Patent ductus arteriosus 1

Preferred Label : Patent ductus arteriosus 1;

Symbol : PDA1;

CISMeF acronym : PDA; PDA1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : PDA;

Description : Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002).;

Inheritance : Autosomal recessive;

Prefixed ID : %607411;

Details

Origin ID

607411;

UMLS CUI

C4282128;

Currated CISMeF NLP mapping
- Ductus arteriosus patent [MedDRA LLT]
- PATENT DUCTUS ARTERIOSUS [WHO-ART Preferred Term]
- Patent Ductus Arteriosus [NCIt concept]
- Patent arterial duct [ICD-11 Subcategory]
- Patent arterial duct [ORDO Disease]
- Patent ductus arteriosus [ICD-10 Sub-category]
- Patent ductus arteriosus [ICD-10 Sub-category (who)]
- Patent ductus arteriosus [HPO term]
- Patent ductus arteriosus [MedDRA Preferred Term]
- Patent ductus arteriosus [HRDO Sign]
- Patent ductus arteriosus [ICD-9 code]
- Patent ductus arteriosus (disorder) [SNOMED CT concept]
- Persistence of ductus arteriosus [PASCAL descriptor]
- ductus arteriosus, patent [MeSH Descriptor]
- ductus arteriosus, patent [MeSH concept]
- patent ductus arteriosus [DO Concept]
- patent ductus arteriosus [Disease (Nov.)]
- patent ductus arteriosus [Radlex concept]
- patent ductus arteriosus [SNOMED Notion]
DO Cross reference
- patent ductus arteriosus [DO Concept]
False automatic mappings
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Patent ductus arteriosus [HPO term]
ORDO concept(s)
- Familial patent arterial duct [ORDO Disease]
- Patent arterial duct [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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