MCID: ALV006
MIFTS: 39

Alveolar Capillary Dysplasia malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases

Aliases & Classifications for Alveolar Capillary Dysplasia

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Aliases & Descriptions for Alveolar Capillary Dysplasia:

Name: Alveolar Capillary Dysplasia 45 65
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 45 51
Congenital Alveolar Capillary Dysplasia 45 51
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 51
Alveolar Capillary Dysplasia with Pulmonary Venous Misalignment 45
 
Pulmonary Hypertension, Familial Persistent of the Newborn 45
Familial Persistent Pulmonary Hypertension of the Newborn 45
Persistent Fetal Circulation Syndrome 65
Acdmpv 51

Characteristics:

Orphanet epidemiological data:

51
alveolar capillary dysplasia with misalignment of pulmonary veins:
Prevalence: 1-9/100000 (Canada),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:



External Ids:

Orphanet51 210122
UMLS65 C2677362

Summaries for Alveolar Capillary Dysplasia

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Wikipedia:68 Alveolar capillary dysplasia (ACD, also congenital alveolar dysplasia) is a very rare congenital... more...

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/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 have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and heart, and related mouse phenotypes are pigmentation and vision/eye.

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:

 51 (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

Drugs & Therapeutics for Alveolar Capillary Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alveolar Capillary Dysplasia

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Alveolar Capillary Dysplasia

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Anatomical Context for Alveolar Capillary Dysplasia

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MalaCards organs/tissues related to Alveolar Capillary Dysplasia:

33
Lung, Spleen, Heart, Pancreas, Endothelial, Prostate, Tongue

Animal Models for Alveolar Capillary Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Capillary Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5COL18A1, FOXC2, KIT, STRA6
2MP:00053918.4COL18A1, FOXC2, KIT, STRA6
3MP:00053808.1F5, FOXC2, FOXF1, KIT, STRA6
4MP:00053828.0COL18A1, FOXC2, KIT, STRA6
5MP:00036317.6COL18A1, F5, FOXC2, KIT, STRA6
6MP:00053857.3COL18A1, F5, FOXC2, FOXF1, KIT, STRA6

