SOTOS1
MCID: STS008
MIFTS: 60

Sotos Syndrome 1 (SOTOS1)

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

Aliases & Classifications for Sotos Syndrome 1

MalaCards integrated aliases for Sotos Syndrome 1:

Name: Sotos Syndrome 1 56 73 29 13 6
Sotos Syndrome 56 12 74 24 52 25 53 58 73 36 29 54 6 43 15 39
Cerebral Gigantism 56 12 74 52 25 53 58 73
Chromosome 5q35 Deletion Syndrome 56 73
Sotos' Syndrome 25 71
Sotos1 56 73
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 52
Sotos Syndrome, Type 1 39
Sotos Sequence 25

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:

56
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:

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 eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Sotos Syndrome 1

Genetics Home Reference : 25 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 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 beckwith-wiedemann syndrome, 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 Gene Expression. Affiliated tissues include eye, bone and heart, and related phenotypes are macrocephaly and hypertelorism

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

NIH Rare Diseases : 52 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 : 56 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)

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 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 : 73 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 : 74 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 215)
# Related Disease Score Top Affiliating Genes
1 weaver syndrome 32.3 ZNF496 SETD2 PWWP2B NUP98 NSD3 NSD2
2 beckwith-wiedemann syndrome 30.7 NSD1 H2AC18 GPC3 EZH2 DNMT3A
3 overgrowth syndrome 30.3 SETD2 NSD1 NFIX GPC3 DNMT3A APC2
4 marshall-smith syndrome 30.3 NSD1 NFIX
5 leukemia, acute myeloid 30.0 NUP98 NSD1 H3-2 H2AC18 EZH2 DNMT3A
6 sotos syndrome 3 12.7
7 cerebral gigantism jaw cysts 12.4
8 vasquez hurst sotos syndrome 12.3
9 gigantism 10.7
10 learning disability 10.5
11 wilms tumor predisposition 10.5 NSD1 GPC3
12 silver-russell syndrome 10.4 NSD1 IGFBP3 H2AC18
13 mental retardation, x-linked, syndromic, claes-jensen type 10.4 PWWP2B KDM5C
14 chromosome 16p13.3 deletion syndrome, proximal 10.4 H3-2 H2AC18 EHMT1
15 alacrima, achalasia, and mental retardation syndrome 10.4
16 immunodeficiency-centromeric instability-facial anomalies syndrome 10.4 H3-2 H2AC18 DNMT3A
17 cebpa-associated familial acute myeloid leukemia 10.4 NSD1 DNMT3A
18 bone marrow cancer 10.4 NSD2 H2AC18 EZH2 DNMT3A
19 alpha thalassemia-x-linked intellectual disability syndrome 10.4 KDM5C H3-2 H2AC18 DNMT3A
20 suppression of tumorigenicity 12 10.4 IGFBP3 H3-2 H2AC18 EZH2
21 hypotonia 10.4
22 autosomal dominant non-syndromic intellectual disability 10.3 KDM5C H2AC18 EZH2 EHMT1
23 kleefstra syndrome 1 10.3 NSD1 KDM5C H3-2 H2AC18 EHMT1
24 chronic myelomonocytic leukemia 10.3 NUP98 EZH2 DNMT3A
25 hypertelorism 10.3
26 kabuki syndrome 1 10.3 NSD2 KDM5C H3-2 H2AC18 EHMT1
27 neuropathy, hereditary sensory, type ie 10.2 H2AC18 DNMT3A
28 hypoglycemia 10.2
29 wolf-hirschhorn syndrome 10.2 SETD2 NSD3 NSD2 NSD1 H3-2 H2AC18
30 microcephaly 10.2
31 prader-willi syndrome 10.1
32 hydronephrosis 10.1
33 attention deficit-hyperactivity disorder 10.1
34 williams-beuren syndrome 10.1
35 autism 10.1
36 hydrocephalus, congenital, 1 10.1
37 patent ductus arteriosus 1 10.1
38 fibroma 10.1
39 left ventricular noncompaction 10.1
40 hyperinsulinemic hypoglycemia 10.1
41 epilepsy 10.1
42 neonatal jaundice 10.1
43 cutis laxa 10.1
44 cataract 10.1
45 polyhydramnios 10.1
46 seizure disorder 10.1
47 hypothyroidism 10.0
48 gastroesophageal reflux 10.0
49 strabismus 10.0
50 down syndrome 10.0

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 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
6 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
9 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
12 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
13 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
14 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
15 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
16 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
17 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
18 precocious puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000826
19 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
20 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
21 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
22 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
23 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
24 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
25 advanced eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006288
26 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
27 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
28 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
29 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
30 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
31 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
32 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
33 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
34 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
35 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
36 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
37 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
38 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
39 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
40 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
41 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
42 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
43 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
44 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
45 renal duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000075
46 neoplasm of the nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0004375
47 sacrococcygeal teratoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030736
48 abnormal fingernail morphology 31 occasional (7.5%) HP:0001231
49 nystagmus 31 HP:0000639
50 pes planus 31 HP:0001763

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
dolichocephaly

Skeletal Limbs:
genu valgum
joint laxity
long arm span

Head And Neck Eyes:
nystagmus
strabismus
downslanting palpebral fissures
hyperopia

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Head And Neck Ears:
otitis media
conductive hearing loss

Skeletal:
advanced bone age

Growth Weight:
mean full term birth weight 3.9kg

Head And Neck Mouth:
high arched palate

Skin Nails Hair Nails:
thin brittle fingernails

Neoplasia:
wilms tumor

Head And Neck Face:
frontal bossing
pointed chin
prognathism

Neurologic Central Nervous System:
seizures
hyperreflexia
neonatal hypotonia
ventriculomegaly
poor coordination
more
Skeletal Feet:
pes planus
large feet

Cardiovascular Vascular:
patent ductus arteriosus

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

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

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

UMLS symptoms related to Sotos Syndrome 1:


seizures

MGI Mouse Phenotypes related to Sotos Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.76 DNMT3A EHMT1 EZH2 GPC3 KDM5C NSD1
2 growth/size/body region MP:0005378 9.73 APC2 DNMT3A EHMT1 EZH2 GPC3 IGFBP3
3 skeleton MP:0005390 9.28 DNMT3A EHMT1 EZH2 GPC3 IGFBP3 NFIX

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, Bone, Heart, Kidney, Brain, Skin, Myeloid

Publications for Sotos Syndrome 1

Articles related to Sotos Syndrome 1:

(show top 50) (show all 450)
# Title Authors PMID Year
1
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 54 61 24 56 6
15942875 2005
2
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 54 61 24 56 6
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. 54 61 24 56 6
12464997 2003
4
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 54 61 56 6
16329110 2006
5
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. 54 61 56 6
12525543 2003
6
Haploinsufficiency of NSD1 causes Sotos syndrome. 54 61 56 6
11896389 2002
7
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 54 61 24 56
14571271 2003
8
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. 61 24 56
14517949 2003
9
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. 61 24 56
10766982 2000
10
Sotos syndrome: evolution of facial phenotype subjective and objective assessment. 61 24 56
8914735 1996
11
Sotos syndrome: a study of the diagnostic criteria and natural history. 61 24 56
7512144 1994
12
Two cases of Sotos syndrome with novel mutations of the NSD1 gene. 54 61 56
20420030 2010
13
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 54 61 56
19876911 2009
14
Familial gigantism caused by an NSD1 mutation. 54 61 56
16222665 2005
15
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 54 61 56
15720303 2005
16
Evaluation of NSD2 and NSD3 in overgrowth syndromes. 54 61 56
15483650 2005
17
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. 61 56
22012791 2011
18
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. 54 61 24
18001468 2007
19
Sotos syndrome. 54 61 24
16969376 2007
20
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. 54 61 24
16780628 2006
21
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 54 61 24
16247291 2005
22
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. 54 61 24
16188863 2005
23
NSD1 mutations in Sotos syndrome. 54 61 24
16010675 2005
24
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. 61 56
15640245 2005
25
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
26
Sotos Syndrome 61 6
20301652 2004
27
Clinical features of NSD1-positive Sotos syndrome. 54 61 24
15365454 2004
28
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 54 61 24
12807965 2003
29
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. 61 6
12676901 2003
30
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). 61 56
11807869 2002
31
Sacrococcygeal teratoma in two cases of Sotos syndrome. 61 56
11078573 2000
32
Gastric carcinoma in Sotos syndrome (cerebral gigantism). 61 56
10434127 1999
33
Sotos syndrome and cutis laxa. 61 56
9950366 1999
34
The syndromes of Sotos and Weaver: reports and review. 61 56
9781911 1998
35
Congenital heart defects in Sotos syndrome. 61 56
9781915 1998
36
Identical twins discordant for Sotos syndrome. 61 56
9781916 1998
37
The neuroimaging findings in Sotos syndrome. 61 56
9021022 1997
38
No evidence for uniparental disomy as a common cause of Sotos syndrome. 61 56
9032642 1997
39
Familial Sotos syndrome: longitudinal study of two additional cases. 61 56
7917124 1994
40
Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? 61 56
1316442 1992
41
High resolution-banded chromosomes from patients with Sotos syndrome. 61 56
2070551 1991
42
Sotos syndrome. 61 56
2231650 1990
43
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) 61 56
2323093 1990
44
Neuroblastoma in a patient with Sotos' syndrome. 61 56
2319581 1990
45
The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? 61 56
3168318 1988
46
Sotos syndrome--autosomal dominant inheritance substantiated. 61 56
4064361 1985
47
Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. 61 56
2581446 1985
48
Metacarpophalangeal pattern profile analysis in Sotos syndrome. 61 56
3993685 1985
49
Investigations in dominant Sotos syndrome. 61 56
6977303 1981
50
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. 61 56
7449178 1980

