ACDMPV
MCID: ALV007
MIFTS: 47

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 58 26 60 76 38 13
Acdmpv 58 26 60 76
Alveolar Capillary Dysplasia 26 76 74
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies 58 76
Congenital Alveolar Capillary Dysplasia 26 60
Acd 26 76
Dysplasia, Capillary, Alveolar, with Misalignment of Pulmonary Veins 41
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 60
Familial Persistent Pulmonary Hypertension of the Newborn 26
Persistent Fetal Circulation Syndrome 74
Misalignment of the Pulmonary Vessels 26
Acd/mpv 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

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


HPO:

33
alveolar capillary dysplasia with misalignment of pulmonary veins:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


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

UniProtKB/Swiss-Prot : 76 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.

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 Sodium Citrate and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and pancreas, and related phenotypes are pulmonary arterial hypertension and respiratory distress

Genetics Home Reference : 26 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.

OMIM : 58 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)

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 67)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia 31.8 COL18A1 FOXF1 LINC01081
2 dyskeratosis congenita, autosomal dominant 6 12.2
3 alopecia-contractures-dwarfism mental retardation syndrome 11.9
4 alopecia-contractures-dwarfism-intellectual disability syndrome 11.9
5 amyloidosis, primary localized cutaneous, 3 11.9
6 dyskeratosis congenita 11.9
7 persistent fetal circulation syndrome 11.7
8 allergic contact dermatitis 11.4
9 melanoma, cutaneous malignant 1 11.4
10 dyskeratosis congenita autosomal dominant 11.3
11 dyskeratosis congenita autosomal recessive 11.3
12 corneal dystrophy, avellino type 11.2
13 corneal dystrophy, reis-bucklers type 11.2
14 corneal dystrophy, congenital stromal 11.2
15 hereditary lymphedema i 11.2
16 acrofacial dysostosis, catania type 11.1
17 campomelic dysplasia 11.1
18 pulmonary hypertension 10.5
19 pancreas, annular 10.3
20 hypoplastic left heart syndrome 1 10.3
21 hypoplastic left heart syndrome 10.3
22 acute cholinergic dysautonomia 10.3
23 anterior segment dysgenesis 10.3
24 dermatitis 10.3
25 contact dermatitis 10.3
26 heart disease 10.2
27 duodenal atresia 10.2
28 aortic coarctation 10.2
29 cardiac arrest 10.2
30 down syndrome 10.1
31 chromosomal triplication 10.1
32 aplasia cutis congenita, nonsyndromic 10.1
33 leukemia 10.1
34 fryns microphthalmia syndrome 9.9
35 microphthalmia, syndromic 9 9.9
36 atrioventricular septal defect 9.9
37 omphalocele 9.9
38 microphthalmia 9.9
39 neonatal respiratory failure 9.9
40 respiratory failure 9.9
41 ventricular septal defect 9.9
42 pneumothorax 9.9
43 gastric dilatation 9.9
44 lung disease 9.9
45 atresia of urethra 9.9
46 breast cancer 9.9
47 renal cell carcinoma, nonpapillary 9.9
48 rheumatoid arthritis 9.9
49 small cell cancer of the lung 9.9
50 glucocorticoid deficiency 1 9.9

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:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002092
2 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
3 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
4 hypoplastic left heart 60 33 frequent (33%) Frequent (79-30%) HP:0004383
5 intestinal malrotation 60 33 frequent (33%) Frequent (79-30%) HP:0002566
6 abnormal vertebral morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0003468
7 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
8 bicuspid aortic valve 60 33 occasional (7.5%) Occasional (29-5%) HP:0001647
9 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
10 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
11 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
12 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
13 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
14 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
15 asplenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001746
16 atrioventricular canal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0006695
17 volvulus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002580
18 aortic valve stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001650
19 single umbilical artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0001195
20 annular pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001734
21 duodenal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100867
22 absent gallbladder 60 33 occasional (7.5%) Occasional (29-5%) HP:0011467
23 pulmonary valve atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010882
24 hypertension 33 HP:0000822
25 polyhydramnios 33 HP:0001561
26 hydroureter 33 HP:0000072
27 abnormal lung lobation 33 HP:0002101
28 duodenal atresia 33 HP:0002247
29 meckel diverticulum 33 HP:0002245
30 abnormality of the pulmonary veins 33 HP:0011718
31 pulmonary insufficiency 33 HP:0010444
32 right-to-left shunt 33 HP:0001694

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis

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

Abdomen Gastrointestinal:
intestinal malrotation
duodenal atresia
meckel diverticulum

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 top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 68-04-2
2
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068
3
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
4
tannic acid Approved Phase 4,Phase 3 1401-55-4
5
Adenosine Approved, Investigational Phase 4 58-61-7 60961
6
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
7
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 77-92-9 311
8 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 171599-83-0
10 Pharmaceutical Solutions Phase 4,Phase 3
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Free Radical Scavengers Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
19 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
22 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Endothelial Growth Factors Phase 4
25 Mitogens Phase 4
26 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
27
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
28
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
29 Hormone Antagonists Phase 3,Phase 2
30 Hormones Phase 3,Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
32 Estrogen Receptor Antagonists Phase 3
33 11-hydroxyprogesterone Phase 3
34 Progestins Phase 3
35 Caproate Phase 3
36 Estrogens Phase 3
37 17 alpha-Hydroxyprogesterone Caproate Phase 3
38 Estrogen Antagonists Phase 3
39 Antihypertensive Agents Phase 3,Phase 2
40 Endothelin Receptor Antagonists Phase 3
41
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
42
Darbepoetin alfa Approved, Investigational Phase 1, Phase 2 209810-58-2, 11096-26-7
43
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
44
Milrinone Approved Phase 2,Not Applicable 78415-72-2 4197
45 Tezosentan Investigational Phase 2 180384-57-0
46 Betamethasone sodium phosphate Phase 2
47 glucocorticoids Phase 2
48 Betamethasone Valerate Phase 2 2152-44-5
49 Betamethasone-17,21-dipropionate Phase 2
50 Betamethasone benzoate Phase 2

Interventional clinical trials:

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

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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:

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

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

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

(show all 19)
# Title Authors Year
1
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. ( 30380203 )
2018
2
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. ( 30084155 )
2018
3
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
4
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 26703872 )
2016
5
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
6
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
7
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. ( 27822317 )
2016
8
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
2015
9
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
10
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
11
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 24842713 )
2014
12
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
2013
13
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
14
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23444129 )
2013
15
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
16
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
17
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
2013
18
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. ( 11178633 )
2001
19
Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature. ( 11536028 )
2001

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

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

76 (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

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

6 (show top 50) (show all 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh37 Chromosome 16, 86544400: 86544400
2 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh38 Chromosome 16, 86510794: 86510794
3 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh37 Chromosome 16, 86546689: 86546689
4 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh38 Chromosome 16, 86513083: 86513083
5 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
6 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic
7 FOXF1 NM_001451.2(FOXF1): c.873C> T (p.Ser291=) single nucleotide variant Benign rs61753347 GRCh37 Chromosome 16, 86545048: 86545048
8 FOXF1 NM_001451.2(FOXF1): c.873C> T (p.Ser291=) single nucleotide variant Benign rs61753347 GRCh38 Chromosome 16, 86511442: 86511442
9 46;XY;t(9;16)(p24;q22)dn Translocation Pathogenic
10 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh38 Chromosome 16, 86511477: 86511477
11 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh37 Chromosome 16, 86545083: 86545083
12 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh38 Chromosome 16, 86512915: 86512915
13 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh37 Chromosome 16, 86546521: 86546521
14 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh38 Chromosome 16, 86513101: 86513101
15 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh37 Chromosome 16, 86546707: 86546707
16 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh38 Chromosome 16, 86513156: 86513156
17 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh37 Chromosome 16, 86546762: 86546762
18 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh37 Chromosome 16, 86546951: 86546951
19 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh38 Chromosome 16, 86513345: 86513345
20 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh37 Chromosome 16, 86547061: 86547061
21 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh38 Chromosome 16, 86513455: 86513455
22 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh38 Chromosome 16, 86513457: 86513457
23 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh37 Chromosome 16, 86547063: 86547063
24 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh38 Chromosome 16, 86513716: 86513716
25 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh37 Chromosome 16, 86547322: 86547322
26 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh38 Chromosome 16, 86513731: 86513731
27 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh37 Chromosome 16, 86547337: 86547337
28 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh38 Chromosome 16, 86513767: 86513767
29 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh37 Chromosome 16, 86547373: 86547373
30 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh38 Chromosome 16, 86513809: 86513809
31 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh37 Chromosome 16, 86547415: 86547415
32 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh38 Chromosome 16, 86513839: 86513839
33 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh37 Chromosome 16, 86547445: 86547445
34 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh38 Chromosome 16, 86513994: 86513994
35 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh37 Chromosome 16, 86547600: 86547600
36 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh38 Chromosome 16, 86514180: 86514180
37 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh37 Chromosome 16, 86547786: 86547786
38 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh38 Chromosome 16, 86514267: 86514267
39 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh37 Chromosome 16, 86547873: 86547873
40 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh38 Chromosome 16, 86514301: 86514301
41 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh37 Chromosome 16, 86547907: 86547907
42 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh38 Chromosome 16, 86514383: 86514383
43 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh37 Chromosome 16, 86547989: 86547989
44 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs757668134 GRCh38 Chromosome 16, 86510629: 86510631
45 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs757668134 GRCh37 Chromosome 16, 86544235: 86544237
46 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh38 Chromosome 16, 86510654: 86510654
47 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh37 Chromosome 16, 86544260: 86544260
48 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh38 Chromosome 16, 86510773: 86510773
49 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh37 Chromosome 16, 86544379: 86544379
50 FOXF1 NM_001451.2(FOXF1): c.645C> T (p.His215=) single nucleotide variant Benign rs61740819 GRCh38 Chromosome 16, 86511214: 86511214

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 COL18A1 FOXF1
2 extracellular matrix organization GO:0030198 8.96 COL18A1 FOXF1
3 animal organ morphogenesis GO:0009887 8.62 COL18A1 FOXF1

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

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