Pulmonary atresia + VSD (including Fallot type)

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  Chromosomal map of CHD genes and imbalances.

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External references for Pulmonary atresia + VSD (including Fallot type)

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Genes for phenotype 01.01.06:Pulmonary atresia + VSD (including Fallot type)

Non-syndromic

unresolved
Support: no good correlation between CHD type and candidate gene References: PMID:7377161 (single case report ) Inheritance: Case report pulmonary atresia with ventricular septal defect (OMIM:178370) in father and son Incidence: Comments: Studies: (0) [ show ] [ hide ] Add another study.

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Syndromic

JAG1

Support: unconfirmed: a single case report References: PMID:11152664 (single case report ) Syndromes: Tetralogy of Fallot (OMIM:187500) with pulmonary atresia and facial dysmorphism distinct from Alagille patients. Incidence: Rare Comments: Studies: (1) [ show ] [ hide ] Reference: PMID:11152664 Incidence: 1/1 patients Comments: Eldadah et al. report on a large kindred segregating autosomal dominant ToF with reduced penetrance. A mutation in the JAG1 was found in all affected family members. No individual within this family met diagnostic criteria for Alagille syndrome. All mutation carriers had characteristic but variable facial features, distinct from that of unaffected family members and typical Alagille patients. Add another study.

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Regions for phenotype 01.01.06:Pulmonary atresia + VSD (including Fallot type)

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Translocations 01.01.06:Pulmonary atresia + VSD (including Fallot type)

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Patients reports for 01.01.06:Pulmonary atresia + VSD (including Fallot type)

• case 81 Clinical data Phenotype

• case 1383 Clinical data Phenotype

Automated text-mining genes found for 01.01.06:Pulmonary atresia + VSD (including Fallot type)

AGeneApart Method

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