Details of Disease

General Information of Disease (ID: DISHK54G)

Disease Name Overgrowth syndrome
Definition
A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISHK54G: Overgrowth syndrome
Disease Identifiers
MONDO ID
MONDO_0019716
UMLS CUI
C2986703
MedGen ID
458929
Orphanet ID
93460

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EED TTFNJ4R Limited Biomarker [1]
GPC3 TTJTSX4 Limited Genetic Variation [2]
NPR2 TTNB7IF Limited Genetic Variation [3]
KMT5B TTJGV7F Strong Genetic Variation [4]
NSD1 TTTSJ3H Strong Genetic Variation [5]
PDGFRB TTI7421 Strong Genetic Variation [6]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHD8 OTS7A6AF Limited Biomarker [7]
H1-4 OTQ450A3 Limited Biomarker [8]
NSD3 OT3677ZG Limited Genetic Variation [9]
RNF135 OT18NH5N Limited Autosomal dominant [10]
TCF20 OT8LQAOV Limited Genetic Variation [11]
EML1 OTOP2E01 Strong Biomarker [12]
FIBP OTI7131S Strong Biomarker [13]
GPC4 OTUJ14DW Strong Biomarker [14]
GPC5 OT8NR7GC Strong Biomarker [14]
NFIX OT1DPZAE Strong Biomarker [15]
RNF125 OTBD1Q3X Strong Genetic Variation [16]
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⏷ Show the Full List of 11 DOT(s)

References

1 Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6.
2 Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24.
3 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.Am J Med Genet A. 2014 Jan;164A(1):156-63. doi: 10.1002/ajmg.a.36218. Epub 2013 Nov 20.
4 Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.
5 Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.Nucleic Acids Res. 2016 Apr 20;44(7):3448-63. doi: 10.1093/nar/gkw103. Epub 2016 Feb 20.
6 Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):650-657. doi: 10.1002/ajmg.c.31755. Epub 2019 Nov 11.
7 The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13.
8 Growth pattern of Rahman syndrome.Am J Med Genet A. 2018 Mar;176(3):712-714. doi: 10.1002/ajmg.a.38616. Epub 2018 Jan 31.
9 Evaluation of NSD2 and NSD3 in overgrowth syndromes.Eur J Hum Genet. 2005 Feb;13(2):150-3. doi: 10.1038/sj.ejhg.5201298.
10 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
11 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.Eur J Hum Genet. 2016 Dec;24(12):1739-1745. doi: 10.1038/ejhg.2016.90. Epub 2016 Jul 20.
12 EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11.
13 A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. Am J Med Genet A. 2016 Aug;170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17.
14 An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.Eur J Med Genet. 2010 Jan-Feb;53(1):45-9. doi: 10.1016/j.ejmg.2009.11.003. Epub 2009 Nov 23.
15 NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.Eur J Med Genet. 2015 Sep;58(9):488-91. doi: 10.1016/j.ejmg.2015.06.009. Epub 2015 Jul 17.
16 A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.