SOTOS1
MCID: STS008
MIFTS: 56

Sotos Syndrome 1 (SOTOS1)

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

Aliases & Classifications for Sotos Syndrome 1

MalaCards integrated aliases for Sotos Syndrome 1:

Name: Sotos Syndrome 1 57 75 29 13 6
Sotos Syndrome 57 12 76 24 53 25 54 59 75 37 29 55 6 44 15 40
Cerebral Gigantism 57 12 76 53 25 54 59 75
Chromosome 5q35 Deletion Syndrome 57 75
Sotos' Syndrome 25 73
Sotos1 57 75
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 More than 100 parents of individuals with confirmed sotos syndrome have been tested [douglas et al 2003, rio et al 2003, türkmen et al 2003, tatton-brown et al 2005b]. to date, an nsd1 pathogenic variant has not been identified in an unaffected parent or an unaffected sib. thus, sotos syndrome appears to be a fully penetrant condition...

Classifications:



Summaries for Sotos Syndrome 1

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.

MalaCards based summary : Sotos Syndrome 1, also known as sotos syndrome, is related to sotos syndrome 2 and cerebral gigantism jaw cysts, 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 testes, and related phenotypes are tall stature and high palate

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.

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.

NIH Rare Diseases : 53 Sotos syndromeis 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).

UniProtKB/Swiss-Prot : 75 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 : 76 Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by... more...

Description from OMIM: 117550
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 67)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 2 12.4
2 cerebral gigantism jaw cysts 12.3
3 sotos syndrome 3 12.3
4 vasquez hurst sotos syndrome 11.9
5 weaver syndrome 11.6
6 gigantism 10.4
7 cerebritis 10.4
8 eastern equine encephalitis 10.1 DPH1 XYLT2
9 marshall-smith syndrome 10.0 NFIX NSD1
10 beckwith-wiedemann syndrome 9.9
11 scoliosis 9.9
12 prader-willi syndrome 9.8
13 neuroblastoma 9.8
14 aging 9.8
15 autoimmune lymphoproliferative syndrome, type v 9.8
16 leukemia 9.8
17 left ventricular noncompaction 9.8
18 microcephaly 9.8
19 hyperinsulinemic hypoglycemia 9.8
20 epilepsy 9.8
21 cutis laxa 9.8
22 retinitis 9.8
23 hypoglycemia 9.8
24 liver cirrhosis 9.8 GPC3 IGFBP3 SLC17A5
25 strabismus 9.7
26 hypotonia 9.7
27 hypertelorism 9.7
28 peripheral dysostosis 9.7
29 retinoblastoma 9.7
30 septooptic dysplasia 9.7
31 teeth, supernumerary 9.7
32 renal hypodysplasia/aplasia 1 9.7
33 williams-beuren syndrome 9.7
34 autism 9.7
35 ehlers-danlos syndrome, kyphoscoliotic type, 1 9.7
36 asthma 9.7
37 macular degeneration, age-related, 1 9.7
38 lipedema 9.7
39 renal hypodysplasia/aplasia 3 9.7
40 west syndrome 9.7
41 cataract 9.7
42 lymphedema 9.7
43 sacrococcygeal teratoma 9.7
44 lymphoma 9.7
45 simpson-golabi-behmel syndrome 9.7
46 parotitis 9.7
47 hypoparathyroidism 9.7
48 nephrocalcinosis 9.7
49 pneumothorax 9.7
50 dysostosis 9.7

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



Diseases related to Sotos Syndrome 1

Symptoms & Phenotypes for Sotos Syndrome 1

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

Human phenotypes related to Sotos Syndrome 1:

59 32 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
4 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
5 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
7 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
8 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
9 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
10 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
15 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
16 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
17 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
18 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
19 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
20 precocious puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000826
21 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
22 hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001943
23 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
24 advanced eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006288
25 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
26 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
27 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
28 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
29 renal duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000075
30 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
31 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
32 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
33 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
34 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
35 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
36 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
37 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
38 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
39 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
40 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
41 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
42 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
43 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
44 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
45 neoplasm of the nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0004375
46 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
47 sacrococcygeal teratoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030736
48 abnormality of the ureter 59 Occasional (29-5%)
49 abnormality of the cardiac septa 59 Occasional (29-5%)
50 neoplasm 59 Occasional (29-5%)