Variations for Sotos Syndrome 1

ClinVar genetic disease variations for Sotos Syndrome 1:

6 (show top 50) (show all 386) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.2639del (p.Gly880fs)deletion Pathogenic 159288 rs587784087 5:176638038-176638038 5:177211037-177211037
2 NSD1 NM_022455.4(NSD1):c.2654C>A (p.Ser885Ter)SNV Pathogenic 159289 rs587784088 5:176638054-176638054 5:177211053-177211053
3 NSD1 NM_022455.4(NSD1):c.1077del (p.Arg359fs)deletion Pathogenic 159258 rs587784068 5:176631133-176631133 5:177204132-177204132
4 NSD1 NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter)SNV Pathogenic 159263 rs587784071 5:176636662-176636662 5:177209661-177209661
5 NSD1 NM_022455.4(NSD1):c.1456del (p.Ser486fs)deletion Pathogenic 159266 rs587784073 5:176636855-176636855 5:177209854-177209854
6 NSD1 NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter)SNV Pathogenic 159271 rs587784076 5:176637210-176637210 5:177210209-177210209
7 NSD1 NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter)SNV Pathogenic 159273 rs587784077 5:176637231-176637231 5:177210230-177210230
8 NSD1 NM_022455.4(NSD1):c.2014_2018del (p.Thr672fs)deletion Pathogenic 159275 rs587784078 5:176637411-176637415 5:177210410-177210414
9 NSD1 NM_022455.4(NSD1):c.2048del (p.Lys683fs)deletion Pathogenic 159276 rs587784079 5:176637445-176637445 5:177210444-177210444
10 NSD1 NM_022455.4(NSD1):c.2049_2053del (p.Ile684fs)deletion Pathogenic 159277 rs587784080 5:176637447-176637451 5:177210446-177210450
11 NSD1 NM_022455.4(NSD1):c.2064del (p.Arg688fs)deletion Pathogenic 159278 rs587784081 5:176637463-176637463 5:177210462-177210462
12 NSD1 NM_022455.4(NSD1):c.2124_2127del (p.His708fs)deletion Pathogenic 159280 rs587784082 5:176637521-176637524 5:177210520-177210523
13 NSD1 NM_022455.4(NSD1):c.2276C>G (p.Ser759Ter)SNV Pathogenic 159283 rs587784084 5:176637676-176637676 5:177210675-177210675
14 NSD1 NM_022455.4(NSD1):c.2295del (p.Ser766fs)deletion Pathogenic 159285 rs587784085 5:176637695-176637695 5:177210694-177210694
15 NSD1 NM_022455.4(NSD1):c.2339C>A (p.Ser780Ter)SNV Pathogenic 159286 rs201327209 5:176637739-176637739 5:177210738-177210738
16 NSD1 NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs)deletion Pathogenic 159287 rs587784086 5:176637783-176637786 5:177210782-177210785
17 NSD1 NM_022455.4(NSD1):c.2827del (p.Asp943fs)deletion Pathogenic 159291 rs587784089 5:176638224-176638224 5:177211223-177211223
18 NSD1 NM_172349.2(NSD1):c.2145_2146CT[1] (p.Ser716fs)short repeat Pathogenic 159294 rs587784092 5:176638352-176638353 5:177211351-177211352
19 NSD1 NM_022455.4(NSD1):c.2956del (p.Ala986fs)deletion Pathogenic 159295 rs587784093 5:176638356-176638356 5:177211355-177211355
20 NSD1 NM_172349.2(NSD1):c.2237_2238GT[1] (p.Val747fs)short repeat Pathogenic 159297 rs587784094 5:176638443-176638444 5:177211442-177211443
21 NSD1 NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter)SNV Pathogenic 159298 rs587784095 5:176638467-176638467 5:177211466-177211466
22 NSD1 NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter)SNV Pathogenic 159300 rs587784096 5:176638491-176638491 5:177211490-177211490
23 NSD1 NM_172349.2(NSD1):c.2376_2377TG[1] (p.Val793fs)short repeat Pathogenic 159302 rs587784097 5:176638582-176638583 5:177211581-177211582
24 NSD1 NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter)SNV Pathogenic 159303 rs587784098 5:176638614-176638614 5:177211613-177211613
25 NSD1 NM_022455.4(NSD1):c.3293del (p.Thr1098fs)deletion Pathogenic 159305 rs587784099 5:176638693-176638693 5:177211692-177211692
26 NSD1 NM_022455.4(NSD1):c.3295del (p.Ser1099fs)deletion Pathogenic 159306 rs587784100 5:176638694-176638694 5:177211693-177211693
27 NSD1 NM_172349.2(NSD1):c.2572_2573CT[2] (p.Ser859fs)short repeat Pathogenic 159307 rs587784101 5:176638779-176638780 5:177211778-177211779
28 NSD1 NM_022455.4(NSD1):c.3578_3582del (p.Ser1193fs)deletion Pathogenic 159311 rs587784103 5:176638978-176638982 5:177211977-177211981
29 NSD1 NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs)short repeat Pathogenic 159312 rs587784104 5:176639057-176639058 5:177212056-177212057
30 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
31 NSD1 NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter)SNV Pathogenic 159318 rs587784107 5:176665280-176665280 5:177238279-177238279
32 NSD1 NM_022455.4(NSD1):c.4057G>T (p.Glu1353Ter)SNV Pathogenic 159320 rs587784109 5:176665373-176665373 5:177238372-177238372
33 NSD1 NM_022455.4(NSD1):c.4076C>G (p.Ser1359Ter)SNV Pathogenic 159322 rs587784110 5:176665392-176665392 5:177238391-177238391
34 NSD1 NM_022455.4(NSD1):c.4192+2T>GSNV Pathogenic 159323 rs587784111 5:176665510-176665510 5:177238509-177238509
35 NSD1 NM_172349.2(NSD1):c.3494del (p.Lys1165fs)deletion Pathogenic 159324 rs587784112 5:176666861-176666861 5:177239860-177239860
36 NSD1 NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter)SNV Pathogenic 159330 rs570278338 5:176673711-176673711 5:177246710-177246710
37 NSD1 NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter)SNV Pathogenic 159331 rs587784117 5:176673717-176673717 5:177246716-177246716
38 NSD1 NM_022455.4(NSD1):c.4444C>T (p.Gln1482Ter)SNV Pathogenic 159332 rs587784118 5:176673744-176673744 5:177246743-177246743
39 NSD1 NM_022455.4(NSD1):c.4493C>G (p.Ser1498Ter)SNV Pathogenic 159333 rs587784119 5:176673793-176673793 5:177246792-177246792
40 NSD1 NM_022455.4(NSD1):c.4498-3A>GSNV Pathogenic 159334 rs587784120 5:176675179-176675179 5:177248178-177248178
41 NSD1 NM_022455.4(NSD1):c.4376del (p.Gly1459fs)deletion Pathogenic 159327 rs587784114 5:176671268-176671268 5:177244267-177244267
42 NSD1 NM_022455.4(NSD1):c.4529del (p.Ser1510fs)deletion Pathogenic 159336 rs587784121 5:176675213-176675213 5:177248212-177248212
43 NSD1 NM_022455.4(NSD1):c.4681C>T (p.Gln1561Ter)SNV Pathogenic 159340 rs587784122 5:176678770-176678770 5:177251769-177251769
44 NSD1 NM_022455.4(NSD1):c.4705del (p.Glu1569fs)deletion Pathogenic 159341 rs587784123 5:176678793-176678793 5:177251792-177251792
45 NSD1 NM_022455.4(NSD1):c.4731_4732del (p.Gly1579fs)deletion Pathogenic 159342 rs587784124 5:176678820-176678821 5:177251819-177251820
46 NSD1 NM_022455.4(NSD1):c.4745del (p.Ile1582fs)deletion Pathogenic 159343 rs587784125 5:176678834-176678834 5:177251833-177251833
47 NSD1 NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter)SNV Pathogenic 159344 rs587784126 5:176678842-176678842 5:177251841-177251841
48 NSD1 NM_022455.4(NSD1):c.4855T>A (p.Cys1619Ser)SNV Pathogenic 159347 rs587784128 5:176684041-176684041 5:177257040-177257040
49 NSD1 NM_022455.4(NSD1):c.4855T>G (p.Cys1619Gly)SNV Pathogenic 159348 rs587784128 5:176684041-176684041 5:177257040-177257040
50 NSD1 NM_022455.4(NSD1):c.4907C>T (p.Ser1636Phe)SNV Pathogenic 159350 rs587784129 5:176684093-176684093 5:177257092-177257092

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

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 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 FDX1L 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
13.41 ZNF772 ZNF496 NUP98 NFIX IGFBP3 H2AC18
2
Show member pathways
12.65 SETD2 NSD3 NSD2 NSD1 KDM5C H2AC18
3 11.96 SETD2 KDM5C EZH2 DNMT3A
4
Show member pathways
11.59 SETD2 NSD3 NSD2 NSD1 EZH2 EHMT1
5 10.89 SETD2 NSD3 NSD2 NSD1 EZH2 EHMT1

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 nucleoplasm GO:0005654 9.9 SETD2 PWWP2B NUP98 NSD3 NSD2 NSD1
2 nucleus GO:0005634 9.83 ZNF772 ZNF496 SETD2 NUP98 NSD3 NSD2
3 chromatin GO:0000785 9.43 NSD3 NSD2 NSD1
4 chromosome GO:0005694 9.17 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 10.06 ZNF772 ZNF496 SETD2 NSD3 NSD2 NSD1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 NSD2 NSD1 NFIX EZH2 EHMT1 DNMT3A
3 methylation GO:0032259 9.8 SETD2 NSD3 NSD2 NSD1 EZH2 EHMT1
4 histone methylation GO:0016571 9.62 NSD3 NSD1 EZH2 EHMT1
5 histone lysine methylation GO:0034968 9.55 SETD2 NSD3 NSD1 EZH2 EHMT1
6 DNA methylation GO:0006306 9.54 EZH2 EHMT1 DNMT3A
7 peptidyl-lysine monomethylation GO:0018026 9.49 SETD2 EHMT1
8 histone H3-K27 methylation GO:0070734 9.43 EZH2 EHMT1
9 histone H4-K20 methylation GO:0034770 9.4 NSD2 NSD1
10 chromatin organization GO:0006325 9.28 SETD2 NSD3 NSD2 NSD1 KDM5C H2AC18
11 histone H3-K36 methylation GO:0010452 9.26 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 metal ion binding GO:0046872 10.17 ZNF772 ZNF496 XYLT2 SETD2 NSD3 NSD2
2 transferase activity GO:0016740 10.06 XYLT2 SETD2 NSD3 NSD2 NSD1 EZH2
3 DNA binding GO:0003677 10.06 ZNF772 ZNF496 NSD2 NFIX KDM5C H3-2
4 methyltransferase activity GO:0008168 9.7 SETD2 NSD3 NSD2 NSD1 EZH2 EHMT1
5 protein-lysine N-methyltransferase activity GO:0016279 9.43 SETD2 EZH2 EHMT1
6 histone methyltransferase activity (H3-K27 specific) GO:0046976 9.37 EZH2 EHMT1
7 histone methyltransferase activity (H4-K20 specific) GO:0042799 9.32 NSD2 NSD1
8 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.26 SETD2 NSD3 NSD2 NSD1
9 histone-lysine N-methyltransferase activity GO:0018024 9.1 SETD2 NSD3 NSD2 NSD1 EZH2 EHMT1

Sources for Sotos Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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