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Congenital absence of lung(LACHT)

MedGen UID:
82722
Concept ID:
C0265780
Congenital Abnormality; Disease or Syndrome
Synonyms: Congenital lung agenesis; LACHT; Lung agenesis; MARDINI-NYHAN ASSOCIATION; Pulmonary agenesis; Unilateral lobar pulmonary agenesis; Unilateral lung agenesis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital absence of lung (66489009); Congenital aplasia of lung (66489009); Pulmonary agenesis (66489009); Apulmonism (66489009); Aplasia of lung (702612001); Congenital aplasia of lung (702612001); Aplasia of lung (66489009); Agenesis of lung (66489009)
 
OMIM®: 601612
Orphanet: ORPHA984

Definition

The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009). [from OMIM]

Clinical features

Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Congenital septal defect
MedGen UID:
6752
Concept ID:
C0018816
Disease or Syndrome
Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of lung
Follow this link to review classifications for Congenital absence of lung in Orphanet.

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