SOTOS1
MCID: STS008
MIFTS: 62

Sotos Syndrome 1 (SOTOS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Sotos Syndrome 1

MalaCards integrated aliases for Sotos Syndrome 1:

Name: Sotos Syndrome 1 57 12 72 29 13 6
Sotos Syndrome 57 12 73 25 20 43 53 58 72 36 29 54 6 44 15 39
Cerebral Gigantism 57 12 73 20 43 53 58 72
Sotos1 57 12 72
Chromosome 5q35 Deletion Syndrome 57 72
Sotos' Syndrome 43 70
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 20
Sotos Syndrome, Type 1 39
Sotos Sequence 43

Characteristics:

Orphanet epidemiological data:

58
sotos syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
de novo mutation
few familial (parent offspring) cases reported
slight increased risk for malignancy


HPO:

31
sotos syndrome 1:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

25
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 eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112103 DOID:14748
OMIM® 57 117550
OMIM Phenotypic Series 57 PS117550
KEGG 36 H00718
MeSH 44 D058495
NCIt 50 C75019
SNOMED-CT 67 75968004
ICD10 32 Q87.3
MESH via Orphanet 45 D058495
ICD10 via Orphanet 33 Q87.3
UMLS via Orphanet 71 C0175695
Orphanet 58 ORPHA821
UMLS 70 C0175695

Summaries for Sotos Syndrome 1

MedlinePlus Genetics : 43 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 1, also known as sotos syndrome, is related to weaver syndrome and learning disability, and has symptoms including seizures An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Lysine degradation and Chromatin organization. Affiliated tissues include eye, heart and kidney, and related phenotypes are coarse facial features and tall stature

Disease Ontology : 12 A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

GARD : 20 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 mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).

OMIM® : 57 Sotos syndrome 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). (117550) (Updated 20-May-2021)

NINDS : 53 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.

KEGG : 36 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.

UniProtKB/Swiss-Prot : 72 Sotos syndrome 1: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, 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.

Wikipedia : 73 Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first... more...

GeneReviews: NBK1479

Related Diseases for Sotos Syndrome 1

Diseases in the Sotos Syndrome 1 family:

Sotos Syndrome 2 Sotos Syndrome 3

Diseases related to Sotos Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 weaver syndrome 31.7 ZNF496 SETD2 PWWP2B NUP98 NSD3 NSD2
2 learning disability 31.3 PRODH MECP2 H2AC18
3 beckwith-wiedemann syndrome 31.2 NSD1 H2AC18 GPC3 EZH2 DNMT3A
4 williams-beuren syndrome 30.6 PRODH NSD1 IGFBP3 H2AC18
5 prader-willi syndrome 30.5 PRODH MECP2 IGFBP3 H2AC18
6 speech disorder 30.4 PRODH MECP2 H2AC18
7 laryngomalacia 30.3 NFIX MECP2
8 marshall-smith syndrome 30.3 NSD1 NFIX
9 autism spectrum disorder 30.2 SETD2 PRODH MECP2 KMT2D KDM5C IGFBP3
10 fragile x syndrome 30.2 PRODH MECP2 H2AC18 EZH2
11 pervasive developmental disorder 30.1 PRODH MECP2 H2AC18
12 leukemia, acute myeloid 30.1 SETD2 PRODH NUP98 NSD1 KMT2D H3-2
13 sotos syndrome 3 11.7
14 vasquez hurst sotos syndrome 11.2
15 cerebral gigantism jaw cysts 11.2
16 gigantism 10.7
17 cornelia de lange syndrome 5 10.4 NSD1 NFIX
18 acute megakaryoblastic leukemia without down syndrome 10.4 SETD2 NUP98
19 stereotypic movement disorder 10.4 PRODH MECP2
20 rhabdoid cancer 10.4 PRODH H2AC18 EZH2
21 diffuse midline glioma, h3 k27m-mutant 10.4 H3-2 H2AC18 EZH2
22 neuropathy, hereditary sensory, type ie 10.4 NSD1 MECP2 DNMT3A
23 hypotrichosis 2 10.4 PRODH H3-2 H2AC18
24 mature t-cell and nk-cell lymphoma 10.4 H3-2 H2AC18 DNMT3A
25 hypotonia 10.4
26 cartilage-hair hypoplasia 10.4 H3-2 H2AC18 DNMT3A
27 carbohydrate metabolic disorder 10.4 PRODH H3-2 H2AC18
28 wilms tumor predisposition 10.4 NSD1 GPC3
29 kleefstra syndrome 1 10.4 PWWP2B NSD3 NSD1 H2AC18
30 congenital nervous system abnormality 10.4 PRODH MECP2 H2AC18
31 chromosomal duplication syndrome 10.4 PRODH MECP2 H2AC18
32 wolf-hirschhorn syndrome 10.4 SETD2 NSD3 NSD2 NSD1 H2AC18
33 bone marrow cancer 10.4 NSD2 H2AC18 EZH2 DNMT3A
34 chromosomal deletion syndrome 10.4 PRODH NSD2 MECP2 H2AC18
35 chromosomal disease 10.3 PRODH NSD2 MECP2 H2AC18
36 immunodeficiency-centromeric instability-facial anomalies syndrome 10.3 MECP2 H3-2 H2AC18 DNMT3A
37 physical disorder 10.3 PRODH MECP2 H2AC18
38 mental retardation, x-linked, syndromic, claes-jensen type 10.3 PWWP2B KDM5C
39 childhood acute myeloid leukemia 10.3 NUP98 NSD3 NSD1 EZH2 DNMT3A
40 hypertelorism 10.3
41 x-linked monogenic disease 10.3 PRODH MECP2 H2AC18
42 kleefstra syndrome 10.3 NSD1 KMT2D KDM5C H3-2 H2AC18
43 alpha thalassemia-x-linked intellectual disability syndrome 10.3 NSD1 MECP2 H3-2 H2AC18 DNMT3A
44 kagami-ogata syndrome 10.3 MECP2 H3-2 H2AC18
45 epilepsy, idiopathic generalized 2 10.3 H3-2 H2AC18
46 alpha-thalassemia 10.3 NSD1 MECP2 KDM5C H3-2 H2AC18
47 hyperoxaluria, primary, type i 10.3 MECP2 H3-2 H2AC18 EZH2 DNMT3A
48 chromosome 16p13.3 deletion syndrome, proximal 10.3 MECP2 KMT2D KDM5C H3-2 H2AC18
49 specific developmental disorder 10.3 PRODH MECP2 H2AC18
50 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.2 MECP2 H2AC18

Graphical network of the top 20 diseases related to Sotos Syndrome 1:



Diseases related to Sotos Syndrome 1

Symptoms & Phenotypes for Sotos Syndrome 1

Human phenotypes related to Sotos Syndrome 1:

58 31 (show top 50) (show all 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
3 increased arm span 58 31 hallmark (90%) Very frequent (99-80%) HP:0012771
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
8 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
9 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
10 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
11 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
12 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
13 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
14 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
15 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
16 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
17 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
18 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
19 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
20 tall chin 58 31 frequent (33%) Frequent (79-30%) HP:0400000
21 sparse anterior scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0004768
22 flushing 58 31 frequent (33%) Frequent (79-30%) HP:0031284
23 hypotonia 31 frequent (33%) HP:0001252
24 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
25 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
26 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
27 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
28 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
29 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
30 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
31 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
32 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
33 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
34 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
35 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
36 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
37 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
38 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
39 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
40 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
41 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
42 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
43 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
44 aortic aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004942
45 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
46 pedal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010741
47 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280
48 dyscalculia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002442
49 poor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002370
50 cavum septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002389

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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:
seizures
hyperreflexia
neonatal hypotonia
ventriculomegaly
expressive language delay
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 20-May-2021)

UMLS symptoms related to Sotos Syndrome 1:


seizures

MGI Mouse Phenotypes related to Sotos Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 APC2 DNMT3A EZH2 GPC3 IGFBP3 KDM5C
2 homeostasis/metabolism MP:0005376 10.07 BCLAF3 DNMT3A EZH2 GPC3 IGFBP3 KDM5C
3 embryo MP:0005380 10.02 DNMT3A EZH2 GPC3 KDM5C KMT2D MECP2
4 mortality/aging MP:0010768 9.97 DNMT3A EZH2 GPC3 KDM5C KMT2D MECP2
5 craniofacial MP:0005382 9.95 GPC3 KMT2D MECP2 NFIX NSD2 NSD3
6 nervous system MP:0003631 9.7 APC2 DNMT3A EZH2 IGFBP3 KDM5C KMT2D
7 skeleton MP:0005390 9.32 DNMT3A EZH2 GPC3 IGFBP3 KMT2D MECP2

Drugs & Therapeutics for Sotos Syndrome 1

Search Clinical Trials , NIH Clinical Center for Sotos Syndrome 1

Cochrane evidence based reviews: sotos syndrome

Genetic Tests for Sotos Syndrome 1

Genetic tests related to Sotos Syndrome 1:

# Genetic test Affiliating Genes
1 Sotos Syndrome 29
2 Sotos Syndrome 1 29 NSD1

Anatomical Context for Sotos Syndrome 1

MalaCards organs/tissues related to Sotos Syndrome 1:

40
Eye, Heart, Kidney, Brain, Lung, Testis, Bone

Publications for Sotos Syndrome 1

Articles related to Sotos Syndrome 1:

(show top 50) (show all 473)
# Title Authors PMID Year
1
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 54 6 25 61 57
15942875 2005
2
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 61 54 6 25 57
14997421 2004
3
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 61 57 6 54 25
12464997 2003
4
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 54 61 6 57
16329110 2006
5
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. 6 61 54 57
12525543 2003
6
Haploinsufficiency of NSD1 causes Sotos syndrome. 54 57 6 61
11896389 2002
7
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 25 57 54 61
14571271 2003
8
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 6 25 54 61
12807965 2003
9
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. 57 25 61
14517949 2003
10
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. 25 61 57
10766982 2000
11
Sotos syndrome: evolution of facial phenotype subjective and objective assessment. 61 25 57
8914735 1996
12
Sotos syndrome: a study of the diagnostic criteria and natural history. 61 57 25
7512144 1994
13
Two cases of Sotos syndrome with novel mutations of the NSD1 gene. 57 54 61
20420030 2010
14
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 54 61 57
19876911 2009
15
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. 6 61 54
17565729 2007
16
Familial gigantism caused by an NSD1 mutation. 61 54 57
16222665 2005
17
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 61 54 6
15742365 2005
18
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 57 54 61
15720303 2005
19
Evaluation of NSD2 and NSD3 in overgrowth syndromes. 57 61 54
15483650 2005
20
Identification of eight novel NSD1 mutations in Sotos syndrome. 6 54 61
14627693 2003
21
Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome. 6 61
26896805 2016
22
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. 57 61
22012791 2011
23
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. 54 61 25
18001468 2007
24
Sotos syndrome. 54 25 61
16969376 2007
25
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. 25 54 61
16780628 2006
26
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 25 54 61
16247291 2005
27
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. 25 61 54
16188863 2005
28
NSD1 mutations in Sotos syndrome. 61 54 25
16010675 2005
29
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. 57 61
15640245 2005
30
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. 61 6
15580547 2005
31
Clinical features of NSD1-positive Sotos syndrome. 61 54 25
15365454 2004
32
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. 6 61
12676901 2003
33
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). 61 57
11807869 2002
34
Sacrococcygeal teratoma in two cases of Sotos syndrome. 61 57
11078573 2000
35
Sotos syndrome and cutis laxa. 61 57
9950366 1999
36
Gastric carcinoma in Sotos syndrome (cerebral gigantism). 61 57
10434127 1999
37
The syndromes of Sotos and Weaver: reports and review. 57 61
9781911 1998
38
Identical twins discordant for Sotos syndrome. 61 57
9781916 1998
39
Congenital heart defects in Sotos syndrome. 57 61
9781915 1998
40
The neuroimaging findings in Sotos syndrome. 61 57
9021022 1997
41
No evidence for uniparental disomy as a common cause of Sotos syndrome. 61 57
9032642 1997
42
Familial Sotos syndrome: longitudinal study of two additional cases. 57 61
7917124 1994
43
Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? 61 57
1316442 1992
44
High resolution-banded chromosomes from patients with Sotos syndrome. 57 61
2070551 1991
45
Sotos syndrome. 61 57
2231650 1990
46
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) 61 57
2323093 1990
47
Neuroblastoma in a patient with Sotos' syndrome. 61 57
2319581 1990
48
The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? 61 57
3168318 1988
49
Sotos syndrome--autosomal dominant inheritance substantiated. 57 61
4064361 1985
50
Metacarpophalangeal pattern profile analysis in Sotos syndrome. 61 57
3993685 1985

Variations for Sotos Syndrome 1

ClinVar genetic disease variations for Sotos Syndrome 1:

6 (show top 50) (show all 445)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSD1 NSD1, 1.9-MB DEL Deletion Pathogenic 4134 GRCh37:
GRCh38:
2 NSD1 NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter) SNV Pathogenic 4135 rs121908067 GRCh37: 5:176636710-176636710
GRCh38: 5:177209709-177209709
3 NSD1 NM_022455.4(NSD1):c.3536del (p.Glu1179fs) Deletion Pathogenic 4136 rs1562213381 GRCh37: 5:176638936-176638936
GRCh38: 5:177211935-177211935
4 NSD1 NM_022455.4(NSD1):c.5997_5998insT (p.Thr2000fs) Insertion Pathogenic 4137 rs1562295135 GRCh37: 5:176709570-176709571
GRCh38: 5:177282569-177282570
5 NSD1 NM_022455.4(NSD1):c.6151+1G>A SNV Pathogenic 4138 rs1562296511 GRCh37: 5:176710930-176710930
GRCh38: 5:177283929-177283929
6 NSD1 NM_022455.4(NSD1):c.6429C>G (p.His2143Gln) SNV Pathogenic 4139 rs121908068 GRCh37: 5:176719125-176719125
GRCh38: 5:177292124-177292124
7 NSD1 NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser) SNV Pathogenic 4140 rs121908069 GRCh37: 5:176720917-176720917
GRCh38: 5:177293916-177293916
8 NSD1 NM_022455.4(NSD1):c.6450dup (p.Lys2151fs) Duplication Pathogenic 4141 rs864309639 GRCh37: 5:176719144-176719145
GRCh38: 5:177292143-177292144
9 NSD1 NM_022455.4(NSD1):c.896del (p.Ser299fs) Deletion Pathogenic 4142 rs1562099585 GRCh37: 5:176563000-176563000
GRCh38: 5:177135999-177135999
10 NSD1 NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) SNV Pathogenic 4143 rs121908070 GRCh37: 5:176665274-176665274
GRCh38: 5:177238273-177238273
11 NSD1 NM_022455.4(NSD1):c.4977dup (p.Arg1660fs) Duplication Pathogenic 4144 rs1562269320 GRCh37: 5:176686999-176687000
GRCh38: 5:177259998-177259999
12 NSD1 NM_022455.4(NSD1):c.7968_7971del (p.Gln2656fs) Deletion Pathogenic 4145 rs1562312238 GRCh37: 5:176722334-176722337
GRCh38: 5:177295333-177295336
13 NSD1 NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) SNV Pathogenic 4146 rs121908071 GRCh37: 5:176720974-176720974
GRCh38: 5:177293973-177293973
14 NSD1 NM_022455.4(NSD1):c.1077del (p.Arg359fs) Deletion Pathogenic 159258 rs587784068 GRCh37: 5:176631133-176631133
GRCh38: 5:177204132-177204132
15 NSD1 NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) SNV Pathogenic 159271 rs587784076 GRCh37: 5:176637210-176637210
GRCh38: 5:177210209-177210209
16 NSD1 NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter) SNV Pathogenic 159273 rs587784077 GRCh37: 5:176637231-176637231
GRCh38: 5:177210230-177210230
17 NSD1 NM_022455.4(NSD1):c.2014_2018del (p.Thr672fs) Deletion Pathogenic 159275 rs587784078 GRCh37: 5:176637411-176637415
GRCh38: 5:177210410-177210414
18 NSD1 NM_022455.4(NSD1):c.2048del (p.Lys683fs) Deletion Pathogenic 159276 rs587784079 GRCh37: 5:176637445-176637445
GRCh38: 5:177210444-177210444
19 NSD1 NM_022455.4(NSD1):c.2049_2053del (p.Ile684fs) Deletion Pathogenic 159277 rs587784080 GRCh37: 5:176637447-176637451
GRCh38: 5:177210446-177210450
20 NSD1 NM_022455.4(NSD1):c.2064del (p.Arg688fs) Deletion Pathogenic 159278 rs587784081 GRCh37: 5:176637463-176637463
GRCh38: 5:177210462-177210462
21 NSD1 NM_022455.4(NSD1):c.2124_2127del (p.His708fs) Deletion Pathogenic 159280 rs587784082 GRCh37: 5:176637521-176637524
GRCh38: 5:177210520-177210523
22 NSD1 NM_022455.4(NSD1):c.2276C>G (p.Ser759Ter) SNV Pathogenic 159283 rs587784084 GRCh37: 5:176637676-176637676
GRCh38: 5:177210675-177210675
23 NSD1 NM_022455.4(NSD1):c.2295del (p.Ser766fs) Deletion Pathogenic 159285 rs587784085 GRCh37: 5:176637695-176637695
GRCh38: 5:177210694-177210694
24 NSD1 NM_022455.4(NSD1):c.2339C>A (p.Ser780Ter) SNV Pathogenic 159286 rs201327209 GRCh37: 5:176637739-176637739
GRCh38: 5:177210738-177210738
25 NSD1 NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs) Deletion Pathogenic 159287 rs587784086 GRCh37: 5:176637783-176637786