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 9.5 ZFP36L1 DPH1 GPC3 NRK NSD1 RASIP1
2 growth/size/body region MP:0005378 9.32 APC2 DPH1 GPC3 IGFBP3 NFIX NSD2

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 1 29 NSD1
2 Sotos Syndrome 29

Anatomical Context for Sotos Syndrome 1

MalaCards organs/tissues related to Sotos Syndrome 1:

41
Eye, Bone, Testes, Heart, Thyroid, Kidney, Lung

Publications for Sotos Syndrome 1

Articles related to Sotos Syndrome 1:

(show top 50) (show all 229)
# Title Authors Year
1
Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene. ( 28328121 )
2017
2
Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis. ( 28399120 )
2017
3
Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. ( 28457852 )
2017
4
Severe connective tissue laxity including aortic dilatation in Sotos syndrome. ( 26613968 )
2016
5
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. ( 27834868 )
2016
6
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
7
Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor. ( 26738611 )
2016
8
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. ( 26927468 )
2016
9
Clinical and molecular heterogeneity in brazilian patients with sotos syndrome. ( 25852445 )
2015
10
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. ( 25753423 )
2015
11
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. ( 25712828 )
2015
12
Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1. ( 25887879 )
2015
13
Sotos syndrome. ( 25345080 )
2014
14
Dornase alpha inhalations as a treatment option for recurrent lower respiratory tract infections in a child with Sotos syndrome. ( 24899541 )
2014
15
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome. ( 25510705 )
2014
16
First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. ( 24795065 )
2014
17
Pneumothorax from subpleural blebs-a new association of sotos syndrome? ( 24458726 )
2014
18
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. ( 24819041 )
2014
19
Low grade glioma in an adult patient with Sotos syndrome. ( 25304431 )
2014
20
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions. ( 24670087 )
2014
21
Sotos syndrome 1 and 2. ( 25345081 )
2014
22
The otolaryngologic manifestations of Sotos syndrome. ( 24060089 )
2013
23
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. ( 23190751 )
2013
24
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome. ( 23239432 )
2013
25
Ovarian fibromatosis and sotos syndrome with a new genetic mutation. ( 23333153 )
2013
26
A case of Sotos syndrome with neuroblastoma. ( 23211691 )
2013
27
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. ( 23369838 )
2013
28
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? ( 23913520 )
2013
29
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings. ( 24192683 )
2013
30
A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. ( 22790336 )
2012
31
Generation of the Sotos syndrome deletion in mice. ( 22926222 )
2012
32
Diaphragmatic hernia: a previously unreported association with Sotos syndrome. ( 22436238 )
2012
33
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
34
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up. ( 22352460 )
2012
35
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. ( 21204797 )
2012
36
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example. ( 22924495 )
2012
37
Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway. ( 23155469 )
2012
38
Sotos syndrome. ( 22169837 )
2011
39
Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up. ( 21225435 )
2011
40
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome. ( 21084978 )
2011
41
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. ( 21597970 )
2011
42
Autonomously functioning thyroid nodule in a four-year-old boy with Sotos syndrome. ( 21342349 )
2011
43
Deletion of NSD1 exon 14 in Sotos syndrome: first description. ( 21677396 )
2011
44
Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome. ( 21738022 )
2011
45
Sotos syndrome, failure to thrive and parotitis. ( 22715272 )
2011
46
Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. ( 22012791 )
2011
47
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. ( 21834047 )
2011
48
Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome. ( 21677402 )
2011
49
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. ( 21998857 )
2011
50
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. ( 21567906 )
2011

Variations for Sotos Syndrome 1

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

75 (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

ClinVar genetic disease variations for Sotos Syndrome 1:

