Alveolar capillary dysplasia with misalignment of pulmonary veins

Preferred Label : Alveolar capillary dysplasia with misalignment of pulmonary veins;

Symbol : ACDMPV;

CISMeF acronym : ACDMPV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies;

Description : Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box F1 gene (FOXF1, 601089.0001);

Prefixed ID : #265380;

Details

Origin ID

265380;

UMLS CUI

C0031190;

Automatic exact mappings (from CISMeF team)
- Alveolar capillary dysplasia with misalignment of pulmonary veins [MedDRA LLT]
- persistent fetal circulation syndrome [MeSH Descriptor]
- persistent fetal circulation syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Congenital alveolar capillary dysplasia [ORDO Disease]
- alveolar capillary dysplasia [MeSH Supplementary Concept]
DO Cross reference
- persistent fetal circulation syndrome [DO Concept]
Genes related to phenotype
- Forkhead box f1 [OMIM gene]
HPO term(s)
- Abnormal lung lobation [HPO term]
- Alveolar capillary dysplasia [HPO term]
- Anal atresia [HPO term]
- Annular pancreas [HPO term]
- Asplenia [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachycephaly [HPO term]
- Butterfly vertebrae [HPO term]
- Chiari malformation [HPO term]
- Choroid plexus cyst [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Congenital shortened small intestine [HPO term]
- Cystic hygroma [HPO term]
- Deeply set eye [HPO term]
- Diastasis recti [HPO term]
- Dilatation of the bladder [HPO term]
- Dilatation of the renal pelvis [HPO term]
- Duodenal atresia [HPO term]
- Dysplastic tricuspid valve [HPO term]
- Esophageal atresia [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic aortic arch [HPO term]
- Hypoplastic left heart [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Interrupted aortic arch [HPO term]
- Intestinal malrotation [HPO term]
- Low-set ears [HPO term]
- Meckel diverticulum [HPO term]
- Micrognathia [HPO term]
- Misalignment of the pulmonary veins [HPO term]
- Neonatal death [HPO term]
- Neonatal respiratory distress [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Omphalocele [HPO term]
- Parachute mitral valve [HPO term]
- Partial anomalous pulmonary venous return [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Persistent left superior vena cava [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Posterior rib fusion [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary artery dilatation [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonary insufficiency [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Pulmonary valve atresia [HPO term]
- Retrognathia [HPO term]
- Right ventricular hypertrophy [HPO term]
- Right-to-left shunt [HPO term]
- Single umbilical artery [HPO term]
- Syringomyelia [HPO term]
- Tetralogy of Fallot [HPO term]
- Thickened nuchal skin fold [HPO term]
- Tracheoesophageal fistula [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital alveolar capillary dysplasia [ORDO Disease]
See also inter- (CISMeF)
- persistent pulmonary hypertension of the newborn [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alveolar capillary dysplasia with misalignment of pulmonary veins [MedDRA LLT]
- Newborn persistent pulmonary hypertension [MedDRA LLT]
- Newborn persistent pulmonary hypertension [MedDRA Preferred Term]
- Persistent Fetal Circulation [NCIt concept]
- Persistent fetal circulation [ICD-10 Sub-category (who)]
- Persistent fetal circulation [MedDRA LLT]
- Persistent fetal circulation [ICD-10 Sub-category]
- Persistent fetal circulation [HPO term]
- Persistent fetal circulation [ICD-9 code]
- Persistent fetal circulation (disorder) [Inactive SNOMED CT concept]
- Persistent fetal circulation syndrome (disorder) [Inactive SNOMED CT concept]
- Persistent foetal circulation [MedDRA Preferred Term]
- Persistent foetal circulation disorders [MedDRA High Level Term]
- Persistent pulmonary hypertension of the newborn [ICD-11 Category]
- Persistent pulmonary hypertension of the newborn [MedDRA LLT]
- Persistent pulmonary hypertension of the newborn (disorder) [SNOMED CT concept]
- persistent fetal circulation [Radlex concept]
- persistent fetal circulation syndrome [SNOMED Notion]
- persistent fetal circulation syndrome [MeSH Descriptor]
- persistent fetal circulation syndrome [MeSH concept]
- persistent fetal circulation syndrome [DO Concept]
- persistent pulmonary hypertension of the newborn [Disease (Nov.)]
Validated automatic mappings to NTBT
- Alveolar capillary dysplasia [HPO term]

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