SOTOS
MCID: STS001
MIFTS: 61

Sotos Syndrome (SOTOS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Sotos Syndrome

MalaCards integrated aliases for Sotos Syndrome:

Name: Sotos Syndrome 57 11 24 19 42 52 58 75 73 28 12 53 5 43 14 38
Cerebral Gigantism 57 11 19 42 58 75 73 5
Chromosome 5q35 Deletion Syndrome 57 73
Sotos 57 73
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 19
Sotos Syndrome 1, Formerly 57
Sotos1, Formerly 57
Sotos Syndrome 1 73
Sotos' Syndrome 42
Sotos Sequence 42
Sotos1 73

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

1-9/1000000 (Europe, Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases are sporadic
de novo mutation
few familial (parent offspring) cases reported
slight increased risk for malignancy


GeneReviews:

24
Penetrance Nsd1 molecular testing is now routinely undertaken in diagnostic genetic laboratories. to date, no unaffected parent or sib with an nsd1 pathogenic variant has been reported [douglas et al 2003, rio et al 2003, türkmen et al 2003, tatton-brown et al 2005b]. thus, sotos syndrome appears to be a fully penetrant condition....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:14748
OMIM® 57 117550
MeSH 43 D058495
NCIt 49 C75019
SNOMED-CT 68 75968004
ICD10 31 Q87.3
MESH via Orphanet 44 D058495
ICD10 via Orphanet 32 Q87.3
UMLS via Orphanet 72 C0175695
Orphanet 58 ORPHA821
UMLS 71 C0175695

Summaries for Sotos Syndrome

MedlinePlus Genetics: 42 Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. 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. However, adult height is usually in the normal range.People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have a stutter, a monotone voice, and problems with sound production. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding.A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have an increased cancer risk, it is only slightly greater than that of the general population.

MalaCards based summary: Sotos Syndrome, also known as cerebral gigantism, is related to sotos syndrome 1 and sotos syndrome 3, and has symptoms including seizures An important gene associated with Sotos Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Myometrial relaxation and contraction pathways and Development IGF-1 receptor signaling. Affiliated tissues include bone, eye and kidney, and related phenotypes are coarse facial features and tall stature

NINDS: 52 Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.  It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild cognitive impairment; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.

GARD: 19 Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a genetic change in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new genetic change in the affected person and occur sporadically (are not inherited).

OMIM®: 57 Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by Kurotaki et al., 2002). Weaver syndrome (277590), which shows considerable phenotypic overlap with Sotos syndrome, has been shown to be caused by mutation in the EZH2 gene (601573) on chromosome 7q36. (117550) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant, childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, intellectual disability, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.

Orphanet: 58 A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.

Disease Ontology: 11 A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

Wikipedia: 75 Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first... more...

GeneReviews: NBK1479

Related Diseases for Sotos Syndrome

Diseases in the Sotos Syndrome family:

Sotos Syndrome 2 Sotos Syndrome 1
Sotos Syndrome 3

Diseases related to Sotos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 311)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 33.0 SCN4A NSD1 GPC3 GH-LCR
2 sotos syndrome 3 33.0 NSD1 APC2
3 weaver syndrome 32.6 ZNF496 SETD2 NSD1 GPC3
4 acromegaly 31.7 IGFBP3 IGFBP2 IGF2 IGF1 GPC3
5 beckwith-wiedemann syndrome 31.2 NSD1 IGF2 IGF1 GPC3
6 hypoglycemia 30.9 IGFBP3 IGFBP2 IGF2 IGF1 GLUD1
7 hyperinsulinism 30.5 IGFBP3 IGFBP2 IGF2 IGF1 GLUD1
8 silver-russell syndrome 1 30.3 IGFBP3 IGF2 IGF1
9 turner syndrome 30.3 IGFBP3 IGF2 IGF1
10 type 1 diabetes mellitus 30.1 IGFBP3 IGFBP2 IGF2 IGF1
11 sotos syndrome 2 11.6
12 malan syndrome 11.3
13 intellectual developmental disorder, autosomal recessive 74 11.2
14 vasquez hurst sotos syndrome 11.2
15 deletion 5q35 11.0
16 overgrowth syndrome 10.9
17 learning disability 10.6
18 scoliosis 10.5
19 retroperitoneal hemangiopericytoma 10.5 IGF2 IGF1
20 secondary hypertrophic osteoarthropathy 10.4 IGF2 IGF1
21 fetal macrosomia 10.4 IGFBP3 IGF2 IGF1
22 acid-labile subunit deficiency 10.4 IGFBP3 IGF2 IGF1
23 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 IGFBP3 IGF1
24 tremor, hereditary essential, 6 10.4 SCN4A GH-LCR
25 three m syndrome 1 10.4 IGFBP3 IGF2 IGF1
26 omphalocele 10.4 NSD1 IGF2 GPC3
27 islet cell tumor 10.4 IGFBP3 IGF2 IGF1
28 androgen insensitivity syndrome 10.4 IGFBP3 IGFBP2 IGF2
29 laron syndrome 10.4 IGFBP3 IGFBP2 IGF2 IGF1
30 hyperpituitarism 10.4 SSTR4 IGFBP3 IGF2 IGF1
31 hypotonia 10.4
32 hypokalemic periodic paralysis, type 2 10.4 SCN4A GH-LCR
33 myotonia, potassium-aggravated 10.4 SCN4A GH-LCR
34 hyperandrogenism 10.4 IGFBP3 IGF2 IGF1
35 renal osteodystrophy 10.4 IGFBP6 IGFBP4 IGFBP3 IGFBP2 IGF1
36 polycystic ovary syndrome 10.4 IGFBP4 IGFBP3 IGFBP2 IGF2 IGF1
37 pituitary gland disease 10.4 SSTR4 IGFBP3 IGF1
38 embryonal rhabdomyosarcoma 10.4 IGF2 IGF1 FGFR4
39 lymphangioleiomyomatosis 10.4 IGFBP2 IGF2 IGF1
40 insulin-like growth factor i 10.4 IGFBP6 IGFBP4 IGFBP3 IGFBP2 IGF2 IGF1
41 potter's syndrome 10.4 IGF2 IGF1
42 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
43 myasthenic syndrome, congenital, 16 10.3 SCN4A GH-LCR
44 isolated growth hormone deficiency, type ia 10.3 IGFBP3 IGF1 GH-LCR
45 marasmus 10.3 IGFBP3 IGF1
46 hypertelorism 10.3
47 osteogenic sarcoma 10.3 IGFBP6 IGFBP4 IGF2 IGF1
48 osteoporosis 10.3 SLC34A1 IGFBP4 IGFBP3 IGFBP2 IGF2 IGF1
49 rhabdomyosarcoma 10.3 IGFBP6 IGFBP3 IGFBP2 IGF2 IGF1 GPC3
50 pituitary adenoma 1, multiple types 10.3 IGFBP3 IGF1

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



Diseases related to Sotos Syndrome

Symptoms & Phenotypes for Sotos Syndrome

Human phenotypes related to Sotos Syndrome:

58 30 (show top 50) (show all 148)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
2 tall stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000098
3 increased arm span 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012771
4 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
5 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
6 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
7 global developmental delay 58 30 Very rare (1%) Frequent (79-30%)
HP:0001263
8 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
9 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
10 prominent forehead 58 30 Very rare (1%) Frequent (79-30%)
HP:0011220
11 joint laxity 58 30 Very rare (1%) Frequent (79-30%)
HP:0001388
12 narrow face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000275
13 dolichocephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000268
14 downslanted palpebral fissures 58 30 Very rare (1%) Frequent (79-30%)
HP:0000494
15 long face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000276
16 accelerated skeletal maturation 58 30 Very rare (1%) Frequent (79-30%)
HP:0005616
17 prolonged neonatal jaundice 58 30 Very rare (1%) Frequent (79-30%)
HP:0006579
18 astigmatism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000483
19 feeding difficulties 58 30 Very rare (1%) Frequent (79-30%)
HP:0011968
20 brain imaging abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0410263
21 tall chin 58 30 Frequent (33%) Frequent (79-30%)
HP:0400000
22 flushing 58 30 Frequent (33%) Frequent (79-30%)
HP:0031284
23 sparse anterior scalp hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0004768
24 macrocephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000256
25 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
26 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
27 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
28 gastroesophageal reflux 58 30 Very rare (1%) Occasional (29-5%)
HP:0002020
29 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
30 intellectual disability, severe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010864
31 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
32 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
33 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
34 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
35 ventriculomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0002119
36 intellectual disability, moderate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002342
37 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
38 large hands 58 30 Very rare (1%) Occasional (29-5%)
HP:0001176
39 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
40 bilateral tonic-clonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002069
41 cerebral atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002059
42 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
43 cerebellar vermis hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001320
44 aortic aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004942
45 aggressive behavior 58 30 Very rare (1%) Occasional (29-5%)
HP:0000718
46 pedal edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010741
47 focal impaired awareness seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002384
48 enlarged cisterna magna 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002280
49 dyscalculia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002442
50 poor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002370

