ACD
MCID: ALV006
MIFTS: 63

Alveolar Capillary Dysplasia (ACD) malady

Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases categories

Summaries for Alveolar Capillary Dysplasia

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital... more...

MalaCards: Alveolar Capillary Dysplasia, also known as alveolar capillary dysplasia with misalignment of pulmonary veins, is related to microphthalmia and hypertension, and has symptoms including intestinal/gut/bowel malrotation, asplenia/polysplenia/spleen lobulation/accessory spleen and atrioventricular canal. 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.

Description from OMIM:48 265380

Aliases & Classifications for Alveolar Capillary Dysplasia

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
alveolar capillary dysplasia with misalignment of pulmonary veins:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alveolar capillary dysplasia 44 22
alveolar capillary dysplasia with misalignment of pulmonary veins 44 21 23 22 48 50
congenital alveolar capillary dysplasia 44 22 50
familial persistent pulmonary hypertension of the newborn 44 22
alveolar capillary dysplasia with misalignment of pulmonary vessels 50
alveolar capillary dysplasia with pulmonary venous misalignment 44
pulmonary hypertension, familial persistent of the newborn 44
misalignment of the pulmonary vessels 22
acd/mpv 22
acdmpv 22
acd 22


External Ids:

OMIM48 265380

Related Diseases for Alveolar Capillary Dysplasia

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

265380

Clinical features from OMIM:

265380

Symptoms:

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

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Alveolar Capillary Dysplasia

Drug clinical trials:

Search ClinicalTrials for Alveolar Capillary Dysplasia

Search NIH Clinical Center for Alveolar Capillary Dysplasia

Search CenterWatch for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Alveolar Capillary Dysplasia

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21GeneTests, 23GTR
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Genetic tests related to Alveolar Capillary Dysplasia:

id Genetic test Affiliating Genes
1 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins21 23 FOXF1

Anatomical Context for Alveolar Capillary Dysplasia

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34MalaCards
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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

34
Lung, Spleen, Heart, Pancreas, Eye, Testes, Endothelial

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

38 (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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53PubMed
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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. (24079727)
2014
2
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. (23444129)
2013
3
Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis. (23624968)
2013
4
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. (23407133)
2013
5
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
6
FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease. (23331759)
2013
7
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. (24147432)
2013
8
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. (22990143)
2013
9
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
10
Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. (23279022)
2012
11
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. (23063659)
2012
12
A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. (21194000)
2011
13
Alveolar capillary dysplasia with anorectal anomaly. (22080682)
2011
14
Alveolar capillary dysplasia. (21471096)
2011
15
Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus. (21410831)
2011
16
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
17
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia. (20459541)
2010
18
Omphalocele and alveolar capillary dysplasia: a new association. (20453609)
2010
19
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
20
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. (17874220)
2008
21
Alveolar capillary dysplasia presenting as pneumothorax: a case report and review of literature. (17394004)
2007
22
Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]. (17426375)
2006
23
Alveolar Capillary Dysplasia in a Patient with Down's Syndrome. (16944970)
2006
24
Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. (17060189)
2006
25
Alveolar capillary dysplasia with congenital misalignment of pulmonary vessels. (15793061)
2005
26
Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. (15490144)
2005
27
Alveolar capillary dysplasia: a six-year single center experience. (16207122)
2005
28
Alveolar capillary dysplasia: a logical approach to a fatal disease. (16034752)
2005
29
Expanding the phenotype of alveolar capillary dysplasia (ACD). (15520767)
2004
30
Defective lung vascular development and fatal respiratory distress in endothelial NO synthase-deficient mice: a model of alveolar capillary dysplasia? (15016731)
2004
31
Prolonged survival in alveolar capillary dysplasia syndrome. (14677063)
2004
32
Intravenous prostacyclin combined with inhaled nitric oxide therapy for an infant with alveolar capillary dysplasia. (12225554)
2002
33
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. (12012221)
2002
34
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. (11178633)
2001
35
Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings. (10742415)
2000
36
Congenital misalignment of pulmonary vessels and alveolar capillary dysplasia: how to manage a neonatal irreversible lung disease? (10802846)
2000
37
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. (10792102)
2000
38
Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. (10735455)
2000
39
Alveolar capillary dysplasia: an emerging syndrome. (10228309)
1999
40
Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies. (9514134)
1998
41
Test and teach. Number eighty eight: alveolar capillary dysplasia. (9643494)
1998
42
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (9475097)
1998
43
Combined therapy with inhaled nitric oxide and intravenous prostacyclin in an infant with alveolar-capillary dysplasia. (9032222)
1997
44
Pathological case of the month. Congenital alveolar capillary dysplasia and misalignment of lung vessels. (9369882)
1997
45
Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness, and bronchial generation count. (9050066)
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Alveolar Capillary Dysplasia:

65 (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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alveolar Capillary Dysplasia

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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:
46Novoseek, 25HMDB, 30IUPHAR, 62Tocris Bioscience, 12DrugBank
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Compounds related to Alveolar Capillary Dysplasia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cacl2469.6F5, SFTPB
2copper46 2510.4F5, SFTPB
3p002469.4KIT, F5
4polyacrylamide469.3F5, SFTPB
5isoleucine469.3KIT, SFTPB
6phosphatidylcholine469.2F5, SFTPB
7gold469.2KIT, SFTPB
8nacl469.0F5, SFTPB
9leucine468.8F5, KIT, SFTPB
10progesterone46 30 62 25 1212.8SFTPB, KIT, F5
11vegf468.7F5, KIT, SFTPB
12nitric oxide46 25 1210.7F5, KIT, SFTPB
13threonine468.7SFTPB, KIT, F5
14retinoic acid46 259.6F5, KIT, SFTPB
15cysteine468.5SFTPB, KIT, F5

GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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17Gene Ontology
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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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Sources for Alveolar Capillary Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet