Details of Disease

General Information of Disease (ID: DISECISP)

• Disease Name: Tatton-Brown-Rahman overgrowth syndrome
• Synonyms: TATTON-BROWN-Rahman syndrome; TBRS; DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton Brown Rahman Syndrome; tall stature-intellectual disability-facial dysmorphism syndrome
• Definition: A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.
• Disease Hierarchy:
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS5Z8U6: Skeletal dysplasia
  DISECISP: Tatton-Brown-Rahman overgrowth syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014382
  UMLS CUI: C4014545
  OMIM ID: 615879
  MedGen ID: 862982
  Orphanet ID: 404443
  SNOMED CT ID: 768843007

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
DNMT3A	TTJUALD	Strong	Genetic Variation	[1]
DNMT3A	TTJUALD	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNMT3A	OTEJP0GH	Definitive	Autosomal dominant	[2]

References

• [1] Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.