Details of Disease | DrugMAP

General Information of Disease (ID: DISN4U1D)

Disease Name	Sotos syndrome
Synonyms	distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; SOTOS1; Sotos syndrome; Sotos syndrome caused by mutation in NSD1; Sotos syndrome type 1; cerebral gigantism; cerebral gigantism syndrome; Sotos' syndrome; chromosome 5q35 deletion syndrome; NSD1 Sotos syndrome; Sotos syndrome 1
Definition	Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS6SVEE: Syndromic disease DISJLKZG: Partial deletion of the long arm of chromosome 5 DIS5Z8U6: Skeletal dysplasia DISN4U1D: Sotos syndrome
Disease Identifiers	MONDO ID MONDO_0019349 MESH ID D058495 UMLS CUI C0175695 OMIM ID 117550 MedGen ID 61232 Orphanet ID 821 SNOMED CT ID 75968004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APC2	TTSMK36	Supportive	Autosomal dominant	[1]
SETD2	TTPC3H4	Supportive	Autosomal dominant	[2]
APC2	TTSMK36	Strong	GermlineCausalMutation	[1]
NSD1	TTTSJ3H	Definitive	Autosomal dominant	[3]
SETD2	TTPC3H4	Definitive	GermlineCausalMutation	[2]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NRK	OTGR01FF	Limited	Biomarker	[4]
APC2	OTRH91CX	Supportive	Autosomal dominant	[1]
SETD2	OTQW463T	Supportive	Autosomal dominant	[2]
CSPG5	OTXFEBWR	Definitive	Biomarker	[5]
NFIC	OTLMCUIB	Definitive	Genetic Variation	[6]
NSD1	OTLV02OJ	Definitive	Autosomal dominant	[3]
RASIP1	OTCRY2AN	Definitive	Altered Expression	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. Cell Rep. 2015 Mar 10;10(9):1585-1598. doi: 10.1016/j.celrep.2015.02.011. Epub 2015 Mar 5.
2	Mutations in SETD2 cause a novel overgrowth condition. J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22.
3	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.
4	Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.Am J Med Genet A. 2011 Sep;155A(9):2293-7. doi: 10.1002/ajmg.a.34164. Epub 2011 Aug 10.
5	Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module.Neurosci Res. 1998 Dec;32(4):313-22. doi: 10.1016/s0168-0102(98)00098-4.
6	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.
7	Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.PLoS One. 2012;7(11):e49229. doi: 10.1371/journal.pone.0049229. Epub 2012 Nov 14.