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Face:
frontal bossing
pointed chin
prognathism

Skeletal Feet:
pes planus
large feet

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Head And Neck Ears:
otitis media
conductive hearing loss

Skeletal:
advanced bone age

Growth Height:
mean full term birth length 55.2cm
length at or greater than 97th percentile through early adolescence
adult height often normal
mean male adult height 184.3cm
mean female adult height 172.9cm

Growth Other:
birth length often more increased than weight

Skin Nails Hair Nails:
thin brittle fingernails

Neoplasia:
wilms tumor

Neurologic Central Nervous System:
hyperreflexia
neonatal hypotonia
ventriculomegaly
expressive language delay
poor coordination
more
Head And Neck Eyes:
nystagmus
strabismus
downslanting palpebral fissures
hyperopia

Skeletal Limbs:
genu valgum
joint laxity
long arm span

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Hands:
large hands
disharmonic maturation of phalanges and carpal bones

Head And Neck Mouth:
high arched palate

Growth Weight:
mean full term birth weight 3.9kg

Head And Neck Teeth:
premature tooth eruption
tooth agenesis, first and second premolars

Skin Nails Hair Hair:
sparse hair in frontoparietal area

Clinical features from OMIM®:

117550 (Updated 08-Dec-2022)

UMLS symptoms related to Sotos Syndrome:


seizures

MGI Mouse Phenotypes related to Sotos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.44 APC2 FGFR4 GLUD1 GPC3 IGF1 IGF2

Drugs & Therapeutics for Sotos Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Body Representation, Neuropsychological Profile and Socio-emotional Development in Children With Overgrowth Syndromes, With a Specific Focus on Functional Assessment of Patients With Beckwith-Wiedemann Syndrome and Sotos Syndrome Recruiting NCT04993235

Search NIH Clinical Center for Sotos Syndrome

Cochrane evidence based reviews: sotos syndrome

Genetic Tests for Sotos Syndrome

Genetic tests related to Sotos Syndrome:

# Genetic test Affiliating Genes
1 Sotos Syndrome 28

Anatomical Context for Sotos Syndrome

Organs/tissues related to Sotos Syndrome:

MalaCards : Bone, Eye, Kidney, Heart, Skin, Brain, Testis
ODiseA: Kidney

Publications for Sotos Syndrome

Articles related to Sotos Syndrome:

(show top 50) (show all 638)
# Title Authors PMID Year
1
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 53 62 24 57 5
15942875 2005
2
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 53 62 24 57 5
14997421 2004
3
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 53 62 24 57 5
14571271 2003
4
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 53 62 24 57 5
12464997 2003
5
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 53 62 57 5
16329110 2006
6
Familial gigantism caused by an NSD1 mutation. 53 62 57 5
16222665 2005
7
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 53 62 57 5
15720303 2005
8
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. 53 62 57 5
12525543 2003
9
Haploinsufficiency of NSD1 causes Sotos syndrome. 53 62 57 5
11896389 2002
10
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 53 62 24 5
16247291 2005
11
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 53 62 24 5
12807965 2003
12
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. 62 24 57
14517949 2003
13
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. 62 24 57
10766982 2000
14
Sotos syndrome: evolution of facial phenotype subjective and objective assessment. 62 24 57
8914735 1996
15
Sotos syndrome: a study of the diagnostic criteria and natural history. 62 24 57
7512144 1994
16
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24 5
25741868 2015
17
Two cases of Sotos syndrome with novel mutations of the NSD1 gene. 53 62 57
20420030 2010
18
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. 53 62 5
20018718 2009
19
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 53 62 57
19876911 2009
20
Alu-related 5q35 microdeletions in Sotos syndrome. 53 62 5
18505455 2008
21
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. 53 62 5
17565729 2007
22
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 53 62 5
16232326 2005
23
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 53 62 5
15742365 2005
24
Evaluation of NSD2 and NSD3 in overgrowth syndromes. 53 62 57
15483650 2005
25
Genotype-phenotype correlation in patients suspected of having Sotos syndrome. 53 62 5
15452385 2004
26
Identification of eight novel NSD1 mutations in Sotos syndrome. 53 62 5
14627693 2003
27
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. 62 57
30719864 2019
28
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. 62 5
27834868 2016
29
Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome. 62 5
26896805 2016
30
NSD1 mutations generate a genome-wide DNA methylation signature. 62 5
26690673 2015
31
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. 62 5
25608832 2015
32
Neuroimaging and clinical characterization of Sotos syndrome. 62 5
26043501 2015
33
Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1. 62 5
24412544 2014
34
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. 62 5
22924495 2012
35
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. 62 57
22012791 2011
36
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. 62 5
21834047 2011
37
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. 62 5
21597970 2011
38
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. 53 62 24
18001468 2007
39
Sotos syndrome. 53 62 24
16969376 2007
40
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. 53 62 24
16780628 2006
41
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. 53 62 24
16188863 2005
42
NSD1 mutations in Sotos syndrome. 53 62 24
16010675 2005
43
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. 62 57
15640245 2005
44
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. 62 5
15580547 2005
45
Clinical features of NSD1-positive Sotos syndrome. 53 62 24
15365454 2004
46
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. 62 5
12676901 2003
47
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). 62 57
11807869 2002
48
Sacrococcygeal teratoma in two cases of Sotos syndrome. 62 57
11078573 2000
49
Gastric carcinoma in Sotos syndrome (cerebral gigantism). 62 57
10434127 1999
50
Sotos syndrome and cutis laxa. 62 57
9950366 1999

Variations for Sotos Syndrome

ClinVar genetic disease variations for Sotos Syndrome:

5 (show top 50) (show all 828)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 40 genes GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 CN LOSS Pathogenic
975831 GRCh37: 5:175346695-177469711
GRCh38:
2 NSD1 NC_000005.10:g.(?_177135094)_(177295469_?)del DEL Pathogenic
652389 GRCh37: 5:176562095-176722470
GRCh38: 5:177135094-177295469
3 NSD1 NC_000005.9:g.(?_176638041)_(176722460_?)del DEL Pathogenic
1459855 GRCh37: 5:176638041-176722460
GRCh38:
4 NSD1 NC_000005.10:g.(?_177288799)_(177288945_?)del DEL Pathogenic
832417 GRCh37: 5:176715800-176715946
GRCh38:
5 NSD1 NC_000005.10:g.(?_177235801)_(177239885_?)del DEL Pathogenic
583767 GRCh37: 5:176662802-176666886
GRCh38: 5:177235801-177239885
6 NSD1 NM_022455.4(NSD1):c.5408_5411delACTAins9 INDEL Pathogenic
211735 GRCh37: 5:176696707-176696710
GRCh38: 5:177269706-177269709
7 NSD1 NC_000005.10:g.(?_177280545)_(177283948_?)del DEL Pathogenic
453988 GRCh37: 5:176707546-176710949
GRCh38: 5:177280545-177283948
8 NSD1 NM_022455.4(NSD1):c.(?_-138)_(7458_?)del DEL Pathogenic
211716 GRCh37:
GRCh38:
9 NSD1 NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) SNV Pathogenic
159271 rs587784076 GRCh37: 5:176637210-176637210
GRCh38: 5:177210209-177210209
10 NSD1 NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) SNV Pathogenic
159273 rs587784077 GRCh37: 5:176637231-176637231
GRCh38: 5:177210230-177210230
11 NSD1 NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs) DEL Pathogenic
159275 rs587784078 GRCh37: 5:176637411-176637415
GRCh38: 5:177210410-177210414
12 NSD1 NM_022455.5(NSD1):c.2048del (p.Lys683fs) DEL Pathogenic
159276 rs587784079 GRCh37: 5:176637445-176637445
GRCh38: 5:177210444-177210444
13 NSD1 NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) DEL Pathogenic
159277 rs587784080 GRCh37: 5:176637447-176637451
GRCh38: 5:177210446-177210450
14 NSD1 NM_022455.5(NSD1):c.2064del (p.Arg688fs) DEL Pathogenic
159278 rs587784081 GRCh37: 5:176637463-176637463
GRCh38: 5:177210462-177210462
15 NSD1 NM_022455.5(NSD1):c.2124_2127del (p.His708fs) DEL Pathogenic
159280 rs587784082 GRCh37: 5:176637521-176637524
GRCh38: 5:177210520-177210523
16 NSD1 NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) SNV Pathogenic
159283 rs587784084 GRCh37: 5:176637676-176637676
GRCh38: 5:177210675-177210675
17 NSD1 NM_022455.5(NSD1):c.2295del (p.Ser766fs) DEL Pathogenic
159285 rs587784085 GRCh37: 5:176637695-176637695
GRCh38: 5:177210694-177210694
18 NSD1 NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) SNV Pathogenic
159286 rs201327209 GRCh37: 5:176637739-176637739
GRCh38: 5:177210738-177210738
19 NSD1 NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) DEL Pathogenic
159287 rs587784086 GRCh37: 5:176637783-176637786
GRCh38: 5:177210782-177210785
20 NSD1 NM_022455.5(NSD1):c.2639del (p.Gly880fs) DEL Pathogenic
159288 rs587784087 GRCh37: 5:176638038-176638038
GRCh38: 5:177211037-177211037
21 NSD1 NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) SNV Pathogenic
159289 rs587784088 GRCh37: 5:176638054-176638054
GRCh38: 5:177211053-177211053
22 NSD1 NM_022455.5(NSD1):c.2827del (p.Asp943fs) DEL Pathogenic
159291 rs587784089 GRCh37: 5:176638224-176638224
GRCh38: 5:177211223-177211223
23 NSD1 NM_022455.5(NSD1):c.2956del (p.Ala986fs) DEL Pathogenic
159295 rs587784093 GRCh37: 5:176638356-176638356
GRCh38: 5:177211355-177211355
24 NSD1 NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) MICROSAT Pathogenic
159297 rs587784094 GRCh37: 5:176638443-176638444
GRCh38: 5:177211442-177211443
25 NSD1 NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) SNV Pathogenic
159298 rs587784095 GRCh37: 5:176638467-176638467
GRCh38: 5:177211466-177211466
26 NSD1 NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) SNV Pathogenic
159300 rs587784096 GRCh37: 5:176638491-176638491
GRCh38: 5:177211490-177211490
27 NSD1 NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs) MICROSAT Pathogenic
159302 rs587784097 GRCh37: 5:176638582-176638583
GRCh38: 5:177211581-177211582
28 NSD1 NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) SNV Pathogenic
159303 rs587784098 GRCh37: 5:176638614-176638614
GRCh38: 5:177211613-177211613
29 NSD1 NM_022455.5(NSD1):c.3293del (p.Thr1098fs) DEL Pathogenic
159305 rs587784099 GRCh37: 5:176638693-176638693
GRCh38: 5:177211692-177211692
30 NSD1 NM_022455.5(NSD1):c.3295del (p.Ser1099fs) DEL Pathogenic
159306 rs587784100 GRCh37: 5:176638694-176638694
GRCh38: 5:177211693-177211693
31 NSD1 NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) MICROSAT Pathogenic
159307 rs587784101 GRCh37: 5:176638779-176638780
GRCh38: 5:177211778-177211779
32 NSD1 NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs) DEL Pathogenic
159311 rs587784103 GRCh37: 5:176638978-176638982
GRCh38: 5:177211977-177211981
33 NSD1 NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) MICROSAT Pathogenic
159312 rs587784104 GRCh37: 5:176639057-176639058
GRCh38: 5:177212056-177212057
34 NSD1 NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) SNV Pathogenic
Pathogenic
4143 rs121908070 GRCh37: 5:176665274-176665274
GRCh38: 5:177238273-177238273
35 NSD1 NM_022455.5(NSD1):c.1077del (p.Arg359fs) DEL Pathogenic
159258 rs587784068 GRCh37: 5:176631133-176631133
GRCh38: 5:177204132-177204132
36 NSD1 NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) SNV Pathogenic
159263 rs587784071 GRCh37: 5:176636662-176636662
GRCh38: 5:177209661-177209661
37 NSD1 NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) SNV Pathogenic
159320 rs587784109 GRCh37: 5:176665373-176665373
GRCh38: 5:177238372-177238372
38 NSD1 NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) SNV Pathogenic
159322 rs587784110 GRCh37: 5:176665392-176665392
GRCh38: 5:177238391-177238391
39 NSD1 NM_022455.5(NSD1):c.4301del (p.Lys1434fs) DEL Pathogenic
159324 rs587784112 GRCh37: 5:176666861-176666861
GRCh38: 5:177239860-177239860
40 NSD1 NM_022455.5(NSD1):c.4376del (p.Gly1459fs) DEL Pathogenic
159327 rs587784114 GRCh37: 5:176671268-176671268
GRCh38: 5:177244267-177244267
41 NSD1 NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) SNV Pathogenic
159330 rs570278338 GRCh37: 5:176673711-176673711
GRCh38: 5:177246710-177246710
42 NSD1 NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) SNV Pathogenic
159331 rs587784117 GRCh37: 5:176673717-176673717
GRCh38: 5:177246716-177246716
43 NSD1 NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) SNV Pathogenic
159332 rs587784118 GRCh37: 5:176673744-176673744
GRCh38: 5:177246743-177246743
44 NSD1 NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) SNV Pathogenic
159333 rs587784119 GRCh37: 5:176673793-176673793
GRCh38: 5:177246792-177246792
45 NSD1 NM_022455.5(NSD1):c.4529del (p.Ser1510fs) DEL Pathogenic
159336 rs587784121 GRCh37: 5:176675213-176675213
GRCh38: 5:177248212-177248212
46 NSD1 NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) SNV Pathogenic
159340 rs587784122 GRCh37: 5:176678770-176678770
GRCh38: 5:177251769-177251769
47 NSD1 NM_022455.5(NSD1):c.4705del (p.Glu1569fs) DEL Pathogenic
159341 rs587784123 GRCh37: 5:176678793-176678793
GRCh38: 5:177251792-177251792
48 NSD1 NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs) DEL Pathogenic
159342 rs587784124 GRCh37: 5:176678820-176678821
GRCh38: 5:177251819-177251820
49 NSD1 NM_022455.5(NSD1):c.4745del (p.Ile1582fs) DEL Pathogenic
159343 rs587784125 GRCh37: 5:176678834-176678834
GRCh38: 5:177251833-177251833
50 NSD1 NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) SNV Pathogenic
159344 rs587784126 GRCh37: 5:176678842-176678842
GRCh38: 5:177251841-177251841

UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 NSD1 p.His1616Leu VAR_015780
2 NSD1 p.Leu1637Pro VAR_015781
3 NSD1 p.Cys1674Trp VAR_015782
4 NSD1 p.Ile1687Asn VAR_015783
5 NSD1 p.Gly1792Val VAR_015784
6 NSD1 p.Cys1925Arg VAR_015785
7 NSD1 p.Gly1955Asp VAR_015786
8 NSD1 p.Arg1984Gln VAR_015787 rs587784169
9 NSD1 p.Tyr1997Cys VAR_015788 rs797045825
10 NSD1 p.Arg2005Gln VAR_015789 rs587784174
11 NSD1 p.Arg2017Gln VAR_015790 rs587784177
12 NSD1 p.Arg2017Trp VAR_015791 rs587784176
13 NSD1 p.His2143Gln VAR_015792 rs121908068
14 NSD1 p.Cys2183Ser VAR_015793 rs121908069

Copy number variations for Sotos Syndrome from CNVD:

6 (show all 39)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 133687 19 6900000 12600000 Deletion ANGPTL6 Sotos syndrome
2 133688 19 6900000 12600000 Deletion C19orf38 Sotos syndrome
3 133689 19 6900000 12600000 Deletion C3P1 Sotos syndrome
4 133690 19 6900000 12600000 Deletion CARM1 Sotos syndrome
5 133691 19 6900000 12600000 Deletion COL5A3 Sotos syndrome
6 133692 19 6900000 12600000 Deletion DNM2 Sotos syndrome
7 133693 19 6900000 12600000 Deletion DNMT1 Sotos syndrome
8 133694 19 6900000 12600000 Deletion EIF3G Sotos syndrome
9 133695 19 6900000 12600000 Deletion ILF3 Sotos syndrome
10 133696 19 6900000 12600000 Deletion OLFM2 Sotos syndrome
11 133697 19 6900000 12600000 Deletion OR7D2 Sotos syndrome
12 133698 19 6900000 12600000 Deletion P2RY11 Sotos syndrome
13 133699 19 6900000 12600000 Deletion PPAN Sotos syndrome
14 133700 19 6900000 12600000 Deletion QTRT1 Sotos syndrome
15 133701 19 6900000 12600000 Deletion RDH8 Sotos syndrome
16 133702 19 6900000 12600000 Deletion S1PR2 Sotos syndrome
17 133703 19 6900000 12600000 Deletion SMARCA4 Sotos syndrome
18 133704 19 6900000 12600000 Deletion TMED1 Sotos syndrome
19 133705 19 6900000 12600000 Deletion YIPF2 Sotos syndrome
20 133706 19 6900000 12600000 Deletion ZNF177 Sotos syndrome
21 133707 19 6900000 12600000 Deletion ZNF317 Sotos syndrome
22 133708 19 6900000 12600000 Deletion ZNF559 Sotos syndrome
23 133709 19 6900000 12600000 Deletion ZNF561 Sotos syndrome
24 133710 19 6900000 12600000 Deletion ZNF699 Sotos syndrome
25 133711 19 6900000 12600000 Deletion ZNF846 Sotos syndrome
26 133713 19 6900000 12600000 Duplication FDX2 Sotos syndrome
27 133714 6 39124534 39163498 Duplication GLP1R Sotos syndrome
28 133715 19 6900000 12600000 Duplication ICAM3 Sotos syndrome
29 133716 19 6900000 12600000 Duplication ICAM5 Sotos syndrome
30 133717 19 6900000 12600000 Duplication RAVER1 Sotos syndrome
