Bannayan-Riley-Ruvalcaba syndrome

Term ID

DOID:0050657

Synonyms

• Bannayan-Zonana syndrome
• Cowden syndrome 1
• Riley-Smith syndrome
• Ruvalcaba-Myhre-Smith syndrome

Definition

A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (4)

References

• GARD:5887
• ICD10CM:Q87.89
• MESH:D006223
• NCI:C3939
• OMIM:158350
• ORDO:109

Ontology

Human Disease   ( DOID:0050657 )