KEGG   DISEASE: Sotos syndrome
Entry
H00718                      Disease                                
Name
Sotos syndrome
Description
Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00718  Sotos syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H00718  Sotos syndrome
Related
pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04310  Wnt signaling pathway
hsa00310  Lysine degradation
Gene
(SOTOS1) NSD1 [HSA:64324] [KO:K15588]
(SOTOS2) NFIX [HSA:4784] [KO:K09171]
(SOTOS3) APC2 [HSA:10297] [KO:K02085]
Comment
Beckwith-Wiedemann syndrome [DS:H00713] is a distinct overgrowth condition, and a few cases could be related to NSD1 deletions or mutations.
See also H01751 Weaver syndrome.
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
MeSH: D058495
OMIM: 117550 614753 617169
Reference
  Authors
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V
  Title
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
  Journal
J Med Genet 40:436-40 (2003)
DOI:10.1136/jmg.40.6.436
Reference
  Authors
Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N
  Title
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
  Journal
Am J Hum Genet 72:132-43 (2003)
DOI:10.1086/345647
Reference
  Authors
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
  Title
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
  Journal
Am J Hum Genet 74:715-20 (2004)
DOI:10.1086/383093
Reference
  Authors
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M
  Title
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
  Journal
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 160:161-7 (2016)
DOI:10.5507/bp.2016.006
Reference
  Authors
Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M
  Title
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
  Journal
Cell Rep 10:1585-1598 (2015)
DOI:10.1016/j.celrep.2015.02.011
LinkDB

» Japanese version

DBGET integrated database retrieval system