6
(show top 50) (show all 654)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD1 NSD1, 1.9-MB DEL deletion Pathogenic
2 NSD1 NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic rs121908067 GRCh37 Chromosome 5, 176636710: 176636710
3 NSD1 NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic rs121908067 GRCh38 Chromosome 5, 177209709: 177209709
4 NSD1 NSD1, 1-BP DEL, 3536A deletion Pathogenic
5 NSD1 NSD1, 1-BP INS, 5998T insertion Pathogenic
6 NSD1 NSD1, IVS20DS, G-A, +1 single nucleotide variant Pathogenic
7 NSD1 NM_022455.4(NSD1): c.6429C> G (p.His2143Gln) single nucleotide variant Pathogenic rs121908068 GRCh37 Chromosome 5, 176719125: 176719125
8 NSD1 NM_022455.4(NSD1): c.6429C> G (p.His2143Gln) single nucleotide variant Pathogenic rs121908068 GRCh38 Chromosome 5, 177292124: 177292124
9 NSD1 NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser) single nucleotide variant Pathogenic rs121908069 GRCh37 Chromosome 5, 176720917: 176720917
10 NSD1 NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser) single nucleotide variant Pathogenic rs121908069 GRCh38 Chromosome 5, 177293916: 177293916
11 NSD1 NM_022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs) duplication Pathogenic rs864309639 GRCh37 Chromosome 5, 176719146: 176719146
12 NSD1 NM_022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs) duplication Pathogenic rs864309639 GRCh38 Chromosome 5, 177292145: 177292145
13 NSD1 NSD1, 1-BP DEL, 896C deletion Pathogenic
14 NSD1 NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter) single nucleotide variant Pathogenic rs121908070 GRCh37 Chromosome 5, 176665274: 176665274
15 NSD1 NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter) single nucleotide variant Pathogenic rs121908070 GRCh38 Chromosome 5, 177238273: 177238273
16 NSD1 NSD1, 1-BP INS, 4976G insertion Pathogenic
17 NSD1 NSD1, 4-BP DEL, 7968GACA deletion Pathogenic
18 NSD1 NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr) single nucleotide variant Pathogenic rs121908071 GRCh37 Chromosome 5, 176720974: 176720974
19 NSD1 NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr) single nucleotide variant Pathogenic rs121908071 GRCh38 Chromosome 5, 177293973: 177293973
20 NSD1 NM_022455.4(NSD1): c.2349delA (p.Lys783Asnfs) deletion Pathogenic rs398124374 GRCh37 Chromosome 5, 176637749: 176637749
21 NSD1 NM_022455.4(NSD1): c.2349delA (p.Lys783Asnfs) deletion Pathogenic rs398124374 GRCh38 Chromosome 5, 177210748: 177210748
22 NSD1 NM_022455.4(NSD1): c.5279_5282delTCTG (p.Val1760Glyfs) deletion Pathogenic rs398124379 GRCh37 Chromosome 5, 176694695: 176694698
23 NSD1 NM_022455.4(NSD1): c.5279_5282delTCTG (p.Val1760Glyfs) deletion Pathogenic rs398124379 GRCh38 Chromosome 5, 177267694: 177267697
24 NSD1 NM_022455.4(NSD1): c.6463+1G> A single nucleotide variant Pathogenic rs398124381 GRCh37 Chromosome 5, 176719160: 176719160
25 NSD1 NM_022455.4(NSD1): c.6463+1G> A single nucleotide variant Pathogenic rs398124381 GRCh38 Chromosome 5, 177292159: 177292159
26 NSD1 NM_022455.4(NSD1): c.6538_6539insC (p.Ser2180Thrfs) insertion Pathogenic rs398124383 GRCh37 Chromosome 5, 176720907: 176720908
27 NSD1 NM_022455.4(NSD1): c.6538_6539insC (p.Ser2180Thrfs) insertion Pathogenic rs398124383 GRCh38 Chromosome 5, 177293906: 177293907
28 NSD1 NM_022455.4(NSD1): c.108A> G (p.Gln36=) single nucleotide variant Uncertain significance rs549091873 GRCh37 Chromosome 5, 176562212: 176562212
29 NSD1 NM_022455.4(NSD1): c.108A> G (p.Gln36=) single nucleotide variant Uncertain significance rs549091873 GRCh38 Chromosome 5, 177135211: 177135211
30 NSD1 NM_022455.4(NSD1): c.142A> G (p.Met48Val) single nucleotide variant Uncertain significance rs200735877 GRCh37 Chromosome 5, 176562246: 176562246
31 NSD1 NM_022455.4(NSD1): c.142A> G (p.Met48Val) single nucleotide variant Uncertain significance rs200735877 GRCh38 Chromosome 5, 177135245: 177135245
32 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh37 Chromosome 5, 176562443: 176562443
33 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh38 Chromosome 5, 177135442: 177135442
34 NSD1 NM_022455.4(NSD1): c.1077delG (p.Arg359Serfs) deletion Pathogenic rs587784068 GRCh37 Chromosome 5, 176631134: 176631134
35 NSD1 NM_022455.4(NSD1): c.1077delG (p.Arg359Serfs) deletion Pathogenic rs587784068 GRCh38 Chromosome 5, 177204133: 177204133
36 NSD1 NM_022455.4(NSD1): c.1149C> T (p.Ile383=) single nucleotide variant Conflicting interpretations of pathogenicity rs34921128 GRCh37 Chromosome 5, 176631206: 176631206
37 NSD1 NM_022455.4(NSD1): c.1149C> T (p.Ile383=) single nucleotide variant Conflicting interpretations of pathogenicity rs34921128 GRCh38 Chromosome 5, 177204205: 177204205
38 NSD1 NM_022455.4(NSD1): c.1224A> G (p.Gly408=) single nucleotide variant Uncertain significance rs587784069 GRCh37 Chromosome 5, 176631281: 176631281
39 NSD1 NM_022455.4(NSD1): c.1224A> G (p.Gly408=) single nucleotide variant Uncertain significance rs587784069 GRCh38 Chromosome 5, 177204280: 177204280
40 NSD1 NM_022455.4(NSD1): c.1237-10T> C single nucleotide variant Uncertain significance rs587784070 GRCh37 Chromosome 5, 176636627: 176636627
41 NSD1 NM_022455.4(NSD1): c.1237-10T> C single nucleotide variant Uncertain significance rs587784070 GRCh38 Chromosome 5, 177209626: 177209626
42 NSD1 NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs587784071 GRCh37 Chromosome 5, 176636662: 176636662
43 NSD1 NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs587784071 GRCh38 Chromosome 5, 177209661: 177209661
44 NSD1 NM_022455.4(NSD1): c.1428G> A (p.Leu476=) single nucleotide variant Uncertain significance rs587784072 GRCh37 Chromosome 5, 176636828: 176636828
45 NSD1 NM_022455.4(NSD1): c.1428G> A (p.Leu476=) single nucleotide variant Uncertain significance rs587784072 GRCh38 Chromosome 5, 177209827: 177209827
46 NSD1 NM_022455.4(NSD1): c.1456delT (p.Ser486Leufs) deletion Pathogenic rs587784073 GRCh37 Chromosome 5, 176636856: 176636856
47 NSD1 NM_022455.4(NSD1): c.1456delT (p.Ser486Leufs) deletion Pathogenic rs587784073 GRCh38 Chromosome 5, 177209855: 177209855
48 NSD1 NM_022455.4(NSD1): c.1471G> A (p.Glu491Lys) single nucleotide variant Uncertain significance rs587784074 GRCh37 Chromosome 5, 176636871: 176636871
49 NSD1 NM_022455.4(NSD1): c.1471G> A (p.Glu491Lys) single nucleotide variant Uncertain significance rs587784074 GRCh38 Chromosome 5, 177209870: 177209870
50 NSD1 NM_022455.4(NSD1): c.1558G> A (p.Ala520Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs559617787 GRCh37 Chromosome 5, 176636958: 176636958

