Other rare genturis

Other rare – predominantly malignant – genturis

(Thematic disease group 4)

• PTEN hamartoma tumour syndrome
• Li-Fraumeni Syndrome
• Birt-Hogg-Dubé Syndrome
• Familial Malignant Melanoma
• Constitutional Mismatch repair deficiency
• Rhabdoid Tumour Predisposition Syndrome 2
• CDH1 related Hereditary diffuse gastric cancer
• Carney Complex
• Hereditary Papillary Renal Cell Carcinoma
• Ataxia-Telangiectasia
• Bloom syndrome
• Nevoid basal cell carcinoma syndrome / Gorlin syndrome**
• Werner Syndrome
• Hereditary Leiomyomatosis and Renal Cell Cancer
• Von Hippel-Lindau disease**
• Fanconi anemia
• Paraganglioma, Hereditary pheochromocytoma-paraganglioma

**Clinical practice guidelines for these genturis are available here: ERN GENTURIS endorsed guidelines for other rare genturis

 

Thematic leads

The thematic lead for other rare genturis is:

Maurizio Genuardi at the Fondazione Policlinico Universitario A. Gemelli in Rome, Italy.