SOTOS1
MCID: STS008
MIFTS: 57

Sotos Syndrome 1 (SOTOS1)

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

Aliases & Classifications for Sotos Syndrome 1

MalaCards integrated aliases for Sotos Syndrome 1:

Name: Sotos Syndrome 1 57 74 29 13 6
Sotos Syndrome 57 12 75 24 53 25 54 59 74 37 29 55 6 44 15 40
Cerebral Gigantism 57 12 75 53 25 54 59 74
Chromosome 5q35 Deletion Syndrome 57 74
Sotos' Syndrome 25 72
Sotos1 57 74
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 53
Sotos Syndrome, Type 1 40
Sotos Sequence 25

Characteristics:

Orphanet epidemiological data:

59
sotos syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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:



External Ids:

Disease Ontology 12 DOID:14748
KEGG 37 H00718
MeSH 44 D058495
NCIt 50 C75019
SNOMED-CT 68 75968004
ICD10 33 Q87.3
MESH via Orphanet 45 D058495
ICD10 via Orphanet 34 Q87.3
UMLS via Orphanet 73 C0175695
Orphanet 59 ORPHA821
UMLS 72 C0175695

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 marshall-smith syndrome and sotos syndrome 3, 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 PKMTs methylate histone lysines. 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 : 53 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).

NINDS : 54 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 : 37
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 : 74 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 : 75 Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first... more...

More information from OMIM: 117550 PS117550
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 198)
# Related Disease Score Top Affiliating Genes
1 marshall-smith syndrome 29.7 NSD1 NFIX
2 sotos syndrome 3 12.7
3 cerebral gigantism jaw cysts 12.4
4 vasquez hurst sotos syndrome 12.3
5 weaver syndrome 11.9
6 gigantism 10.7
7 learning disability 10.5
8 alacrima, achalasia, and mental retardation syndrome 10.4
9 hypotonia 10.4
10 hypertelorism 10.3
11 hypoglycemia 10.2
12 microcephaly 10.2
13 beckwith-wiedemann syndrome 10.1
14 prader-willi syndrome 10.1
15 hydronephrosis 10.1
16 attention deficit-hyperactivity disorder 10.1
17 williams-beuren syndrome 10.1
18 autism 10.1
19 hydrocephalus, congenital, 1 10.1
20 patent ductus arteriosus 1 10.1
21 fibroma 10.1
22 left ventricular noncompaction 10.1
23 hyperinsulinemic hypoglycemia 10.1
24 neonatal jaundice 10.1
25 cutis laxa 10.1
26 cataract 10.1
27 polyhydramnios 10.1
28 seizure disorder 10.1
29 hypothyroidism 10.0
30 gastroesophageal reflux 10.0
31 strabismus 10.0
32 down syndrome 10.0
33 cryptorchidism, unilateral or bilateral 10.0
34 megalocornea 10.0
35 neuroblastoma 1 10.0
36 3-methylglutaconic aciduria, type iii 10.0
37 autism spectrum disorder 10.0
38 lymphoma 10.0
39 pre-eclampsia 10.0
40 visual epilepsy 10.0
41 heart septal defect 10.0
42 status epilepticus 10.0
43 epilepsy 10.0
44 atrial heart septal defect 10.0
45 hyperinsulinism 10.0
46 acromegaly 10.0
47 kidney disease 10.0
48 mechanical strabismus 10.0
49 pathologic nystagmus 10.0
50 ezh2-related overgrowth 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:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
8 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
11 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
12 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
13 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
14 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
15 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
16 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
17 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
18 precocious puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000826
19 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
20 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
21 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
22 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
23 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
24 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
25 advanced eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006288
26 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
27 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
28 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
29 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
30 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
31 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
32 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
33 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
34 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
35 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
36 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
37 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
38 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
39 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
40 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
41 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
42 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
43 renal duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000075
44 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
45 neoplasm of the nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0004375
46 sacrococcygeal teratoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030736
47 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671
48 abnormal fingernail morphology 32 occasional (7.5%) HP:0001231
49 nystagmus 32 HP:0000639
50 pes planus 32 HP:0001763

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
dolichocephaly

Skeletal Limbs:
genu valgum
joint laxity
long arm span

Neurologic Central Nervous System:
seizures
hyperreflexia
neonatal hypotonia
ventriculomegaly
poor coordination
more
Cardiovascular Vascular:
patent ductus arteriosus

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

Head And Neck Eyes:
nystagmus
strabismus
downslanting palpebral fissures
hyperopia

Skeletal Feet:
pes planus
large feet

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 DPH1 GPC3 NRK NSD1 RASIP1 SETD2
2 growth/size/body region MP:0005378 9.65 APC2 DPH1 GPC3 IGFBP3 NFIX NPAS3
3 mortality/aging MP:0010768 9.32 DPH1 GPC3 NFIX NPAS3 NRK NSD1

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:

41
Eye, Bone, Heart, Skin, Kidney, Testes, Brain

Publications for Sotos Syndrome 1

Articles related to Sotos Syndrome 1:

(show top 50) (show all 444)
# Title Authors PMID Year
1
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 9 38 4 8 71
15942875 2005
2
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 9 38 4 8 71
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. 9 38 4 8 71
12464997 2003
4
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 9 38 8 71
16329110 2006
5
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. 9 38 8 71
12525543 2003
6
Haploinsufficiency of NSD1 causes Sotos syndrome. 9 38 8 71
11896389 2002
7
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 9 38 4 8
14571271 2003
8
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. 38 4 8
14517949 2003
9
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. 38 4 8
10766982 2000
10
Sotos syndrome: evolution of facial phenotype subjective and objective assessment. 38 4 8
8914735 1996
11
Sotos syndrome: a study of the diagnostic criteria and natural history. 38 4 8
7512144 1994
12
Two cases of Sotos syndrome with novel mutations of the NSD1 gene. 9 38 8
20420030 2010
13
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 9 38 8
19876911 2009
14
Familial gigantism caused by an NSD1 mutation. 9 38 8
16222665 2005
15
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 9 38 8
15720303 2005
16
Evaluation of NSD2 and NSD3 in overgrowth syndromes. 9 38 8
15483650 2005
17
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. 38 8
22012791 2011
18
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. 9 38 4
18001468 2007
19
Sotos syndrome. 9 38 4
16969376 2007
20
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. 9 38 4
16780628 2006
21
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. 9 38 4
16247291 2005
22
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. 9 38 4
16188863 2005
23
NSD1 mutations in Sotos syndrome. 9 38 4
16010675 2005
24
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. 38 8
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. 38 71
15580547 2005
26
Sotos Syndrome 38 71
20301652 2004
27
Clinical features of NSD1-positive Sotos syndrome. 9 38 4
15365454 2004
28
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 9 38 4
12807965 2003
29
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. 38 71
12676901 2003
30
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). 38 8
11807869 2002
31
Sacrococcygeal teratoma in two cases of Sotos syndrome. 38 8
11078573 2000
32
Gastric carcinoma in Sotos syndrome (cerebral gigantism). 38 8
10434127 1999
33
Sotos syndrome and cutis laxa. 38 8
9950366 1999
34
The syndromes of Sotos and Weaver: reports and review. 38 8
9781911 1998
35
Congenital heart defects in Sotos syndrome. 38 8
9781915 1998
36
Identical twins discordant for Sotos syndrome. 38 8
9781916 1998
37
The neuroimaging findings in Sotos syndrome. 38 8
9021022 1997
38
No evidence for uniparental disomy as a common cause of Sotos syndrome. 38 8
9032642 1997
39
Familial Sotos syndrome: longitudinal study of two additional cases. 38 8
7917124 1994
40
Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? 38 8
1316442 1992
41
High resolution-banded chromosomes from patients with Sotos syndrome. 38 8
2070551 1991
42
Sotos syndrome. 38 8
2231650 1990
43
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) 38 8
2323093 1990
44
Neuroblastoma in a patient with Sotos' syndrome. 38 8
2319581 1990
45
The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? 38 8
3168318 1988
46
Sotos syndrome--autosomal dominant inheritance substantiated. 38 8
4064361 1985
47
Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. 38 8
2581446 1985
48
Metacarpophalangeal pattern profile analysis in Sotos syndrome. 38 8
3993685 1985
49
Investigations in dominant Sotos syndrome. 38 8
6977303 1981
50
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. 38 8
7449178 1980

Variations for Sotos Syndrome 1

ClinVar genetic disease variations for Sotos Syndrome 1:

6 (show top 50) (show all 371)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1): c.1549C> T (p.Gln517Ter) single nucleotide variant Pathogenic rs1131692328 5:176636949-176636949 5:177209948-177209948
2 NSD1 NM_022455.4(NSD1): c.3004_3005del (p.Lys1002fs) deletion Pathogenic rs1554189941 5:176638404-176638405 5:177211403-177211404
3 NSD1 NM_022455.4(NSD1): c.3922-2_3925delinsG indel Pathogenic rs1554195815 5:176665236-176665241 5:177238235-177238240
4 NSD1 NM_022455.4(NSD1): c.3038C> G (p.Ser1013Ter) single nucleotide variant Pathogenic rs1006906224 5:176638438-176638438 5:177211437-177211437
5 NSD1 NM_022455.4(NSD1): c.1873G> T (p.Gly625Ter) single nucleotide variant Pathogenic rs1286331975 5:176637273-176637273 5:177210272-177210272
6 NSD1 NM_022455.4(NSD1): c.2314del (p.Ala772fs) deletion Pathogenic rs1554189482 5:176637714-176637714 5:177210713-177210713
7 NSD1 NM_022455.4(NSD1): c.4302+1G> A single nucleotide variant Pathogenic 5:176666867-176666867 5:177239866-177239866
8 NSD1 NM_022455.4(NSD1): c.5724del (p.Ser1909fs) deletion Pathogenic 5:176707666-176707667 5:177280666-177280666
9 NSD1 NSD1, 1.9-MB DEL deletion Pathogenic
10 NSD1 NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic rs121908067 5:176636710-176636710 5:177209709-177209709
11 NSD1 NM_022455.4(NSD1): c.3536del (p.Glu1179fs) deletion Pathogenic 5:176638936-176638936 5:177211935-177211935
12 NSD1 NM_022455.4(NSD1): c.5997_5998insT (p.Thr2000fs) insertion Pathogenic 5:176709570-176709571 5:177282569-177282570
13 NSD1 NM_022455.4(NSD1): c.6151+1G> A single nucleotide variant Pathogenic 5:176710930-176710930 5:177283929-177283929
14 NSD1 NM_022455.4(NSD1): c.6429C> G (p.His2143Gln) single nucleotide variant Pathogenic rs121908068 5:176719125-176719125 5:177292124-177292124
15 NSD1 NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser) single nucleotide variant Pathogenic rs121908069 5:176720917-176720917 5:177293916-177293916
16 NSD1 NM_022455.4(NSD1): c.6450dup (p.Lys2151fs) duplication Pathogenic rs864309639 5:176719146-176719146 5:177292145-177292145
17 NSD1 NM_022455.4(NSD1): c.896del (p.Ser299fs) deletion Pathogenic 5:176563000-176563000 5:177135999-177135999
18 NSD1 NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter) single nucleotide variant Pathogenic rs121908070 5:176665274-176665274 5:177238273-177238273
19 NSD1 NM_022455.4(NSD1): c.4977dup (p.Arg1660fs) duplication Pathogenic 5:176687000-176687000 5:177259999-177259999
20 NSD1 NM_022455.4(NSD1): c.7968_7971del (p.Gln2656fs) deletion Pathogenic 5:176722337-176722340 5:177295336-177295339
21 NSD1 NM_022455.4(NSD1): c.4771C> T (p.His1591Tyr) single nucleotide variant Pathogenic rs1554199368 5:176683957-176683957 5:177256956-177256956
22 NSD1 NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr) single nucleotide variant Pathogenic rs121908071 5:176720974-176720974 5:177293973-177293973
23 NSD1 NM_022455.4(NSD1): c.5279_5282del (p.Val1760fs) deletion Pathogenic rs398124379 5:176694695-176694698 5:177267694-177267697
24 NSD1 NM_022455.4(NSD1): c.1077del (p.Arg359fs) deletion Pathogenic rs587784068 5:176631134-176631134 5:177204133-177204133
25 NSD1 NM_022455.4(NSD1): c.2639del (p.Gly880fs) deletion Pathogenic rs587784087 5:176638039-176638039 5:177211038-177211038
26 NSD1 NM_022455.4(NSD1): c.2654C> A (p.Ser885Ter) single nucleotide variant Pathogenic rs587784088 5:176638054-176638054 5:177211053-177211053
27 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 5:176637210-176637210 5:177210209-177210209
28 NSD1 NM_022455.4(NSD1): c.1831C> T (p.Arg611Ter) single nucleotide variant Pathogenic rs587784077 5:176637231-176637231 5:177210230-177210230
29 NSD1 NM_022455.4(NSD1): c.2014_2018del (p.Thr672fs) deletion Pathogenic rs587784078 5:176637414-176637418 5:177210413-177210417
30 NSD1 NM_022455.4(NSD1): c.2048del (p.Lys683fs) deletion Pathogenic rs587784079 5:176637448-176637448 5:177210447-177210447
31 NSD1 NM_022455.4(NSD1): c.2049_2053del (p.Ile684fs) deletion Pathogenic rs587784080 5:176637449-176637453 5:177210448-177210452
32 NSD1 NM_022455.4(NSD1): c.2064del (p.Arg688fs) deletion Pathogenic rs587784081 5:176637464-176637464 5:177210463-177210463
33 NSD1 NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs587784071 5:176636662-176636662 5:177209661-177209661
34 NSD1 NM_022455.4(NSD1): c.1456del (p.Ser486fs) deletion Pathogenic rs587784073 5:176636856-176636856 5:177209855-177209855
35 NSD1 NM_022455.4(NSD1): c.2124_2127del (p.His708fs) deletion Pathogenic rs587784082 5:176637524-176637527 5:177210523-177210526
36 NSD1 NM_022455.4(NSD1): c.2276C> G (p.Ser759Ter) single nucleotide variant Pathogenic rs587784084 5:176637676-176637676 5:177210675-177210675
37 NSD1 NM_022455.4(NSD1): c.2295del (p.Ser766fs) deletion Pathogenic rs587784085 5:176637695-176637695 5:177210694-177210694
38 NSD1 NM_022455.4(NSD1): c.2339C> A (p.Ser780Ter) single nucleotide variant Pathogenic rs201327209 5:176637739-176637739 5:177210738-177210738
39 NSD1 NM_022455.4(NSD1): c.2386_2389del (p.Glu796fs) deletion Pathogenic rs587784086 5:176637786-176637789 5:177210785-177210788
40 NSD1 NM_022455.4(NSD1): c.2827del (p.Asp943fs) deletion Pathogenic rs587784089 5:176638227-176638227 5:177211226-177211226
41 NSD1 NM_022455.4(NSD1): c.3044_3045GT[1] (p.Val1016fs) short repeat Pathogenic rs587784094 5:176638446-176638447 5:177211445-177211446
42 NSD1 NM_022455.4(NSD1): c.3067C> T (p.Arg1023Ter) single nucleotide variant Pathogenic rs587784095 5:176638467-176638467 5:177211466-177211466
43 NSD1 NM_022455.4(NSD1): c.3091C> T (p.Arg1031Ter) single nucleotide variant Pathogenic rs587784096 5:176638491-176638491 5:177211490-177211490
44 NSD1 NM_022455.4(NSD1): c.3183_3184TG[1] (p.Val1062fs) short repeat Pathogenic rs587784097 5:176638585-176638586 5:177211584-177211585
45 NSD1 NM_022455.4(NSD1): c.3214C> T (p.Arg1072Ter) single nucleotide variant Pathogenic rs587784098 5:176638614-176638614 5:177211613-177211613
46 NSD1 NM_022455.4(NSD1): c.3293del (p.Thr1098fs) deletion Pathogenic rs587784099 5:176638693-176638693 5:177211692-177211692
47 NSD1 NM_022455.4(NSD1): c.3295del (p.Ser1099fs) deletion Pathogenic rs587784100 5:176638695-176638695 5:177211694-177211694
48 NSD1 NM_022455.4(NSD1): c.3379_3380CT[2] (p.Ser1128fs) short repeat Pathogenic rs587784101 5:176638783-176638784 5:177211782-177211783
49 NSD1 NM_022455.4(NSD1): c.2952_2953CT[1] (p.Ser985fs) short repeat Pathogenic rs587784092 5:176638354-176638355 5:177211353-177211354
50 NSD1 NM_022455.4(NSD1): c.2956del (p.Ala986fs) deletion Pathogenic rs587784093 5:176638356-176638356 5:177211355-177211355

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

74 (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 Chromosom 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:

37
# 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
11.28 SETD2 NSD2 NSD1
2 10.57 SETD2 NSD2 NSD1

GO Terms for Sotos Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.61 SETD2 NSD2 NSD1
2 vasculogenesis GO:0001570 9.43 ZFP36L1 SETD2 RASIP1
3 embryonic organ development GO:0048568 9.4 ZFP36L1 SETD2
4 histone lysine methylation GO:0034968 9.37 SETD2 NSD1
5 glycosaminoglycan biosynthetic process GO:0006024 9.33 XYLT2 GPC3 B4GALT7
6 glycosaminoglycan metabolic process GO:0030203 9.32 XYLT2 B4GALT7
7 histone H4-K20 methylation GO:0034770 8.96 NSD2 NSD1
8 histone H3-K36 methylation GO:0010452 8.8 SETD2 NSD2 NSD1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 XYLT2 SETD2 RNF135 NSD2 NSD1 NRK
2 methyltransferase activity GO:0008168 9.5 SETD2 NSD2 NSD1
3 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.26 SETD2 NSD1
4 histone methyltransferase activity (H4-K20 specific) GO:0042799 9.16 NSD2 NSD1
5 histone-lysine N-methyltransferase activity GO:0018024 8.8 SETD2 NSD2 NSD1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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