3(FOXF1):c.*682G>ASNV Uncertain significance 320819 rs886052382 16:86547373-86547373 16:86513767-86513767
45 FOXF1 NM_001451.3(FOXF1):c.*724C>TSNV Likely benign 320820 rs191354117 16:86547415-86547415 16:86513809-86513809
46 FOXF1 NM_001451.3(FOXF1):c.*754T>CSNV Likely benign 320821 rs142129039 16:86547445-86547445 16:86513839-86513839
47 FOXF1 NM_001451.3(FOXF1):c.*370G>ASNV Likely benign 320807 rs527370416 16:86547061-86547061 16:86513455-86513455
48 FOXF1 NM_001451.3(FOXF1):c.*98A>GSNV Likely benign 320799 rs80321560 16:86546789-86546789 16:86513183-86513183
49 FOXF1 NM_001451.3(FOXF1):c.980-10C>TSNV Likely benign 320793 rs368414616 16:86546521-86546521 16:86512915-86512915
50 FOXF1 NM_001451.3(FOXF1):c.*631C>TSNV Likely benign 320815 rs147615917 16:86547322-86547322 16:86513716-86513716

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

73 (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 9.16 FOXF1 COL18A1
2 positive regulation of cell migration GO:0030335 8.96 FOXF1 COL18A1
3 animal organ morphogenesis GO:0009887 8.62 FOXF1 COL18A1

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

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