About: alveolar capillary dysplasia

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rare lung disease, present at birth and treatable by lung transplants

Attributes	Values
rdf:type	Item
description	rare lung disease, present at birth and treatable by lung transplants (en)
DiseasesDB	wds:Q4737942-CCE9406C-AE24-4371-AEBE-F9B8AC7FB4D6
DiseasesDB	34875
rdfs:label	alveolar capillary dysplasia (en) dysplasie alvéolo-capillaire (fr) خلل تنسج شعري سنخي (ar)
skos:prefLabel	alveolar capillary dysplasia (en) dysplasie alvéolo-capillaire (fr) خلل تنسج شعري سنخي (ar)
name	alveolar capillary dysplasia (en) dysplasie alvéolo-capillaire (fr) خلل تنسج شعري سنخي (ar)
instance of	wds:Q4737942-267AED1D-DB24-4BC5-8AAF-4E7A8E5EDC25 wds:Q4737942-C8BE4DB2-3C89-422C-A3CA-F48B9B31B974
instance of	class of disease rare disease
subclass of	wds:Q4737942-bfe1fb23-42e2-a540-0fbe-760dc098d655
subclass of	lung disease
KEGG ID	wds:Q4737942-318E72A1-F404-4010-8658-98A8A7C01519
KEGG ID	http://www.kegg.jp/entry/H00830
KEGG ID	H00830
UniProt disease ID	wds:Q4737942-f0c64d60-4514-ab4f-f1a2-86d4e90e54f4
Orphanet ID	wds:Q4737942-36506788-322C-4C46-97F1-244EDF10EA18
genetic association	wds:Q4737942-76358764-FA64-4CF7-A29A-A5A73E3955A7
GARD rare disease ID	wds:Q4737942-1B16856F-334B-4A29-8B4D-C2C034B30EAC
OMIM ID	wds:q4737942-F3786C08-420C-4A94-892B-1B5A261DC099
UniProt disease ID	DI-02714
Orphanet ID	210122
genetic association	FOXF1
GARD rare disease ID	8644
OMIM ID	265380
skos:altLabel	Alveolar capillary dysplasia with misalignment of pulmonary veins (en)
NCI Thesaurus ID	wds:Q4737942-D66CBCA7-9F7F-4155-8619-929A303BC780
UMLS CUI	wds:Q4737942-0B160C0F-27EF-4789-BE17-FE01B84422CF
MeSH descriptor ID	wds:Q4737942-248f31dc-43dc-e67f-f822-2eeadd50f220
Microsoft Academic ID	wds:Q4737942-8B1DB183-15D6-484D-B149-FB09A7D61BD0 wds:Q4737942-C15691A6-7D28-4DDC-8C78-DDB5947D3A6A
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536590
Microsoft Academic ID	https://makg.org/entity/2779845536 https://makg.org/entity/2908706397
NCI Thesaurus ID	C98809
UMLS CUI	C2677362
MeSH descriptor ID	C536590
Microsoft Academic ID	2779845536 2908706397
WikiProjectMed ID	wds:Q4737942-4D6271A6-0AC7-4567-A2F0-FCCEAFAF078F
WikiProjectMed ID	Alveolar capillary dysplasia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q4737942 Alveolar capillary dysplasia https://ar.wikipedia.org/wiki/%D8%AE%D9%84%D9%84_%D8%AA%D9%86%D8%B3%D8%AC_%D8%B4%D8%B9%D8%B1%D9%8A_%D8%B3%D9%86%D8%AE%D9%8A
is main subject of	Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness, and bronchial generation count Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Expanding the phenotype of alveolar capillary dysplasia (ACD). Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome Misalignment of lung vessels and alveolar capillary dysplasia: a cause of persistent pulmonary hypertension Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells. Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. Capillary apposition and density in the diagnosis of alveolar capillary dysplasia Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia: a six-year single center experience. Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn A novel association of alveolar capillary dysplasia and duodenal atresia with paradoxical dilatation of the duodenum A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Misalignment of pulmonary veins and alveolar capillary dysplasia Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia) Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn Alveolar capillary dysplasia: a logical approach to a fatal disease Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies Late presentation of alveolar capillary dysplasia in an infant. Late presentation of misalignment of lung vessels with alveolar capillary dysplasia Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings Inhaled nitric oxide enhances oxygenation but not survival in infants with alveolar capillary dysplasia Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression 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. Alveolar capillary dysplasia: diagnostic potential for cardiac catheterization. A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis. Alveolar capillary dysplasia with misalignment of the pulmonary veins: a rare but fatal cause of neonatal respiratory failure. Congenital alveolar capillary dysplasia: rare cause of persistent pulmonary hypertension Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies Intravenous prostacyclin combined with inhaled nitric oxide therapy for an infant with alveolar capillary dysplasia Congenital alveolar capillary dysplasia: a developmental vascular anomaly causing persistent pulmonary hypertension of the newborn Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. Prolonged survival in alveolar capillary dysplasia syndrome Alveolar capillary dysplasia: an emerging syndrome [Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report] [Alveolar capillary dysplasia with misalignment of the pulmonary veins: a case report and literature review] Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia

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