Details of Disease

General Information of Disease (ID: DIS2CE7R)

• Disease Name: Weaver syndrome
• Synonyms: mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate; intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate; Weaver-like syndrome; Weaver like syndrome; WEAVER syndrome; camptodactyly - overgrowth - unusual facies; WVS; Weaver Williams syndrome; overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; Weaver Smith syndrome; EZH2 related overgrowth; Weaver-Smith syndrome; camptodactyly-overgrowth-unusual facies syndrome; WEAVER-like syndrome; Weaver syndrome
• Definition: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS5Z8U6: Skeletal dysplasia
  DISHK54G: Overgrowth syndrome
  DIS2CE7R: Weaver syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010193
  MESH ID: C536687
  UMLS CUI: C0265210
  OMIM ID: 277590
  MedGen ID: 120511
  Orphanet ID: 3447
  SNOMED CT ID: 63119004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EZH2	TT9MZCQ	Limited	Genetic Variation	[1]
EED	TTFNJ4R	Supportive	Autosomal dominant	[2]
EED	TTFNJ4R	Strong	Genetic Variation	[1]
KMT2A	TT1GNDM	Strong	Genetic Variation	[3]
NSD1	TTTSJ3H	Strong	Genetic Variation	[4]
EZH2	TTJBYRU	Definitive	Autosomal dominant	[5]
NSD1	TTTSJ3H	Definitive	Autosomal dominant	[6]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NRCAM	OT80HHQ2	Limited	Genetic Variation	[7]
EED	OTJFHCDF	Supportive	Autosomal dominant	[2]
SUZ12	OT655XF8	Supportive	Autosomal dominant	[8]
EZH2	OTIEHTKW	Definitive	Autosomal dominant	[5]
NSD1	OTLV02OJ	Definitive	Autosomal dominant	[6]

References

• [1] EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.
• [2] Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb;173(2):541-545. doi: 10.1002/ajmg.a.38055. Epub 2016 Nov 21.
• [3] Wiedemann-Steiner syndrome in two patients from Portugal.Am J Med Genet A. 2020 Jan;182(1):25-28. doi: 10.1002/ajmg.a.61407. Epub 2019 Nov 11.
• [4] NSD1 mutations generate a genome-wide DNA methylation signature.Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207.
• [5] 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.
• [6] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [7] Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2.PLoS One. 2013;8(3):e59251. doi: 10.1371/journal.pone.0059251. Epub 2013 Mar 20.
• [8] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat. 2017 Jun;38(6):637-648. doi: 10.1002/humu.23200. Epub 2017 Mar 15.