31 133718 19 6900000 12600000 Duplication TYK2 Sotos syndrome
32 133719 19 6900000 12600000 Duplication ZGLP1 Sotos syndrome
33 196450 5 167400000 180857866 Copy number NSD1 Sotos syndrome
34 196452 5 167400000 180857866 Deletion NSD1 Sotos syndrome
35 196453 5 167400000 180857866 Deletion NSD1 Sotos syndrome
36 196455 5 167400000 180857866 Microdeletion Sotos syndrome
37 197303 5 176492685 176659820 Copy number NSD1 Sotos syndrome
38 197314 5 176500000 180857866 Copy number NSD1 Sotos syndrome
39 197316 5 176500000 180857866 Deletion Sotos syndrome

Expression for Sotos Syndrome

Search GEO for disease gene expression data for Sotos Syndrome.

Pathways for Sotos Syndrome

Pathways related to Sotos Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 IGFBP6 IGFBP4 IGFBP3 IGFBP2
2
Show member pathways
11.7 IGFBP6 IGFBP4 IGFBP3 IGFBP2 IGF2 IGF1
3
Show member pathways
11.53 IGFBP6 IGFBP4 IGFBP3 IGFBP2 IGF2 IGF1
4 11.23 SETD2 NSD1 FGFR4
5 11.12 IGFBP4 IGF2 IGF1

GO Terms for Sotos Syndrome

Cellular components related to Sotos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor ternary complex GO:0042567 9.26 IGFBP3 IGF1
2 insulin-like growth factor binding protein complex GO:0016942 8.92 IGFBP3 IGF1

Biological processes related to Sotos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 10.13 SSTR4 IGFBP6 GPC3 FGFR4 APC2
2 positive regulation of MAPK cascade GO:0043410 10.02 IGFBP6 IGFBP4 IGFBP3 IGF2 IGF1
3 positive regulation of activated T cell proliferation GO:0042104 9.85 IGFBP2 IGF2 IGF1
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.85 APC2 GPC3 IGFBP2 IGFBP4 IGFBP6
5 embryonic placenta morphogenesis GO:0060669 9.76 SETD2 IGF2
6 tricarboxylic acid metabolic process GO:0072350 9.71 SLC34A1 GLUD1
7 regulation of growth GO:0040008 9.43 IGFBP4 IGFBP3 GPC3
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 IGFBP4 IGFBP3 IGF1
9 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.23 IGFBP2 IGFBP3 IGFBP4 IGFBP6

Molecular functions related to Sotos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor I binding GO:0031994 9.76 IGFBP6 IGFBP4 IGFBP3 IGFBP2
2 histone H3K36 methyltransferase activity GO:0046975 9.62 SETD2 NSD1
3 growth factor binding GO:0019838 9.56 IGFBP6 IGFBP4 IGFBP3 IGFBP2
4 insulin-like growth factor binding GO:0005520 9.35 IGFBP6 IGFBP4 IGFBP3 IGFBP2
5 insulin-like growth factor II binding GO:0031995 9.23 IGFBP6 IGFBP4 IGFBP3 IGFBP2

Sources for Sotos Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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