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
11.48 NSD1 NSD2 SETD2
2 10.95 HIST1H1E NSD1 SETD2
3 10.57 NSD1 NSD2 SETD2

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 chromosome GO:0005694 8.92 HIST1H1E NSD1 NSD2 SETD2

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

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.58 NSD1 NSD2 SETD2
2 vasculogenesis GO:0001570 9.5 RASIP1 SETD2 ZFP36L1
3 embryonic organ development GO:0048568 9.43 SETD2 ZFP36L1
4 glycosaminoglycan biosynthetic process GO:0006024 9.43 B4GALT7 GPC3 XYLT2
5 histone lysine methylation GO:0034968 9.37 NSD1 SETD2
6 histone H4-K20 methylation GO:0034770 9.16 NSD1 NSD2
7 glycosaminoglycan metabolic process GO:0030203 9.13 B4GALT7 GPC3 XYLT2
8 histone H3-K36 methylation GO:0010452 8.8 NSD1 NSD2 SETD2

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 9.86 B4GALT7 DPH1 NRK NSD1 NSD2 RNF135
2 methyltransferase activity GO:0008168 9.5 NSD1 NSD2 SETD2
3 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.16 NSD1 SETD2
4 histone methyltransferase activity (H4-K20 specific) GO:0042799 8.96 NSD1 NSD2
5 histone-lysine N-methyltransferase activity GO:0018024 8.8 NSD1 NSD2 SETD2

Sources for Sotos Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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