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Cystic hamartoma of lung and kidney

Disease definition

Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.

ORPHA:2111

Classification level: Disorder
  • Synonym(s):
    • Graham-Boyle-Troxell syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy
  • ICD-10: Q85.8
  • ICD-11: 2F00.Y
  • OMIM: -
  • UMLS: C2931468
  • MeSH: -
  • GARD: 2557
  • MedDRA: -

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Deutsch (2004) Italiano (2004)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.