ACD
MCID: ALV006
MIFTS: 67

Alveolar Capillary Dysplasia (ACD) malady

Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases categories
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Summaries for Alveolar Capillary Dysplasia

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Genetics Home Reference:21 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.

MalaCards based summary: Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary veins, is related to microphthalmia and hypertension, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, pulmonary hypertension and stillbirth/neonatal death. An important gene associated with Alveolar Capillary Dysplasia is FOXF1 (forkhead box F1). The drugs tolazoline and tolazoline hydrochloride and the compounds cacl2 and copper have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and heart, and related mouse phenotypes are pigmentation and liver/biliary system.

Wikipedia:65 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital... more...

Description from OMIM:46 265380

Aliases & Classifications for Alveolar Capillary Dysplasia

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Alveolar Capillary Dysplasia, Aliases & Descriptions:

Name: Alveolar Capillary Dysplasia 42 21
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 42 20 22 21 46 48 62
Familial Persistent Pulmonary Hypertension of the Newborn 42 21 62
Congenital Alveolar Capillary Dysplasia 42 21 48
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 42 62
Misalignment of the Pulmonary Vessels 21 62
Acdmpv 21 48
 
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 48
Pulmonary Hypertension, Familial Persistent of the Newborn 42
Persistent Fetal Circulation Syndrome 62
Anemia of Chronic Disease 62
Acd/mpv 21
Acd 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
alveolar capillary dysplasia with misalignment of pulmonary veins:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 265380

Related Diseases for Alveolar Capillary Dysplasia

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



Diseases related to alveolar capillary dysplasia

Symptoms for Alveolar Capillary Dysplasia

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Symptoms by clinical synopsis from OMIM:

265380

Clinical features from OMIM:

265380

Symptoms:

48 (show all 23)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pulmonary hypertension
  • stillbirth/neonatal death
  • intestinal/gut/bowel malrotation
  • hypoplastic left heart/ventricle
  • patent ductus arteriosus
  • abnormal vertebral size/shape
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • duodenal atresia/stenosis/megaduodenum
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • gallbladder/common bile duct anomalies
  • annular pancreas
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • pulmonary valve atresia/stenosis/narrowing
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • atrioventricular canal
  • single umbilical artery
  • megaureter/hydronephrosis/pyeloureteral junction syndrome

HPO human phenotypes related to Alveolar Capillary Dysplasia:

(show all 38)
id Description Frequency HPO Source Accession
1 pulmonary hypertension hallmark (90%) HP:0002092
2 respiratory insufficiency hallmark (90%) HP:0002093
3 patent ductus arteriosus typical (50%) HP:0001643
4 intestinal malrotation typical (50%) HP:0002566
5 hypoplastic left heart typical (50%) HP:0004383
6 single umbilical artery occasional (7.5%) HP:0001195
7 ventricular septal defect occasional (7.5%) HP:0001629
8 defect in the atrial septum occasional (7.5%) HP:0001631
9 tetralogy of fallot occasional (7.5%) HP:0001636
10 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
11 abnormality of the aortic valve occasional (7.5%) HP:0001646
12 complete atrioventricular canal defect occasional (7.5%) HP:0001674
13 abnormality of the aorta occasional (7.5%) HP:0001679
14 annular pancreas occasional (7.5%) HP:0001734
15 abnormality of the spleen occasional (7.5%) HP:0001743
16 aganglionic megacolon occasional (7.5%) HP:0002251
17 tracheoesophageal fistula occasional (7.5%) HP:0002575
18 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
19 abnormality of the gallbladder occasional (7.5%) HP:0005264
20 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
21 urogenital fistula occasional (7.5%) HP:0100589
22 duodenal stenosis occasional (7.5%) HP:0100867
23 defect in the atrial septum rare (5%) HP:0001631
24 autosomal recessive inheritance HP:0000007
25 hydroureter HP:0000072
26 hydronephrosis HP:0000126
27 hypertension HP:0000822
28 polyhydramnios HP:0001561
29 patent ductus arteriosus HP:0001643
30 right-to-left shunt HP:0001694
31 annular pancreas HP:0001734
32 pulmonary hypertension HP:0002092
33 abnormal lung lobation HP:0002101
34 meckel diverticulum HP:0002245
35 duodenal atresia HP:0002247
36 intestinal malrotation HP:0002566
37 pulmonary insufficiency HP:0010444
38 abnormality of the pulmonary veins HP:0011718

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Alveolar Capillary Dysplasia

Search NIH Clinical Center for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Alveolar Capillary Dysplasia

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Genetic tests related to Alveolar Capillary Dysplasia:

id Genetic test Affiliating Genes
1 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins20 22 FOXF1

Anatomical Context for Alveolar Capillary Dysplasia

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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

32
Lung, Spleen, Heart, Pancreas, Eye, Testes, Endothelial

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9KIT, FOXC2, STRA6
2MP:00053708.7F5, KIT, FOXC2
3MP:00030128.6KIT, FOXC2, STRA6
4MP:00053818.5FOXC2, FOXF1, KIT
5MP:00053858.4FOXC2, FOXF1, KIT, F5
6MP:00053888.4SFTPB, FOXC2, FOXF1, KIT
7MP:00036318.2STRA6, FOXC2, KIT, F5
8MP:00053788.2F5, KIT, FOXC2, STRA6
9MP:00053808.0F5, KIT, FOXF1, FOXC2, STRA6
10MP:00053767.7SFTPB, STRA6, FOXC2, KIT, F5
11MP:00107687.3SFTPB, STRA6, FOXC2, FOXF1, KIT, F5

Publications for Alveolar Capillary Dysplasia

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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. (24722050)
2014
2
Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation. (25263726)
2014
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. (24842713)
2014
4
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. (24079727)
2014
5
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. (23444129)
2013
6
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. (23624968)
2013
7
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. (23407133)
2013
8
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
9
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. (24829819)
2013
10
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. (23331759)
2013
11
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. (24147432)
2013
12
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. (22990143)
2013
13
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
14
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. (23279022)
2012
15
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
16
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. (21194000)
2011
17
Alveolar capillary dysplasia with anorectal anomaly. (22080682)
2011
18
Alveolar capillary dysplasia. (21471096)
2011
19
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. (21410831)
2011
20
Summary of &quot;Genomic and genetic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations&quot;. (20118801)
2010
21
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
22
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
23
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
24
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. (17874220)
2008
25
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
26
Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]. (17426375)
2006
27
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006
28
Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. (17060189)
2006
29
Alveolar capillary dysplasia with congenital misalignment of pulmonary vessels. (15793061)
2005
30
Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. (15490144)
2005
31
Alveolar capillary dysplasia: a six-year single center experience. (16207122)
2005
32
Alveolar capillary dysplasia: a logical approach to a fatal disease. (16034752)
2005
33
Expanding the phenotype of alveolar capillary dysplasia (ACD). (15520767)
2004
34
Defective lung vascular development and fatal respiratory distress in endothelial NO synthase-deficient mice: a model of alveolar capillary dysplasia? (15016731)
2004
35
Intravenous prostacyclin combined with inhaled nitric oxide therapy for an infant with alveolar capillary dysplasia. (12225554)
2002
36
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. (12012221)
2002
37
Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings. (10742415)
2000
38
Congenital misalignment of pulmonary vessels and alveolar capillary dysplasia: how to manage a neonatal irreversible lung disease? (10802846)
2000
39
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. (10792102)
2000
40
Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. (10735455)
2000
41
Alveolar capillary dysplasia: an emerging syndrome. (10228309)
1999
42
Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies. (9514134)
1998
43
Test and teach. Number eighty eight: alveolar capillary dysplasia. (9643494)
1998
44
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (9475097)
1998
45
Pathological case of the month. Congenital alveolar capillary dysplasia and misalignment of lung vessels. (9369882)
1997
46
Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. (8472585)
1993
47
Misalignment of pulmonary veins and alveolar capillary dysplasia. (2014189)
1991
48
Primary alveolar capillary dysplasia. (2287533)
1990
49
Congenital alveolar capillary dysplasia: a developmental vascular anomaly causing persistent pulmonary hypertension of the newborn. (4095026)
1985
50
Congenital alveolar capillary dysplasia--an unusual cause of respiratory distress in the newborn. (7293984)
1981

Variations for Alveolar Capillary Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Alveolar Capillary Dysplasia:

64 (show all 19)
id Symbol AA change Variation ID SNP ID
1FOXF1p.Pro49GlnVAR_071016
2FOXF1p.Pro49SerVAR_071017
3FOXF1p.Ser52PheVAR_071018
4FOXF1p.Tyr53CysVAR_071019
5FOXF1p.Ile74AsnVAR_071020
6FOXF1p.Phe85IleVAR_071021
7FOXF1p.Phe85LeuVAR_071022
8FOXF1p.Phe85SerVAR_071023
9FOXF1p.Arg86TrpVAR_071024
10FOXF1p.Gly91GluVAR_071025
11FOXF1p.Gly91ValVAR_071026
12FOXF1p.Val96MetVAR_071027
13FOXF1p.Arg97HisVAR_071028
14FOXF1p.His98GlnVAR_071029
15FOXF1p.Ser101LeuVAR_071030
16FOXF1p.Phe106LeuVAR_071031
17FOXF1p.Gly119AspVAR_071033
18FOXF1p.Pro126LeuVAR_071034
19FOXF1p.Arg139LeuVAR_071035

Clinvar genetic disease variations for Alveolar Capillary Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1FOXF1NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter)single nucleotide variantPathogenicrs121909336GRCh37Chr 16, 86544400: 86544400
2FOXF1NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg)single nucleotide variantPathogenicrs121909337GRCh37Chr 16, 86546689: 86546689
3FOXF1FOXF1, 1-BP DUP, 775TduplicationPathogenic
4FOXF1FOXF1, 2-BP DEL, 956TTdeletionPathogenic

Expression for genes affiliated with Alveolar Capillary Dysplasia

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Expression patterns in normal tissues for genes affiliated with Alveolar Capillary Dysplasia

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

Pathways for genes affiliated with Alveolar Capillary Dysplasia

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Compounds for genes affiliated with Alveolar Capillary Dysplasia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 61Tocris Bioscience, 11DrugBank
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Compounds related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cacl2449.6F5, SFTPB
2copper44 2410.4F5, SFTPB
3p002449.4KIT, F5
4polyacrylamide449.3F5, SFTPB
5isoleucine449.3KIT, SFTPB
6phosphatidylcholine449.2F5, SFTPB
7gold449.2KIT, SFTPB
8nacl449.0F5, SFTPB
9leucine448.8F5, KIT, SFTPB
10progesterone44 28 61 24 1112.8SFTPB, KIT, F5
11vegf448.7F5, KIT, SFTPB
12nitric oxide44 24 1110.7F5, KIT, SFTPB
13threonine448.7SFTPB, KIT, F5
14retinoic acid44 249.6F5, KIT, SFTPB
15cysteine448.5SFTPB, KIT, F5

GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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Cellular components related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6FOXF1, FOXC2
2extracellular spaceGO:0056158.2F5, KIT, SFTPB

Biological processes related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ductus arteriosus closureGO:0970709.8FOXF1, STRA6
2lung vasculature developmentGO:0604269.8FOXF1, STRA6
3artery morphogenesisGO:0488449.7FOXC2, STRA6
4lung alveolus developmentGO:0482869.7STRA6, FOXF1
5blood vessel developmentGO:0015689.6FOXF1, STRA6
6somitogenesisGO:0017569.6FOXF1, FOXC2
7regulation of sequence-specific DNA binding transcription factor activityGO:0510909.5FOXC2, FOXF1
8digestive tract developmentGO:0485659.4KIT, FOXF1
9heart developmentGO:0075079.3STRA6, FOXC2, FOXF1
10lung developmentGO:0303249.2FOXF1, STRA6
11positive regulation of cell migrationGO:0303359.2KIT, FOXF1

Molecular functions related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.6FOXF1, FOXC2
2transcription regulatory region DNA bindingGO:0442129.6FOXF1, FOXC2
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.5FOXF1, FOXC2
4double-stranded DNA bindingGO:0036909.3FOXF1, FOXC2

Products for genes affiliated with Alveolar Capillary Dysplasia

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  • Antibodies
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  • Lysates

Sources for Alveolar Capillary Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet