MCID: ALV006
MIFTS: 33

Alveolar Capillary Dysplasia malady

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Alveolar Capillary Dysplasia

Aliases & Descriptions for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 50 69
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 50
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 50
Pulmonary Hypertension, Familial Persistent of the Newborn 50
Familial Persistent Pulmonary Hypertension of the Newborn 50
Congenital Alveolar Capillary Dysplasia 50

Classifications:



Summaries for Alveolar Capillary Dysplasia

MalaCards based summary : Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary veins, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and persistent fetal circulation syndrome, and has symptoms including respiratory distress, abnormality of the vertebrae and patent ductus arteriosus. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (Forkhead Box F1). Affiliated tissues include lung, heart and pancreas, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 71 Alveolar capillary dysplasia (ACD, sometimes denoted ACDMPV when including misalignment of the pulmonary... more...

Related Diseases for Alveolar Capillary Dysplasia

Graphical network of the top 20 diseases related to Alveolar Capillary Dysplasia:



Diseases related to Alveolar Capillary Dysplasia

Symptoms & Phenotypes for Alveolar Capillary Dysplasia

Human phenotypes related to Alveolar Capillary Dysplasia:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 abnormality of the vertebrae 32 HP:0003468
3 patent ductus arteriosus 32 HP:0001643
4 bicuspid aortic valve 32 HP:0001647
5 hypoplastic left heart 32 HP:0004383
6 aganglionic megacolon 32 HP:0002251
7 anal atresia 32 HP:0002023
8 tetralogy of fallot 32 HP:0001636
9 ventricular septal defect 32 HP:0001629
10 intestinal malrotation 32 HP:0002566
11 tracheoesophageal fistula 32 HP:0002575
12 hydronephrosis 32 HP:0000126
13 asplenia 32 HP:0001746
14 atrioventricular canal defect 32 HP:0006695
15 volvulus 32 HP:0002580
16 aortic valve stenosis 32 HP:0001650
17 single umbilical artery 32 HP:0001195
18 annular pancreas 32 HP:0001734
19 duodenal stenosis 32 HP:0100867
20 absent gallbladder 32 HP:0011467
21 pulmonary valve atresia 32 HP:0010882
22 atrial septal defect 32 HP:0001631
23 pulmonary arterial hypertension 32 HP:0002092

MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 COL18A1 F5 FOXC2 FOXF1 KIT STRA6
2 craniofacial MP:0005382 9.56 COL18A1 FOXC2 KIT STRA6
3 embryo MP:0005380 9.55 F5 FOXC2 FOXF1 KIT STRA6
4 pigmentation MP:0001186 9.26 COL18A1 FOXC2 KIT STRA6
5 vision/eye MP:0005391 8.92 COL18A1 FOXC2 KIT STRA6

Drugs & Therapeutics for Alveolar Capillary Dysplasia

Search Clinical Trials , NIH Clinical Center for Alveolar Capillary Dysplasia

Genetic Tests for Alveolar Capillary Dysplasia

Anatomical Context for Alveolar Capillary Dysplasia

MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

39
Lung, Heart, Pancreas, Testes, Endothelial, Eye

Publications for Alveolar Capillary Dysplasia

Articles related to Alveolar Capillary Dysplasia:

(show top 50) (show all 97)
id Title Authors Year
1
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
2
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. ( 27439648 )
2016
3
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
4
Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1. ( 28008732 )
2016
5
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
6
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment ofA Pulmonary Veins. ( 26703872 )
2016
7
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. ( 25627281 )
2015
8
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
9
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. ( 26615352 )
2015
10
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. ( 25899071 )
2015
11
Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. ( 24675018 )
2014
12
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. ( 24079727 )
2014
13
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. ( 25263726 )
2014
14
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
2014
15
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
16
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
17
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. ( 23624968 )
2013
18
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
19
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23444129 )
2013
20
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
21
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
2013
22
Paracorporeal lung assist device: an innovative surgical strategy for bridging to lung transplant in an infant with severe pulmonary hypertension caused by alveolar capillary dysplasia. ( 23871141 )
2013
23
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
2013
24
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
25
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. ( 23331759 )
2013
26
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. ( 23505205 )
2013
27
Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype. ( 23023706 )
2012
28
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. ( 23279022 )
2012
29
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. ( 23063659 )
2012
30
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. ( 21194000 )
2011
31
Alveolar capillary dysplasia with anorectal anomaly. ( 22080682 )
2011
32
Alveolar capillary dysplasia. ( 21471096 )
2011
33
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. ( 21410831 )
2011
34
Misalignment of lung vessels and alveolar capillary dysplasia: a case report with autopsy. ( 21835371 )
2011
35
Summary of "Genomic and genetic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations". ( 20118801 )
2010
36
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. ( 20425831 )
2010
37
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 20459541 )
2010
38
Expression of angiogenic and vasculogenic proteins in the lung in alveolar capillary dysplasia/misalignment of pulmonary veins: an immunohistochemical study. ( 20331367 )
2010
39
Omphalocele and alveolar capillary dysplasia: a new association. ( 20453609 )
2010
40
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. ( 19500772 )
2009
41
A neonate with coexisting congenital cystic adenomatoid malformation of the lung and alveolar capillary dysplasia: a case report with review of literature. ( 18477924 )
2008
42
Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. ( 18997591 )
2008
43
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. ( 18983610 )
2008
44
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. ( 17874220 )
2008
45
Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. ( 18633766 )
2008
46
ABCA3 mutation and pulmonary hypertension: a link with alveolar capillary dysplasia? ( 18492541 )
2008
47
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. ( 17394004 )
2007
48
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. ( 17273977 )
2007
49
A rare case of aortic coarctation and ventricular septal defect combined with alveolar capillary dysplasia. ( 17530317 )
2007
50
Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve. ( 16331469 )
2006

Variations for Alveolar Capillary Dysplasia

ClinVar genetic disease variations for Alveolar Capillary Dysplasia:

6
id 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.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh37 Chromosome 16, 86546689: 86546689
3 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
4 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic

Copy number variations for Alveolar Capillary Dysplasia from CNVD:

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

Expression for Alveolar Capillary Dysplasia

Search GEO for disease gene expression data for Alveolar Capillary Dysplasia.

Pathways for Alveolar Capillary Dysplasia

GO Terms for Alveolar Capillary Dysplasia

Biological processes related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.58 FOXC2 FOXF1 STRA6
2 animal organ morphogenesis GO:0009887 9.54 COL18A1 FOXF1
3 kidney development GO:0001822 9.52 FOXC2 STRA6
4 lung development GO:0030324 9.51 FOXF1 STRA6
5 positive regulation of cell migration GO:0030335 9.5 COL18A1 FOXF1 KIT
6 somitogenesis GO:0001756 9.49 FOXC2 FOXF1
7 mesoderm development GO:0007498 9.48 FOXC2 FOXF1
8 lung alveolus development GO:0048286 9.46 FOXF1 STRA6
9 digestive tract development GO:0048565 9.43 FOXF1 KIT
10 artery morphogenesis GO:0048844 9.37 FOXC2 STRA6
11 embryonic digestive tract development GO:0048566 9.26 FOXF1 STRA6
12 lung vasculature development GO:0060426 9.16 FOXF1 STRA6
13 ductus arteriosus closure GO:0097070 8.96 FOXF1 STRA6
14 blood vessel development GO:0001568 8.8 FOXC2 FOXF1 STRA6

Molecular functions related to Alveolar Capillary Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 FOXC2 FOXF1

Sources for Alveolar Capillary Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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