MCID: STS001
MIFTS: 45

Sotos Syndrome malady

Summaries for Sotos Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 cerebritis and weaver 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 eye, bone and heart.

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

Wikipedia:63 Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical... more...

Description from OMIM:46 601451,117550

GeneReviews summary for sotos

Aliases & Classifications for Sotos Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

sotos syndrome 8 19 42 20 22 21 43 10 44
cerebral gigantism 8 19 42 21 43
sotos' syndrome 21 60
distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development 42
sotos sequence 21


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Disease Ontology8 DOID:14748
SNOMED-CT56 75968004
MeSH34 D058495
NCIt39 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

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46OMIM
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Clinical features from OMIM:

601451,117550

Drugs & Therapeutics for Sotos Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Sotos Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Sotos Syndrome:

32
Eye, Bone, Heart, Testes, Kidney, Lung, Thyroid

Animal Models for Sotos Syndrome or affiliated genes

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Publications for Sotos Syndrome

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50PubMed
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Articles related to Sotos Syndrome:

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idTitleAuthorsYear
1
Diaphragmatic hernia: a previously unreported association with Sotos syndrome. (22436238)
2012
2
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. (21834047)
2011
3
Sotos syndrome, failure to thrive and parotitis. (22715272)
2011
4
A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy? (22679258)
2011
5
Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome. (21738022)
2011
6
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. (19844260)
2010
7
A clinical study of Sotos syndrome patients with review of the literature. (19380072)
2009
8
Hepatoblastoma in a patient with sotos syndrome. (19914434)
2009
9
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene. (18042263)
2008
10
Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature]. (18381056)
2008
11
Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients. (17561922)
2007
12
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. (17090394)
2007
13
Dentofacial growth in patients with Sotos syndrome. (17978548)
2007
14
Sotos syndrome. (16969376)
2007
15
A case of Sotos syndrome with subduroperitoneal shunt. (16636621)
2006
16
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. (16547423)
2006
17
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions. (16272258)
2005
18
Low factor XII level in an individual with Sotos syndrome. (15390361)
2005
19
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. (16170239)
2005
20
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. (15805156)
2005
21
Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature. (15125616)
2004
22
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (14997421)
2004
23
Clinical features of NSD1-positive Sotos syndrome. (15365454)
2004
24
Genetics of Sotos syndrome. (14631206)
2003
25
Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. (12613773)
2003
26
Total cavopulmonary connection in a bedridden patient with Sotos syndrome. (14681097)
2003
27
Sotos syndrome (cerebral gigantism): analysis of 8 cases. (12068351)
2002
28
Aggressive behavior in patients with Sotos syndrome. (10669209)
2000
29
Neuroimaging and echocardiographic findings in Sotos syndrome. (10706367)
2000
30
Cancer in Sotos syndrome. (10523244)
1999
31
Growth in Sotos syndrome. (10086939)
1999
32
The neuroimaging findings in Sotos syndrome. (9021022)
1997
33
No evidence for uniparental disomy as a common cause of Sotos syndrome. (9032642)
1997
34
Sotos syndrome with septo-optic dysplasia. (8910820)
1996
35
Congenital urological anomalies in Sotos syndrome. (8795429)
1996
36
Normal growth, despite renal failure, in a child with Sotos syndrome. (7720753)
1995
37
Cerebral gigantism (Sotos' syndrome). A rare cause of delayed walking and awkward gait. (7562459)
1995
38
Familial Sotos syndrome: longitudinal study of two additional cases. (7917124)
1994
39
Sotos Syndrome (20301652)
1993
40
Posterior spinal fusion in Sotos' syndrome. (2064891)
1991
41
Autistic disorder in Sotos syndrome: a case report. (2347353)
1990
42
Neuroblastoma in a patient with Sotos' syndrome. (2319581)
1990
43
Excessive head growth in early infancy: a feature of Sotos' syndrome. (3667195)
1987
44
Recurrent giant cell granuloma occurring in the mandible of a patient on high dose estrogen therapy for the treatment of Sotos' syndrome. (3480341)
1987
45
Metacarpophalangeal pattern profile analysis in Sotos syndrome. (3993685)
1985
46
Sotos syndrome--autosomal dominant inheritance substantiated. (4064361)
1985
47
Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. (4043122)
1985
48
Retinal degeneration in Sotos' syndrome. (7085334)
1982
49
Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration. (7410107)
1980
50
Sotos' syndrome: hypertelorism, antimongoloid slant of eye, and high arched palate complex. (5286158)
1971

Genetic Variations for Sotos Syndrome

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Expression for genes affiliated with Sotos Syndrome

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

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Pathways for genes affiliated with Sotos Syndrome

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53Reactome
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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

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44Novoseek, 28IUPHAR
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Compounds related to Sotos Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lanreotide44 2811.2IGFBP3, SSTR4

GO Terms for genes affiliated with Sotos Syndrome

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet