MCID: STS001
MIFTS: 46

Sotos Syndrome malady

Summaries for Sotos Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Sotos syndrome is a condition characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. affected individuals have facial features, most prominant in childhood, that include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. in addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. people with sotos syndrome often have intellectual impairment, and most also have behavioral problems. problems with speech and language are also common. additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. sotos syndrome is caused by mutations in the nsd1 gene. about 95% of cases represent new mutations and occur in families with no history of the condition. in a small number of families, the condition appears to be inherited in an autosomal dominant pattern. last updated: 5/27/2011 references sotos syndrome. genetics home reference. june 2006; http://ghr.nlm.nih.gov/condition/sotos-syndrome. accessed 4/15/2011. your questions answered by the genetic and rare diseases information center 1 question(s) from the public on sotos syndrome have been answered. see questions and answers. you can also submit a new question.

MalaCards: Sotos Syndrome, also known as cerebral gigantism, is related to gigantism and n syndrome. An important gene associated with Sotos Syndrome is NSD1 (nuclear receptor binding SET domain protein 1), and among its related pathways is Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The compound lanreotide have been mentioned in the context of this disorder. Affiliated tissues include heart, small intestine and kidney.

Disease Ontology:8 An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

Genetics Home Reference:21 Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. Adult height is usually in the normal range, however.

NINDS:44 Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.

Wikipedia:64 Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical... more...

Description from OMIM:47 601451,117550

GeneReviews summary for sotos

Aliases & Classifications for Sotos Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT, 40NCIt
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Aliases & Descriptions:

sotos syndrome 8 19 43 20 22 21 44 10 45
cerebral gigantism 8 19 43 21 44
sotos' syndrome 21 61
distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development 43
sotos sequence 21


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Disease Ontology8 DOID:14748
SNOMED-CT57 75968004
MeSH35 D058495
NCIt40 C75019

Related Diseases for Sotos Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sotos Syndrome:



Diseases related to sotos syndrome

Clinical Features for Sotos Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

601451,117550

Drugs & Therapeutics for Sotos Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Sotos Syndrome

Drug clinical trials:

Search ClinicalTrials for Sotos Syndrome

Search NIH Clinical Center for Sotos Syndrome

Search CenterWatch for Sotos Syndrome

Genetic Tests for Sotos Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Sotos Syndrome:

id Genetic test Affiliating Genes
1 Sotos Syndrome20 NSD1
2 Sotos' Syndrome22

Anatomical Context for Sotos Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Sotos Syndrome:

33
Heart, Small intestine, Kidney, Lung, Thyroid, T cells, Fetal lung, Fetal thyroid

Animal Models for Sotos Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Sotos Syndrome

Sources:
51PubMed
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Articles related to Sotos Syndrome:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings. (24192683)
2013
2
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome. (23239432)
2013
3
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? (23913520)
2013
4
A case of Sotos syndrome with neuroblastoma. (23211691)
2013
5
Generation of the Sotos syndrome deletion in mice. (22926222)
2012
6
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. (21834047)
2011
7
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. (22012791)
2011
8
Left ventricular noncompaction in Sotos syndrome. (21484993)
2011
9
Regional anesthesia in a child with sotos syndrome. (21669133)
2011
10
Isolated left ventricular noncompaction in a case of sotos syndrome: a casual or causal link? (21747990)
2011
11
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. (19876911)
2009
12
The first neurosurgical analysis of 8 korean children with sotos syndrome. (19096684)
2008
13
Gene symbol: NSD1. Disease: Sotos syndrome. (18846652)
2008
14
Dentofacial growth in patients with Sotos syndrome. (17978548)
2007
15
Sotos syndrome is associated with leukemia/lymphoma. (17480008)
2007
16
A case of Sotos syndrome with subduroperitoneal shunt. (16636621)
2006
17
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. (16547423)
2006
18
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype. (16252063)
2006
19
Neuroradiologic findings in Sotos syndrome. (16970856)
2006
20
Speech-language characteristics of children with Sotos syndrome. (16001444)
2005
21
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. (16170239)
2005
22
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. (16232326)
2005
23
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. (15640245)
2005
24
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. (15455365)
2004
25
Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome. (15198293)
2004
26
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. (14517949)
2003
27
Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. (11942428)
2002
28
Bilateral calcified ovarian fibromas in a patient with Sotos syndrome. (12057743)
2002
29
Fibroma of the left ventricle in a patient with Sotos syndrome. (11360878)
2001
30
Sotos' syndrome ellipsis...a rare challenge? (11493257)
2001
31
Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. (11426446)
2001
32
Sacrococcygeal teratoma in two cases of Sotos syndrome. (11078573)
2000
33
Aggressive behavior in patients with Sotos syndrome. (10669209)
2000
34
Testicular yolk sac tumour in a patient with Sotos syndrome. (10233517)
1999
35
Cancer in Sotos syndrome. (10523244)
1999
36
Gastric carcinoma in Sotos syndrome (cerebral gigantism). (10434127)
1999
37
The neuroimaging findings in Sotos syndrome. (9021022)
1997
38
Congenital urological anomalies in Sotos syndrome. (8795429)
1996
39
Congenital urological anomalies in Sotos syndrome. (7648047)
1995
40
Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome. (8025295)
1994
41
Familial Sotos syndrome: longitudinal study of two additional cases. (7917124)
1994
42
Sotos syndrome; an endocrine and neurological maze. (8497103)
1993
43
Chromosomal aberrations in Sotos syndrome. (1623632)
1992
44
Sotos syndrome. (2231650)
1990
45
Prader-Willi syndrome and Sotos syndrome. (2706803)
1989
46
Morphologic alterations of the temporomandibular joint in a patient with Sotos' syndrome: report of a case. (3052238)
1988
47
Sotos syndrome and fragile X chromosomes. (2886781)
1987
48
Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes. (3953650)
1986
49
Metacarpophalangeal pattern profile analysis in Sotos syndrome. (3993685)
1985
50
Familial occurrence of cerebral gigantism, Sotos' syndrome. (1274571)
1976

Genetic Variations for Sotos Syndrome

Expression for genes affiliated with Sotos Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sotos Syndrome

Search GEO for disease gene expression data for Sotos Syndrome.

Pathways for genes affiliated with Sotos Syndrome

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54Reactome
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Pathways related to Sotos Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2IGFBP6, IGFBP3

Compounds for genes affiliated with Sotos Syndrome

Sources:
45Novoseek, 29IUPHAR
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Compounds related to Sotos Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lanreotide45 2911.2IGFBP3, SSTR4

GO Terms for genes affiliated with Sotos Syndrome

Sources:
16Gene Ontology
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Molecular functions related to Sotos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor I bindingGO:03199410.2IGFBP6, IGFBP3

Products for genes affiliated with Sotos Syndrome

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Sources for Sotos Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet