Cowden syndrome 1

Term ID

DOID:0050657

Synonyms

• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome
• BRRS
• dysplastic cerebellar gangliocytoma
• dysplastic gangliocytoma of cerebellum
• PHTS
• Proteus-like syndrome
• PTEN hamartoma tumor syndrome
• Riley-Smith syndrome
• Ruvalcaba-Myhre-Smith syndrome
• segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome
• SOLAMEN 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:12800
• GARD:5887
• GARD:6901
• ICD10CM:Q85.81
• ICD10CM:Q87.89
• ICDO:9493/0
• MESH:D006223
• MESH:D016715
• MIM:158350
• NCI:C179915
• NCI:C179930
• NCI:C3939
• NCI:C8419
• ORDO:109
• ORDO:137608
• ORDO:306498
• ORDO:65285
• SNOMEDCT_US_2023_03_01:67944007
• SNOMEDCT_US_2025_03_01:716862002
• SNOMEDCT_US_2025_03_01:763867001
• SNOMEDCT_US_2025_05_01:722859001
• UMLS_CUI:C0391826
• UMLS_CUI:C1866398
• UMLS_CUI:C1959582
• UMLS_CUI:C4706610

Ontology

Human Disease   ( DOID:0050657 )