GRCh38: 5:177210782-177210785
26 NSD1 NM_022455.4(NSD1):c.2639del (p.Gly880fs) Deletion Pathogenic 159288 rs587784087 GRCh37: 5:176638038-176638038
GRCh38: 5:177211037-177211037
27 NSD1 NM_022455.4(NSD1):c.2654C>A (p.Ser885Ter) SNV Pathogenic 159289 rs587784088 GRCh37: 5:176638054-176638054
GRCh38: 5:177211053-177211053
28 NSD1 NM_022455.4(NSD1):c.2827del (p.Asp943fs) Deletion Pathogenic 159291 rs587784089 GRCh37: 5:176638224-176638224
GRCh38: 5:177211223-177211223
29 NSD1 NM_172349.2(NSD1):c.2237_2238GT[1] (p.Val747fs) Microsatellite Pathogenic 159297 rs587784094 GRCh37: 5:176638443-176638444
GRCh38: 5:177211442-177211443
30 NSD1 NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) SNV Pathogenic 159298 rs587784095 GRCh37: 5:176638467-176638467
GRCh38: 5:177211466-177211466
31 NSD1 NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter) SNV Pathogenic 159300 rs587784096 GRCh37: 5:176638491-176638491
GRCh38: 5:177211490-177211490
32 NSD1 NM_172349.2(NSD1):c.2376_2377TG[1] (p.Val793fs) Microsatellite Pathogenic 159302 rs587784097 GRCh37: 5:176638582-176638583
GRCh38: 5:177211581-177211582
33 NSD1 NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) SNV Pathogenic 159303 rs587784098 GRCh37: 5:176638614-176638614
GRCh38: 5:177211613-177211613
34 NSD1 NM_022455.4(NSD1):c.3293del (p.Thr1098fs) Deletion Pathogenic 159305 rs587784099 GRCh37: 5:176638693-176638693
GRCh38: 5:177211692-177211692
35 NSD1 NM_022455.4(NSD1):c.3295del (p.Ser1099fs) Deletion Pathogenic 159306 rs587784100 GRCh37: 5:176638694-176638694
GRCh38: 5:177211693-177211693
36 NSD1 NM_172349.2(NSD1):c.2572_2573CT[2] (p.Ser859fs) Microsatellite Pathogenic 159307 rs587784101 GRCh37: 5:176638779-176638780
GRCh38: 5:177211778-177211779
37 NSD1 NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter) SNV Pathogenic 159263 rs587784071 GRCh37: 5:176636662-176636662
GRCh38: 5:177209661-177209661
38 NSD1 NM_022455.4(NSD1):c.1456del (p.Ser486fs) Deletion Pathogenic 159266 rs587784073 GRCh37: 5:176636855-176636855
GRCh38: 5:177209854-177209854
39 NSD1 NM_022455.4(NSD1):c.3578_3582del (p.Ser1193fs) Deletion Pathogenic 159311 rs587784103 GRCh37: 5:176638978-176638982
GRCh38: 5:177211977-177211981
40 NSD1 NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs) Microsatellite Pathogenic 159312 rs587784104 GRCh37: 5:176639057-176639058
GRCh38: 5:177212056-177212057
41 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
42 NSD1 NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) SNV Pathogenic 159318 rs587784107 GRCh37: 5:176665280-176665280
GRCh38: 5:177238279-177238279
43 NSD1 NM_022455.4(NSD1):c.4057G>T (p.Glu1353Ter) SNV Pathogenic 159320 rs587784109 GRCh37: 5:176665373-176665373
GRCh38: 5:177238372-177238372
44 NSD1 NM_022455.4(NSD1):c.4076C>G (p.Ser1359Ter) SNV Pathogenic 159322 rs587784110 GRCh37: 5:176665392-176665392
GRCh38: 5:177238391-177238391
45 NSD1 NM_022455.4(NSD1):c.4192+2T>G SNV Pathogenic 159323 rs587784111 GRCh37: 5:176665510-176665510
GRCh38: 5:177238509-177238509
46 NSD1 NM_172349.2(NSD1):c.3494del (p.Lys1165fs) Deletion Pathogenic 159324 rs587784112 GRCh37: 5:176666861-176666861
GRCh38: 5:177239860-177239860
47 NSD1 NM_172349.2(NSD1):c.2145_2146CT[1] (p.Ser716fs) Microsatellite Pathogenic 159294 rs587784092 GRCh37: 5:176638352-176638353
GRCh38: 5:177211351-177211352
48 NSD1 NM_022455.4(NSD1):c.2956del (p.Ala986fs) Deletion Pathogenic 159295 rs587784093 GRCh37: 5:176638356-176638356
GRCh38: 5:177211355-177211355
49 NSD1 NM_022455.4(NSD1):c.4376del (p.Gly1459fs) Deletion Pathogenic 159327 rs587784114 GRCh37: 5:176671268-176671268
GRCh38: 5:177244267-177244267
50 NSD1 NM_022455.4(NSD1):c.4378+1G>A SNV Pathogenic 159328 rs587784115 GRCh37: 5:176671272-176671272
GRCh38: 5:177244271-177244271

UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 1:

72 (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 1 from CNVD:

7 (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 1

Search GEO for disease gene expression data for Sotos Syndrome 1.

Pathways for Sotos Syndrome 1

Pathways related to Sotos Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Lysine degradation hsa00310

Pathways related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 SETD2 NSD3 NSD2 NSD1 KMT2D KDM5C
2 12.06 SETD2 MECP2 KDM5C EZH2 DNMT3A
3
Show member pathways
11.79 SETD2 NSD3 NSD2 NSD1 KMT2D EZH2
4 10.9 SETD2 NSD3 NSD2 NSD1 KMT2D EZH2

GO Terms for Sotos Syndrome 1

Cellular components related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.03 ZNF496 SETD2 NUP98 NSD3 NSD2 NSD1
2 chromatin GO:0000785 9.8 ZNF496 NSD3 NSD2 NSD1 NFIX H2AC18
3 nucleoplasm GO:0005654 9.44 SETD2 PWWP2B PRODH NUP98 NSD3 NSD2
4 chromosome GO:0005694 9.43 SETD2 NSD3 NSD2 NSD1 H3-2 H2AC18

Biological processes related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.01 ZNF496 SETD2 NSD3 NSD2 NSD1 NFIX
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 NSD2 NSD1 NFIX MECP2 EZH2 DNMT3A
3 regulation of gene expression GO:0010468 9.8 SETD2 MECP2 EZH2 DNMT3A
4 methylation GO:0032259 9.7 SETD2 NSD3 NSD2 NSD1 KMT2D EZH2
5 histone lysine methylation GO:0034968 9.62 SETD2 NSD3 NSD1 EZH2
6 chromatin silencing GO:0006342 9.61 MECP2 KMT2D H2AC18
7 histone methylation GO:0016571 9.56 NSD3 NSD1 MECP2 EZH2
8 chromatin organization GO:0006325 9.56 SETD2 NSD3 NSD2 NSD1 KMT2D KDM5C
9 regulation of gene expression by genetic imprinting GO:0006349 9.48 MECP2 DNMT3A
10 histone H4-K20 methylation GO:0034770 9.37 NSD2 NSD1
11 histone H3-K36 methylation GO:0010452 8.92 SETD2 NSD3 NSD2 NSD1

Molecular functions related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10 ZNF496 NSD2 NFIX MECP2 KMT2D KDM5C
2 chromatin binding GO:0003682 9.83 NSD2 NSD1 MECP2 EZH2 DNMT3A
3 transcription corepressor activity GO:0003714 9.67 NSD1 MECP2 EZH2 DNMT3A
4 promoter-specific chromatin binding GO:1990841 9.58 NUP98 MECP2 EZH2
5 methyltransferase activity GO:0008168 9.5 SETD2 NSD3 NSD2 NSD1 KMT2D EZH2
6 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.46 SETD2 NSD3 NSD2 NSD1
7 histone methyltransferase activity (H4-K20 specific) GO:0042799 9.32 NSD2 NSD1
8 histone-lysine N-methyltransferase activity GO:0018024 9.02 SETD2 NSD3 NSD2 NSD1 EZH2

Sources for Sotos Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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