Publications for Alveolar Capillary Dysplasia

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Articles related to Alveolar Capillary Dysplasia:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
IgA response and protection following nasal vaccination of chickens with Newcastle disease virus DNA vaccine nanoencapsulated with Ag@SiO2 hollow nanoparticles. (27170532)
2016
2
A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer. (25670033)
2015
3
Relation of plasma tissue kallikrein levels to presence and severity of coronary artery disease in a Chinese population. (24626253)
2014
4
Geographic predictors of primary multidrug-resistant tuberculosis cases in an endemic area of Lima, Peru. (25299862)
2014
5
HLA-DP and IL28B polymorphisms: influence of host genome on hepatitis B surface antigen seroclearance in chronic hepatitis B. (23449268)
2013
6
The diagnostic role of procalcitonin in quinine-induced disseminated intravascular coagulation. (23362913)
2013
7
Differential molecular chaperone response associated with various mouse adapted scrapie strains. (23370284)
2013
8
Effective treatment of metastatic renal cell carcinoma with topical imiquimod therapy. (24128072)
2013
9
Predictive value of tumor recurrence using urinary vascular endothelial factor levels in patients receiving radiation therapy for Glioblastoma Multiforme (GBM). (24252135)
2013
10
Inhibition of experimental myopia by a dopamine agonist: different effectiveness between form deprivation and hyperopic defocus in guinea pigs. (22128230)
2011
11
Behavior of human mesenchymal stem cells in fibrin-based vascular tissue engineering constructs. (20077010)
2010
12
Optimal dose regimens of esomeprazole for gastric acid suppression with minimal influence of the CYP2C19 polymorphism. (18751689)
2009
13
Current studies on myofascial pain syndrome. (19728962)
2009
14
A gene marker panel covering the Wnt and the Ras-Raf-MEK-MAPK signalling pathways allows to detect gene mutations in 80% of early (UICC I) colon cancer stages in humans. (19679059)
2009
15
Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals. (19594371)
2009
16
Clinical significance of measuring levels of tumor necrosis factor-alpha and soluble interleukin-2 receptor in nasopharyngeal carcinoma. (19922107)
2009
17
The spectrum of herpes simplex encephalitis in children. (17870623)
2008
18
ISG20, an actor of the innate immune response. (17445960)
2007
19
Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices. (16537462)
2006
20
Plasma and cerebrospinal fluid-based protein biomarkers for motor neuron disease. (17022691)
2006
21
Left ventricular noncompaction cardiomyopathy in association with trisomy 13. (15549619)
2005
22
No evidence that FLT3 status should be considered as an indicator for transplantation in acute myeloid leukemia (AML): an analysis of 1135 patients, excluding acute promyelocytic leukemia, from the UK MRC AML10 and 12 trials. (16076872)
2005
23
Thrombophilic risk factors in patients with severe carotid atherosclerosis. (15748240)
2005
24
Mechanism of Aurora-B degradation and its dependency on intact KEN and A-boxes: identification of an aneuploidy-promoting property. (15923616)
2005
25
Repair of DNA lesions in chromosomal DNA impact of chromatin structure and Cockayne syndrome proteins. (15961352)
2005
26
Is adiponectin involved in the pathogenesis of nonalcoholic steatohepatitis? A preliminary human study. (15718867)
2005
27
Role of individual predisposition in orthostatic intolerance before and after simulated microgravity. (15075309)
2004
28
Correlative value of magnetic resonance imaging for neurodevelopmental outcome in periventricular leukomalacia. (15540633)
2004
29
Enhanced 7-ethyl-10-hydroxycamptothecin (SN-38) lethality by methylselenocysteine is associated with Chk2 phosphorylation at threonine-68 and down-regulation of Cdc6 expression. (15213307)
2004
30
Bispecific single-chain diabody-mediated killing of endoglin-positive endothelial cells by cytotoxic T lymphocytes. (14770081)
2004
31
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. (12545276)
2003
32
Impaired binaural hearing in children produced by a threshold level of middle ear disease. (12943367)
2003
33
What is your diagnosis? Gastric dilatation and herniation of the stomach into the caudal region of the thorax. (11700701)
2001
34
Myeloperoxidase antineutrophil cytoplasmic antibody-positive necrotizing crescentic glomerulonephritis and membranous glomerulonephropathy. (10543328)
1999
35
Regional and temporal expression of the peripheral benzodiazepine receptor in MPTP neurotoxicity. (10330690)
1999
36
Role of nitroreductases but not cytochromes P450 in the metabolic activation of 1-nitropyrene in the HepG2 human hepatoblastoma cell line. (9354593)
1997
37
Exploring the role of oxygen in Fanconi's anemia. (8912432)
1997
38
Creatine kinase system in failing and nonfailing human myocardium. (8873665)
1996
39
The novel human protein serine/threonine phosphatase 6 is a functional homologue of budding yeast Sit4p and fission yeast ppe1, which are involved in cell cycle regulation. (9013334)
1996
40
Splenomegaly and percussion: is the background noise due to tongue in cheek? (8046799)
1994
41
Tarsal tunnel syndrome caused by an anomalous muscle. (8077260)
1994
42
Quantitative studies of F responses in Guillain-BarrAc syndrome and chronic inflammatory demyelinating polyneuropathy. (7521285)
1994
43
Inhibition of dihydrofolate reductase by mofebutazon. (8251039)
1993
44
Evaluation of the role of reactive oxygen species in doxorubicin hydrochloride nephrosis. (1940584)
1991
45
Serum complement activation in central nervous system disease in SjAPgren's syndrome. (3177398)
1988
46
Gruntzig balloon dilation for fibromuscular dysplasia of the internal carotid arteries. (3157891)
1985
47
Angiographic abnormalities in combined myositis ossificans and digital ischemia of the hand. Report of a case. (4827354)
1974
48
Experimentally induced actinomycotic mycetoma. (4671909)
1972
49
The Preparation and Use of Vaccines for the Prevention of Pasteurellosis. (17421325)
1961
50
Hereditary elliptocytosis in two Nigerian families. (13809318)
1959

Variations for Alveolar Capillary Dysplasia

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Expression for genes affiliated with Alveolar Capillary Dysplasia

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

Pathways for genes affiliated with Alveolar Capillary Dysplasia

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GO Terms for genes affiliated with Alveolar Capillary Dysplasia

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ductus arteriosus closureGO:009707010.1FOXF1, STRA6
2mesoderm developmentGO:00074989.9FOXC2, FOXF1
3lung alveolus developmentGO:00482869.9FOXF1, STRA6
4somitogenesisGO:00017569.9FOXC2, FOXF1
5organ morphogenesisGO:00098879.8COL18A1, FOXF1
6kidney developmentGO:00018229.8FOXC2, STRA6
7lung developmentGO:00303249.7FOXF1, STRA6
8digestive tract developmentGO:00485659.7FOXF1, KIT
9blood vessel developmentGO:00015689.5FOXC2, FOXF1, STRA6
10heart developmentGO:00075079.3FOXC2, FOXF1, STRA6
11positive regulation of cell migrationGO:00303359.3COL18A1, FOXF1

Sources for Alveolar Capillary Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet