ACDMPV
MCID: ALV007
MIFTS: 46

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 25 59 74 37 13
Acdmpv 57 25 59 74
Alveolar Capillary Dysplasia 25 74 72
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies 57 74
Congenital Alveolar Capillary Dysplasia 25 59
Acd 25 74
Dysplasia, Capillary, Alveolar, with Misalignment of Pulmonary Veins 40
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 59
Familial Persistent Pulmonary Hypertension of the Newborn 25
Persistent Fetal Circulation Syndrome 72
Misalignment of the Pulmonary Vessels 25
Acd/mpv 25

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
alveolar capillary dysplasia with misalignment of pulmonary veins:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 265380
KEGG 37 H00830
MeSH 44 D010547
UMLS via Orphanet 73 C2677362
Orphanet 59 ORPHA210122
MedGen 42 C0031190
UMLS 72 C0031190 C2677362

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 acdmpv, is related to alveolar capillary dysplasia and dyskeratosis congenita, autosomal dominant 6. An important gene associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins is FOXF1 (Forkhead Box F1). The drugs Nitric Oxide and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and skin, and related phenotypes are pulmonary arterial hypertension and respiratory distress

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)

KEGG : 37
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 : 74 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.

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 123)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia 31.2 LINC01081 FOXF1 COL18A1
2 dyskeratosis congenita, autosomal dominant 6 12.3
3 dyskeratosis congenita 12.2
4 alopecia-contractures-dwarfism mental retardation syndrome 12.1
5 amyloidosis, primary localized cutaneous, 3 12.0
6 alopecia-contractures-dwarfism-intellectual disability syndrome 12.0
7 persistent fetal circulation syndrome 11.8
8 allergic contact dermatitis 11.8
9 hoyeraal hreidarsson syndrome 11.7
10 melanoma, cutaneous malignant 1 11.5
11 dyskeratosis congenita autosomal dominant 11.4
12 dyskeratosis congenita autosomal recessive 11.4
13 corneal dystrophy, avellino type 11.4
14 corneal dystrophy, reis-bucklers type 11.3
15 corneal dystrophy, congenital stromal 11.3
16 drug-induced lupus erythematosus 11.3
17 hereditary lymphedema 11.3
18 hereditary lymphedema i 11.3
19 acrofacial dysostosis, catania type 11.2
20 acute cholinergic dysautonomia 11.2
21 campomelic dysplasia 11.2
22 pulmonary hypertension 10.8
23 respiratory failure 10.5
24 duodenal atresia 10.4
25 cardiac arrest 10.4
26 contact dermatitis 10.4
27 ventricular fibrillation, paroxysmal familial, 1 10.3
28 pancreas, annular 10.3
29 pulmonary hypertension, primary, 1 10.3
30 anus, imperforate 10.3
31 atrioventricular septal defect 10.3
32 cyanosis, transient neonatal 10.3
33 omphalocele 10.3
34 anterior segment dysgenesis 10.3
35 neonatal respiratory failure 10.3
36 heart septal defect 10.3
37 lung disease 10.3
38 hypoplastic left heart syndrome 10.3
39 bronchopulmonary dysplasia 10.3
40 maternal uniparental disomy 10.3
41 ductal carcinoma in situ 10.3
42 dermatitis 10.3
43 in situ carcinoma 10.3
44 hydronephrosis 10.2
45 alopecia 10.2
46 heart disease 10.2
47 ventricular septal defect 10.2
48 aortic coarctation 10.2
49 breast cancer 10.1
50 renal cell carcinoma, nonpapillary 10.1

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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002092
2 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
3 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
4 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
5 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
6 abnormal vertebral morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0003468
7 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
8 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
9 bicuspid aortic valve 59 32 occasional (7.5%) Occasional (29-5%) HP:0001647
10 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
11 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
12 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
13 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
14 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
15 asplenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001746
16 atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0006695
17 volvulus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002580
18 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
19 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
20 annular pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001734
21 duodenal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100867
22 absent gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0011467
23 pulmonary valve atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010882
24 hypertension 32 HP:0000822
25 polyhydramnios 32 HP:0001561
26 hydroureter 32 HP:0000072
27 abnormal lung lobation 32 HP:0002101
28 duodenal atresia 32 HP:0002247
29 meckel diverticulum 32 HP:0002245
30 abnormality of the pulmonary veins 32 HP:0011718
31 pulmonary insufficiency 32 HP:0010444
32 right-to-left shunt 32 HP:0001694

Symptoms via clinical synopsis from OMIM:

57
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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5 Neurotransmitter Agents Phase 4
6 Respiratory System Agents Phase 4
7 Free Radical Scavengers Phase 4
8 Antioxidants Phase 4
9 Protective Agents Phase 4
10 Autonomic Agents Phase 4
11 Endothelium-Dependent Relaxing Factors Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Vasodilator Agents Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Bronchodilator Agents Phase 4
16 Pharmaceutical Solutions Phase 4
17 Mitogens Phase 4
18 Endothelial Growth Factors Phase 4
19
Sodium citrate Approved, Investigational Phase 3 68-04-2
20
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
21
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
22 Sildenafil Citrate Phase 3 171599-83-0
23 Citrate Phase 3
24 Phosphodiesterase 5 Inhibitors Phase 3
25 Antihypertensive Agents Phase 3
26 Endothelin Receptor Antagonists Phase 3
27
Milrinone Approved Phase 2 78415-72-2 4197
28
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
29 Tezosentan Investigational Phase 2 180384-57-0
30 Cardiotonic Agents Phase 2
31 Phosphodiesterase Inhibitors Phase 2
32 Phosphodiesterase 3 Inhibitors Phase 2
33 Antidepressive Agents, Tricyclic Phase 2
34 Antibodies
35 Immunologic Factors
36 Immunoglobulins
37 Natriuretic Agents
38 Natriuretic Peptide, Brain
39 Hormones

Interventional clinical trials:

(show all 26)
# 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 Recruiting 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 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
10 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
11 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
12 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
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 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
15 Examination of Perfusion Index in Term and Preterm Newborns Through Plethismography Unknown status NCT02380040
16 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
17 A Follow Up Investigation For Patients Completing Study A1481276 To Investigate Developmental Progress 12 And 24 Months Following Completion Of Sildenafil Treatment Completed NCT01801982
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 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
26 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 72 / 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:

41
Lung, Heart, Skin, 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 59)
# 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. 38 8 71
19500772 2009
2
Expanding the phenotype of alveolar capillary dysplasia (ACD). 8 71
15520767 2004
3
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. 38 8
24842713 2014
4
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 38 8
23505205 2013
5
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. 8
20425831 2010
6
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. 8
11754046 2001
7
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). 8
9475097 1998
8
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. 8
8985728 1996
9
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. 8
8283361 1994
10
Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. 8
8472585 1993
11
Familial persistent pulmonary hypertension. 8
6476881 1984
12
Congenital alveolar dysplasia of the lungs. 8
18874417 1948
13
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. 38
31436901 2019
14
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 38
31074124 2019
15
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. 38
31199666 2019
16
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. 38
31189067 2019
17
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 38
30961659 2019
18
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. 38
30084155 2018
19
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 38
30380203 2018
20
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. 38
29198536 2018
21
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. 38
28405742 2017
22
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. 38
28256047 2017
23
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 38
28332379 2017
24
The Role of Serotonin Transporter in Human Lung Development and in Neonatal Lung Disorders. 38
28316463 2017
25
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. 38
27638768 2016
26
Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. 38
27145217 2016
27
Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report. 38
28725341 2016
28
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. 38
27109257 2016
29
[Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age]. 38
27164352 2016
30
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. 38
27071622 2016
31
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. 38
26703872 2016
32
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. 38
27822317 2016
33
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis. 38
26462560 2015
34
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. 38
26085809 2015
35
[Alveolar capillary dysplasia with misalignment of pulmonary veins: a fatal cause of refractory neonatal cyanosis]. 38
25497366 2015
36
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. 38
25052575 2015
37
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. 38
26484320 2015
38
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. 38
25472632 2014
39
Hereditary interstitial lung diseases manifesting in early childhood in Japan. 38
25105258 2014
40
FOXF1 transcription factor is required for formation of embryonic vasculature by regulating VEGF signaling in endothelial cells. 38
25091710 2014
41
Rapidly fatal "congenital lung dysplasia": a case report and review of the literature. 38
24467188 2014
42
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. 38
24722050 2014
43
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. 38
23943206 2013
44
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. 38
24147432 2013
45
Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis. 38
23624968 2013
46
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. 38
23444129 2013
47
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. 38
22990143 2013
48
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. 38
24829819 2013
49
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. 38
23407133 2013
50
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. 38
23034409 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 58)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXF1 NM_001451.3(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 16:86544400-86544400 16:86510794-86510794
2 FOXF1 NM_001451.3(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 16:86546689-86546689 16:86513083-86513083
3 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
4 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic
5 46;XY;t(9;16)(p24;q22)dn Translocation Pathogenic
6 FOXF1 NM_001451.3(FOXF1): c.1140A> C (p.Ter380Cys) single nucleotide variant Likely pathogenic 16:86546691-86546691 16:86513085-86513085
7 FOXF1 NM_001451.3(FOXF1): c.*1176del deletion Conflicting interpretations of pathogenicity rs397854726 16:86547867-86547867 16:86514261-86514261
8 FOXF1 NM_001451.3(FOXF1): c.*1137A> G single nucleotide variant Uncertain significance rs886052383 16:86547828-86547828 16:86514222-86514222
9 FOXF1 NM_001451.3(FOXF1): c.-4C> T single nucleotide variant Uncertain significance rs752749806 16:86544172-86544172 16:86510566-86510566
10 FOXF1 NM_001451.3(FOXF1): c.*310_*311insT insertion Uncertain significance rs67178865 16:86547001-86547002 16:86513395-86513396
11 FOXF1 NM_001451.3(FOXF1): c.*471_*472dup duplication Uncertain significance rs56130003 16:86547162-86547163 16:86513556-86513557
12 FOXF1 NM_001451.3(FOXF1): c.*1298dup duplication Uncertain significance rs886052386 16:86547989-86547989 16:86514383-86514383
13 FOXF1 NM_001451.3(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 16:86547337-86547337 16:86513731-86513731
14 FOXF1 NM_001451.3(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 16:86547373-86547373 16:86513767-86513767
15 FOXF1 NM_001451.3(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 16:86546707-86546707 16:86513101-86513101
16 FOXF1 NM_001451.3(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 16:86546762-86546762 16:86513156-86513156
17 FOXF1 NM_001451.3(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 16:86546951-86546951 16:86513345-86513345
18 FOXF1 NM_001451.3(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 16:86547600-86547600 16:86513994-86513994
19 FOXF1 NM_001451.3(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 16:86547786-86547786 16:86514180-86514180
20 FOXF1 NM_001451.3(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 16:86547873-86547873 16:86514267-86514267
21 FOXF1 NM_001451.3(FOXF1): c.60_62del (p.Gly23del) deletion Uncertain significance rs757668134 16:86544235-86544237 16:86510629-86510631
22 FOXF1 NM_001451.3(FOXF1): c.1081G> A (p.Gly361Arg) single nucleotide variant Uncertain significance rs886052377 16:86546632-86546632 16:86513026-86513026
23 FOXF1 NM_001451.3(FOXF1): c.*123dup duplication Uncertain significance rs886052379 16:86546814-86546814 16:86513208-86513208
24 FOXF1 NM_001451.3(FOXF1): c.*309_*310insT insertion Uncertain significance rs11392376 16:86547000-86547001 16:86513394-86513395
25 FOXF1 NM_001451.3(FOXF1): c.*591G> T single nucleotide variant Likely benign rs75593355 16:86547282-86547282 16:86513676-86513676
26 FOXF1 NM_001451.3(FOXF1): c.*632G> A single nucleotide variant Likely benign rs186301477 16:86547323-86547323 16:86513717-86513717
27 FOXF1 NM_001451.3(FOXF1): c.*98A> G single nucleotide variant Likely benign rs80321560 16:86546789-86546789 16:86513183-86513183
28 FOXF1 NM_001451.3(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 16:86544260-86544260 16:86510654-86510654
29 FOXF1 NM_001451.3(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 16:86547907-86547907 16:86514301-86514301
30 FOXF1 NM_001451.3(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 16:86547061-86547061 16:86513455-86513455
31 FOXF1 NM_001451.3(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 16:86547415-86547415 16:86513809-86513809
32 FOXF1 NM_001451.3(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 16:86547445-86547445 16:86513839-86513839
33 FOXF1 NM_001451.3(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 16:86547322-86547322 16:86513716-86513716
34 FOXF1 NM_001451.3(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 16:86545083-86545083 16:86511477-86511477
35 FOXF1 NM_001451.3(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 16:86546521-86546521 16:86512915-86512915
36 FOXF1 NM_001451.3(FOXF1): c.*493G> A single nucleotide variant Likely benign rs75324685 16:86547184-86547184 16:86513578-86513578
37 FOXF1 NM_001451.3(FOXF1): c.*571C> T single nucleotide variant Likely benign rs145102947 16:86547262-86547262 16:86513656-86513656
38 FOXF1 NM_001451.3(FOXF1): c.476A> G (p.Asn159Ser) single nucleotide variant Likely benign rs117800841 16:86544651-86544651 16:86511045-86511045
39 FOXF1 NM_001451.3(FOXF1): c.*1212G> A single nucleotide variant Likely benign rs111967633 16:86547903-86547903 16:86514297-86514297
40 FOXF1 NM_001451.3(FOXF1): c.36_38CGG[9] (p.Gly23dup) short repeat Likely benign rs574179816 16:86544232-86544234 16:86510626-86510628
41 FOXF1 NM_001451.3(FOXF1): c.*56C> T single nucleotide variant Likely benign rs558260073 16:86546747-86546747 16:86513141-86513141
42 FOXF1 NM_001451.3(FOXF1): c.*57G> A single nucleotide variant Likely benign rs145532148 16:86546748-86546748 16:86513142-86513142
43 FOXF1 NM_001451.3(FOXF1): c.*873G> A single nucleotide variant Likely benign rs373088750 16:86547564-86547564 16:86513958-86513958
44 FOXF1 NM_001451.3(FOXF1): c.*1095C> T single nucleotide variant Likely benign rs377544296 16:86547786-86547786 16:86514180-86514180
45 FOXF1 NM_001451.3(FOXF1): c.*1147T> C single nucleotide variant Likely benign rs77088019 16:86547838-86547838 16:86514232-86514232
46 FOXF1 NM_001451.3(FOXF1): c.*467_*468insA insertion Likely benign rs201645265 16:86547158-86547159 16:86513552-86513553
47 FOXF1 NM_001451.3(FOXF1): c.*664A> G single nucleotide variant Benign rs1064259 16:86547355-86547355 16:86513749-86513749
48 FOXF1 NM_001451.3(FOXF1): c.*310C> T single nucleotide variant Benign rs56404456 16:86547001-86547001 16:86513395-86513395
49 FOXF1 NM_001451.3(FOXF1): c.*345del deletion Benign rs142100825 16:86547036-86547036 16:86513430-86513430
50 FOXF1 NM_001451.3(FOXF1): c.*855C> T single nucleotide variant Benign rs182779285 16:86547546-86547546 16:86513940-86513940

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

74 (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

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 positive regulation of cell migration GO:0030335 9.16 FOXF1 COL18A1
2 extracellular matrix organization GO:0030198 8.96 FOXF1 COL18A1
3 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....