Details of Disease

General Information of Disease (ID: DIS99DFP)

• Disease Name: Bannayan-Riley-Ruvalcaba syndrome
• Synonyms: BZS; macrocephaly, pseudopapilledema, and multiple hemangiomata; macrocephaly multiple lipomas and hemangiomata; Ruvalcaba -Myhre-Smith syndrome; RMSS; Ruvalcaba-Myhre-Smith syndrome; macrocephaly pseudopapilledema and multiple hemangiomas; macrocephaly, multiple lipomas, and hemangiomata; Riley-Smith syndrome; macrocephaly with multiple lipomas and hemangiomas; Bannayan syndrome; Ruvalcaba-MYHRE-SMITH syndrome; RILEY-SMITH syndrome; Myhre-Riley-Smith syndrome; BRRS; Bannayan-Zonana syndrome; Bannayan-Riley-Ruvalcaba syndrome
• Definition: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISR6ULG: PTEN hamartoma tumor syndrome
  DISFZFI4: Intestinal polyposis syndrome
  DISVS67S: Vascular disease
  DIS3HIWD: Autosomal dominant disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISHK54G: Overgrowth syndrome
  DIS99DFP: Bannayan-Riley-Ruvalcaba syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007924
  MESH ID: D006223
  UMLS CUI: C0265326
  MedGen ID: 78554
  Orphanet ID: 109
  SNOMED CT ID: 234138005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTEN	TTEUQ4M	Supportive	Autosomal dominant	[1]
FGFR2	TTGJVQM	moderate	Biomarker	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTEN	OTOWDUNT	Supportive	Autosomal dominant	[1]
BMPR1A	OTQOA4ZH	Strong	Biomarker	[3]

References

• [1] PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137.
• [3] A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.J Appl Genet. 2013 Feb;54(1):43-7. doi: 10.1007/s13353-012-0115-z. Epub 2012 Sep 21.