Details of Disease

General Information of Disease (ID: DISVF1HM)

• Disease Name: Rubinstein-Taybi syndrome
• Synonyms: RSTS; Rubinstein-Taybi Syndrome; proximal chromosome 16p13.3 deletion syndrome; Broad thumb-hallux syndrome; Rubinstein syndrome; Broad thumbs-halluces syndrome
• Definition: A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS3LICD: Congenital limb malformation
  DIS1I87P: Intellectual disability, autosomal dominant
  DISHPNVX: Dysplasia
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISVF1HM: Rubinstein-Taybi syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019188
  MESH ID: D012415
  UMLS CUI: C0035934
  MedGen ID: 48517
  Orphanet ID: 783
  SNOMED CT ID: 45582004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	TTH4VJL	Strong	Genetic Variation	[1]
CREBBP	TTFRCTK	Definitive	Autosomal dominant	[2]
EIF4E	TTZGCP6	Definitive	Biomarker	[3]
EP300	TTGH73N	Definitive	Autosomal dominant	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC20A1	DTMULXV	Limited	Genetic Variation	[5]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SRCAP	OT82P6CN	Limited	Biomarker	[6]
NIPBL	OTF6OOLU	moderate	Genetic Variation	[7]
ENOSF1	OT65D3ZK	Strong	Genetic Variation	[8]
RECQL4	OT59LSW7	Strong	Genetic Variation	[8]
SMOC1	OTJG2JQY	Strong	Biomarker	[9]
CREBBP	OTPA4QGM	Definitive	Autosomal dominant	[2]
EP300	OTL8QJDX	Definitive	Autosomal dominant	[4]
OPN1LW	OTFNUZ7O	Definitive	Biomarker	[3]
PAG1	OTFOJUIQ	Definitive	Biomarker	[3]
PCBP4	OTDLL4NB	Definitive	Biomarker	[3]

References

• [1] Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.
• [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.
• [3] Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.Carcinogenesis. 2020 May 14;41(3):257-266. doi: 10.1093/carcin/bgz149.
• [4] Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. 2009 May;149A(5):997-1000. doi: 10.1002/ajmg.a.32771.
• [5] The alpha-thalassemia/mental retardation syndromes.Medicine (Baltimore). 1996 Mar;75(2):45-52. doi: 10.1097/00005792-199603000-00001.
• [6] Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.
• [7] Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.Orphanet J Rare Dis. 2019 Feb 15;14(1):45. doi: 10.1186/s13023-019-1022-8.
• [8] Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.
• [9] SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.