Congenital total pulmonary venous return anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: SCIMITAR ANOMALY
ANOMALOUS PULMONARY VENOUS RETURN
SCIMITAR SYNDROME
TAPVR1
APVR
Number of Symptoms 9
OrphanetNr: 99125
OMIM Id: 106700
ICD-10: Q26.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital pulmonary venous return anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009884) Tapered distal phalanges of finger rare [HPO:skoehler] 4 / 7739
2
 (HPO:0008386) Aplasia/Hypoplasia of the nails 4 / 7739
3
 (HPO:0005160) Total anomalous pulmonary venous return 4 / 7739
4
 (HPO:0002092) Pulmonary hypertension 109 / 7739
5
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Cardiac dextroposition 1 / 7739
8
 (OMIM) Scimitar appearance of anomalous right lower pulmonary vein 1 / 7739
9
 (OMIM) Hypoplastic right lung 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries ...
Clinical Description OMIM Neill et al. (1960) described father and daughter with hypoplastic right lung with systemic arterial supply and venous drainage. They referred to the disorder as the 'scimitar syndrome' because of the radiographic appearance created by the anomalous vein ...
Population genetics OMIM Bleyl et al. (2010) stated that TAPVR affects 1 in 15,000 live births.