G2Cdb::Human Disease report

Disease id
D00000313
Name
Aortic valvar stenosis
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (17184563) Unknown (?) Y

References

  • Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene.

    Abadir S, Edouard T and Julia S

    Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France. abadir@club-internet.fr

    Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.

    Cardiology in the young 2007;17;1;95-7

Literature (1)

Pubmed - human_disease

  • Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene.

    Abadir S, Edouard T and Julia S

    Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France. abadir@club-internet.fr

    Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.

    Cardiology in the young 2007;17;1;95-7

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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