Lung agenesis-heart defect-thumb anomalies syndrome

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.



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Total: 0 (papers)

  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0001680 Coarctation of aorta Frequent (79-30%)
HP:0002101 Abnormal lung lobation Frequent (79-30%)
HP:0006703 Aplasia/Hypoplasia of the lungs Frequent (79-30%)
HP:0010772 Anomalous pulmonary venous return Frequent (79-30%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001172 Abnormal thumb morphology Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0001199 Triphalangeal thumb Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001646 Abnormal aortic valve morphology Occasional (29-5%)
HP:0001647 Bicuspid aortic valve Occasional (29-5%)
HP:0001772 Talipes equinovalgus Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002414 Spina bifida Occasional (29-5%)
HP:0003422 Vertebral segmentation defect Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0006695 Atrioventricular canal defect Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases Occasional (29-5%)
HP:0009623 Proximal placement of thumb Occasional (29-5%)
HP:0009778 Short thumb Occasional (29-5%)
HP:0009882 Short distal phalanx of finger Occasional (29-5%)
HP:0011039 Abnormality of the helix Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID