MCID: STS001
MIFTS: 50

Sotos Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Cancer diseases categories
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Summaries for Sotos Syndrome

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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 based summary: Sotos Syndrome, also known as cerebral gigantism, is related to beckwith-wiedemann syndrome and mental retardation, and has symptoms including An important gene associated with Sotos Syndrome is NSD1 (nuclear receptor binding SET domain protein 1). The compounds 1,25 dihydroxy vitamin d3 and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related mouse phenotype growth/size/body.

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

Descriptions from OMIM:46 601451,117550

GeneReviews summary for sotos

Aliases & Classifications for Sotos Syndrome

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Sotos Syndrome, Aliases & Descriptions:

Name: Sotos Syndrome 8 19 42 20 22 21 43 10 44
Cerebral Gigantism 8 19 42 21 43 62
Sotos' Syndrome 21 62
 
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 42
Sotos Sequence 21


Classifications:



External Ids:

Disease Ontology8 DOID:14748
MeSH34 D058495
SNOMED-CT57 75968004
NCIt39 C75019

Related Diseases for Sotos Syndrome

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Graphical network of the top 20 diseases related to Sotos Syndrome:



Diseases related to sotos syndrome

Symptoms for Sotos Syndrome

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Clinical features from OMIM:

601451,117550

HPO human phenotypes related to Sotos Syndrome:

id Description Frequency HPO Source Accession
1 tall stature HP:0000098
2 macrocephaly HP:0000256
3 mandibular prognathia HP:0000303
4 intellectual disability HP:0001249
5 accelerated skeletal maturation HP:0005616

Drugs & Therapeutics for Sotos Syndrome

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Drug clinical trials:

Search ClinicalTrials for Sotos Syndrome

Search NIH Clinical Center for Sotos Syndrome

Genetic Tests for Sotos Syndrome

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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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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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MGI Mouse Phenotypes related to Sotos Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4SLC34A1, NFIX, GPC3, IGFBP3

Publications for Sotos Syndrome

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Articles related to Sotos Syndrome:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Low grade glioma in an adult patient with Sotos syndrome. (25304431)
2014
2
Sotos syndrome 1 and 2. (25345081)
2014
3
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions. (24670087)
2014
4
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. (23369838)
2013
5
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
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
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. (21597970)
2011
8
Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up. (21225435)
2011
9
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. (22012791)
2011
10
Sotos syndrome, failure to thrive and parotitis. (22715272)
2011
11
Left ventricular noncompaction in Sotos syndrome. (21484993)
2011
12
Supernumerary teeth and dental management in Sotos syndrome. (19941770)
2009
13
A clinical study of Sotos syndrome patients with review of the literature. (19380072)
2009
14
Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients. (17561922)
2007
15
Atypical retinoblastoma in Sotos syndrome (cerebral gigantism). (17420391)
2007
16
A case of Sotos syndrome with subduroperitoneal shunt. (16636621)
2006
17
Sotos syndrome: a case report. (17472042)
2006
18
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. (16547423)
2006
19
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. (15720303)
2005
20
Speech-language characteristics of children with Sotos syndrome. (16001444)
2005
21
Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions. (16272258)
2005
22
Low factor XII level in an individual with Sotos syndrome. (15390361)
2005
23
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. (16140999)
2005
24
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. (16247291)
2005
25
Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature. (15125616)
2004
26
Molecular basis of Sotos syndrome. (15539801)
2004
27
Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. (15362962)
2004
28
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (12525543)
2003
29
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (12464997)
2003
30
Identification of eight novel NSD1 mutations in Sotos syndrome. (14627693)
2003
31
Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. (11942428)
2002
32
Bilateral calcified ovarian fibromas in a patient with Sotos syndrome. (12057743)
2002
33
Perinatal imaging findings of inherited Sotos syndrome. (12378571)
2002
34
Sotos syndrome: two cases with severe scoliosis. (12002142)
2002
35
Fibroma of the left ventricle in a patient with Sotos syndrome. (11360878)
2001
36
Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. (10690261)
1999
37
Testicular yolk sac tumour in a patient with Sotos syndrome. (10233517)
1999
38
Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome). (9522351)
1998
39
Reply to "lymphoproliferative disorders in Sotos syndrome: observation in two cases". (9450893)
1998
40
Congenital heart defects in Sotos syndrome. (9781915)
1998
41
Lymphoproliferative disorders in Sotos syndrome: observation of two cases. (8870927)
1996
42
Sotos syndrome with septo-optic dysplasia. (8910820)
1996
43
Normal growth, despite renal failure, in a child with Sotos syndrome. (7720753)
1995
44
Growth hormone hypersecretion in Sotos' syndrome? (8477173)
1993
45
Sotos syndrome. (2231650)
1990
46
Autistic disorder in Sotos syndrome: a case report. (2347353)
1990
47
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. (7449178)
1980
48
Sotos syndrome in two brothers. (7449180)
1980
49
Cerebral gigantism (Sotos' syndrome) and cataracts. (216789)
1978
50
Picture of the month. Cerebral gigantism (Sotos syndrome). (855844)
1977

Variations for Sotos Syndrome

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Clinvar genetic disease variations for Sotos Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NSD1NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter)single nucleotide variantPathogenicrs121908067GRCh37Chr 5, 176636710: 176636710
2NSD1NM_022455.4(NSD1): c.6429C> G (p.His2143Gln)single nucleotide variantPathogenicrs121908068GRCh37Chr 5, 176719125: 176719125
3NSD1NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser)single nucleotide variantPathogenicrs121908069GRCh37Chr 5, 176720917: 176720917
4NSD1NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter)single nucleotide variantPathogenicrs121908070GRCh37Chr 5, 176665274: 176665274
5NSD1NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr)single nucleotide variantPathogenicrs121908071GRCh37Chr 5, 176720974: 176720974

Expression for genes affiliated with Sotos Syndrome

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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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Compounds for genes affiliated with Sotos Syndrome

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Sources:
44Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank
See all sources

Compounds related to Sotos Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
11,25 dihydroxy vitamin d3449.3SLC34A1, IGFBP3
2vitamin d449.3SLC34A1, IGFBP3
35-aza-2deoxycytidine449.2GPC3, IGFBP3
4calcitriol44 61 24 1112.0SLC34A1, IGFBP3

GO Terms for genes affiliated with Sotos Syndrome

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Products for genes affiliated with Sotos Syndrome

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet