MCID: STS008
MIFTS: 54

Sotos Syndrome 1

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

Aliases & Classifications for Sotos Syndrome 1

MalaCards integrated aliases for Sotos Syndrome 1:

Name: Sotos Syndrome 1 54 24 71 29 13
Sotos Syndrome 12 23 50 25 51 56 71 29 52 42 14
Cerebral Gigantism 12 50 24 25 51 56 71
Sotos' Syndrome 25 69
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 50
Chromosome 5q35 Deletion Syndrome 71
Sotos Sequence 25
Sotos1 71

Characteristics:

Orphanet epidemiological data:

56
sotos syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
sotos syndrome 1:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
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 : 51 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 beckwith-wiedemann syndrome and sotos syndrome 2, and has symptoms including scoliosis, strabismus and ventriculomegaly. An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are PKMTs methylate histone lysines and Lysine degradation. The drugs Efavirenz and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and testes, and related phenotypes are embryo and growth/size/body region

NIH Rare Diseases : 50 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). last updated: 5/27/2015

UniProtKB/Swiss-Prot : 71 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.

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.

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.

Wikipedia : 72 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 3 Sotos Syndrome 2

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

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 21.7 APC2 B4GALT7 DPH1 GPC3 IGFBP3 NFIX
2 sotos syndrome 2 12.3
3 cerebral gigantism jaw cysts 12.2
4 sotos syndrome 3 12.1
5 vasquez hurst sotos syndrome 11.8
6 weaver syndrome 11.4
7 lethal congenital contractural syndrome 3 10.4 NFIX NSD1
8 gigantism 10.3
9 cerebritis 10.3
10 bipolar ll disorder 10.0 GPC3 VPS13B
11 scoliosis 9.8
12 epilepsy 9.8
13 hypoglycemia 9.8
14 leukemia 9.8
15 cutis laxa 9.8
16 neuroblastoma 9.8
17 fibroma 9.8
18 retinitis 9.8
19 left ventricular noncompaction 9.8
20 prader-willi syndrome 9.8
21 microcephaly 9.8
22 hyperinsulinemic hypoglycemia 9.8
23 lymphedema 9.7 GPC3 IGFBP3 SLC17A5
24 hypotonia 9.6
25 strabismus 9.6
26 west syndrome 9.6
27 autistic disorder 9.6
28 dysostosis 9.6
29 polycystic kidney disease 9.6
30 cataract 9.6
31 cervicitis 9.6
32 fibromatosis 9.6
33 sacrococcygeal teratoma 9.6
34 teratoma 9.6
35 germ cells tumors 9.6
36 asthma 9.6
37 lymphoma 9.6
38 glioma 9.6
39 simpson-golabi-behmel syndrome 9.6
40 hypertrichosis 9.6
41 williams-beuren syndrome 9.6
42 ganglioglioma 9.6
43 ovarian fibroma 9.6
44 retinoblastoma 9.6
45 parotitis 9.6
46 kidney disease 9.6
47 hepatoblastoma 9.6
48 hypoparathyroidism 9.6
49 thyroiditis 9.6
50 nephrocalcinosis 9.6

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:

54

Head And Neck- Eyes:
nystagmus
strabismus
downslanting palpebral fissures
hyperopia

Skeletal- Limbs:
joint laxity
genu valgum
long arm span

Cardiovascular- Vascular:
patent ductus arteriosus

Head And Neck- Head:
macrocephaly
dolichocephaly

Skeletal- Feet:
pes planus
large feet

Skeletal:
advanced bone age

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

Growth- Other:
birth length often more increased than weight

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

Skin Nails & Hair- Hair:
sparse hair in frontoparietal area

Neurologic- Central Nervous System:
ventriculomegaly
hyperreflexia
developmental delay
seizures
neonatal hypotonia
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Head And Neck- Face:
frontal bossing
pointed chin
prognathism

Head And Neck- Ears:
conductive hearing loss
otitis media

Neoplasia:
wilms tumor

Head And Neck- Mouth:
high arched palate

Growth- Weight:
mean full term birth weight 3.9kg

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

Skin Nails & Hair- Nails:
thin brittle fingernails


Clinical features from OMIM:

117550

Human phenotypes related to Sotos Syndrome 1:

56 32 (show top 50) (show all 72)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
4 hyperreflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
7 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 coarse facial features 56 32 occasional (7.5%) Occasional (29-5%) HP:0000280
9 prominent forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0011220
10 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
11 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
12 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
13 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
15 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
16 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 genu valgum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002857
18 genu varum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002970
19 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
20 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
21 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
22 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
23 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
24 congenital hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001374
25 high palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000218
26 tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0000098
27 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
28 craniosynostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001363
29 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
30 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
31 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
32 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
33 renal duplication 56 32 occasional (7.5%) Occasional (29-5%) HP:0000075
34 precocious puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000826
35 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
36 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
37 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
38 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
39 behavioral abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000708
40 abnormality of the fingernails 56 32 occasional (7.5%) Occasional (29-5%) HP:0001231
41 abnormality of immune system physiology 56 32 frequent (33%) Frequent (79-30%) HP:0010978
42 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
43 abnormality of the cardiac septa 56 32 occasional (7.5%) Occasional (29-5%) HP:0001671
44 neoplasm of the nervous system 56 32 occasional (7.5%) Occasional (29-5%) HP:0004375
45 advanced eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0006288
46 aplasia/hypoplasia of the corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0007370
47 accelerated skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005616
48 nystagmus 32 HP:0000639
49 joint laxity 32 HP:0001388
50 atrial septal defect 32 HP:0001631

UMLS symptoms related to Sotos Syndrome 1:


seizures, joint laxity

MGI Mouse Phenotypes related to Sotos Syndrome 1:

44
id 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 RASIP1 SETD2 SLC17A5 ZFP36L1 APC2 DPH1
3 mortality/aging MP:0010768 9.32 DPH1 GPC3 NFIX NRK NSD1 NSD2

Drugs & Therapeutics for Sotos Syndrome 1

Drugs for Sotos Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
2
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
3
Lopinavir Approved Phase 4 192725-17-0 92727
4
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
5
Zidovudine Approved Phase 4 30516-87-1 35370
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7 Anti-HIV Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antimetabolites Phase 4
10 Anti-Retroviral Agents Phase 4
11 Antiviral Agents Phase 4
12 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
13 Cytochrome P-450 CYP3A Inducers Phase 4
14 Cytochrome P-450 CYP3A Inhibitors Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 HIV Protease Inhibitors Phase 4
17 Nucleic Acid Synthesis Inhibitors Phase 4
18
protease inhibitors Phase 4
19 Reverse Transcriptase Inhibitors Phase 4
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Antipyretics Phase 4
25 Antirheumatic Agents Phase 4
26 Cyclooxygenase Inhibitors Phase 4
27 Fibrinolytic Agents Phase 4
28 Peripheral Nervous System Agents Phase 4
29 Platelet Aggregation Inhibitors Phase 4
30 Antipsychotic Agents Phase 2
31 Central Nervous System Depressants Phase 2
32 Psychotropic Drugs Phase 2
33 Tranquilizing Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
2 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4 aspirin;aspirin
3 A Study of RO4917838 in Combination With Antipsychotic Treatment in Patients With Schizophrenia. Completed NCT00616798 Phase 2 RO4917838;RO4917838;RO4917838;Placebo;Standard antipsychotic therapy
4 Third International Study on Mechanical Ventilation Completed NCT01093482
5 Effects of Pain Neuroscience Education in Fibromyalgia Not yet recruiting NCT03044067

Search 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:

id Genetic test Affiliating Genes
1 Sotos Syndrome 1 29 24 NSD1
2 Sotos Syndrome 29

Anatomical Context for Sotos Syndrome 1

MalaCards organs/tissues related to Sotos Syndrome 1:

39
Eye, Bone, Testes

Publications for Sotos Syndrome 1

Articles related to Sotos Syndrome 1:

id Title Authors Year
1
Sotos syndrome 1 and 2. ( 25345081 )
2014

Variations for Sotos Syndrome 1

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

71 (show all 14)
id 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 196)
id 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 NSD1, 1-BP DEL, 3536A deletion Pathogenic
4 NSD1 NSD1, 1-BP INS, 5998T insertion Pathogenic
5 NSD1 NSD1, IVS20DS, G-A, +1 single nucleotide variant Pathogenic
6 NSD1 NM_022455.4(NSD1): c.6429C> G (p.His2143Gln) single nucleotide variant Pathogenic rs121908068 GRCh37 Chromosome 5, 176719125: 176719125
7 NSD1 NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser) single nucleotide variant Pathogenic rs121908069 GRCh37 Chromosome 5, 176720917: 176720917
8 NSD1 NM_022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs) duplication Pathogenic rs864309639 GRCh37 Chromosome 5, 176719146: 176719146
9 NSD1 NSD1, 1-BP DEL, 896C deletion Pathogenic
10 NSD1 NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter) single nucleotide variant Pathogenic rs121908070 GRCh37 Chromosome 5, 176665274: 176665274
11 NSD1 NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr) single nucleotide variant Pathogenic rs121908071 GRCh37 Chromosome 5, 176720974: 176720974
12 NSD1 NM_022455.4(NSD1): c.2349delA (p.Lys783Asnfs) deletion Pathogenic rs398124374 GRCh37 Chromosome 5, 176637749: 176637749
13 NSD1 NM_022455.4(NSD1): c.5279_5282delTCTG (p.Val1760Glyfs) deletion Pathogenic rs398124379 GRCh37 Chromosome 5, 176694695: 176694698
14 NSD1 NM_022455.4(NSD1): c.6463+1G> A single nucleotide variant Pathogenic rs398124381 GRCh37 Chromosome 5, 176719160: 176719160
15 NSD1 NM_022455.4(NSD1): c.6538_6539insC (p.Ser2180Thrfs) insertion Pathogenic rs398124383 GRCh37 Chromosome 5, 176720907: 176720908
16 NSD1 NM_022455.4(NSD1): c.1077delG (p.Arg359Serfs) deletion Pathogenic rs587784068 GRCh37 Chromosome 5, 176631134: 176631134
17 NSD1 NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs587784071 GRCh37 Chromosome 5, 176636662: 176636662
18 NSD1 NM_022455.4(NSD1): c.1456delT (p.Ser486Leufs) deletion Pathogenic rs587784073 GRCh37 Chromosome 5, 176636856: 176636856
19 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 GRCh37 Chromosome 5, 176637210: 176637210
20 NSD1 NM_022455.4(NSD1): c.1831C> T (p.Arg611Ter) single nucleotide variant Pathogenic rs587784077 GRCh37 Chromosome 5, 176637231: 176637231
21 NSD1 NM_022455.4(NSD1): c.2014_2018delACAGA (p.Thr672Glufs) deletion Pathogenic rs587784078 GRCh37 Chromosome 5, 176637414: 176637418
22 NSD1 NM_022455.4(NSD1): c.2048delA (p.Lys683Argfs) deletion Pathogenic rs587784079 GRCh37 Chromosome 5, 176637448: 176637448
23 NSD1 NM_022455.4(NSD1): c.2049_2053delGATAA (p.Ile684Valfs) deletion Pathogenic rs587784080 GRCh37 Chromosome 5, 176637449: 176637453
24 NSD1 NM_022455.4(NSD1): c.2064delG (p.Arg688Serfs) deletion Pathogenic rs587784081 GRCh38 Chromosome 5, 177210463: 177210463
25 NSD1 NM_022455.4(NSD1): c.2124_2127delTACA (p.His708Glnfs) deletion Pathogenic rs587784082 GRCh37 Chromosome 5, 176637524: 176637527
26 NSD1 NM_022455.4(NSD1): c.2276C> G (p.Ser759Ter) single nucleotide variant Pathogenic rs587784084 GRCh37 Chromosome 5, 176637676: 176637676
27 NSD1 NM_022455.4(NSD1): c.2295delC (p.Ser766Argfs) deletion Pathogenic rs587784085 GRCh37 Chromosome 5, 176637695: 176637695
28 NSD1 NM_022455.4(NSD1): c.2339C> A (p.Ser780Ter) single nucleotide variant Pathogenic rs201327209 GRCh37 Chromosome 5, 176637739: 176637739
29 NSD1 NM_022455.4(NSD1): c.2386_2389delGAAA (p.Glu796Ilefs) deletion Pathogenic rs587784086 GRCh37 Chromosome 5, 176637786: 176637789
30 NSD1 NM_022455.4(NSD1): c.2639delG (p.Gly880Glufs) deletion Pathogenic rs587784087 GRCh37 Chromosome 5, 176638039: 176638039
31 NSD1 NM_022455.4(NSD1): c.2654C> A (p.Ser885Ter) single nucleotide variant Pathogenic rs587784088 GRCh37 Chromosome 5, 176638054: 176638054
32 NSD1 NM_022455.4(NSD1): c.2827delG (p.Asp943Thrfs) deletion Pathogenic rs587784089 GRCh37 Chromosome 5, 176638227: 176638227
33 NSD1 NM_022455.4(NSD1): c.2954_2955delCT (p.Ser985Cysfs) deletion Pathogenic rs587784092 GRCh37 Chromosome 5, 176638354: 176638355
34 NSD1 NM_022455.4(NSD1): c.2956delG (p.Ala986Hisfs) deletion Pathogenic rs587784093 GRCh37 Chromosome 5, 176638356: 176638356
35 NSD1 NM_022455.4(NSD1): c.3046_3047delGT (p.Val1016Tyrfs) deletion Pathogenic rs587784094 GRCh37 Chromosome 5, 176638446: 176638447
36 NSD1 NM_022455.4(NSD1): c.3067C> T (p.Arg1023Ter) single nucleotide variant Pathogenic rs587784095 GRCh37 Chromosome 5, 176638467: 176638467
37 NSD1 NM_022455.4(NSD1): c.3091C> T (p.Arg1031Ter) single nucleotide variant Pathogenic rs587784096 GRCh37 Chromosome 5, 176638491: 176638491
38 NSD1 NM_022455.4(NSD1): c.3185_3186delTG (p.Val1062Aspfs) deletion Pathogenic rs587784097 GRCh37 Chromosome 5, 176638585: 176638586
39 NSD1 NM_022455.4(NSD1): c.3214C> T (p.Arg1072Ter) single nucleotide variant Pathogenic rs587784098 GRCh37 Chromosome 5, 176638614: 176638614
40 NSD1 NM_022455.4(NSD1): c.3293delC (p.Thr1098Lysfs) deletion Pathogenic rs587784099 GRCh37 Chromosome 5, 176638693: 176638693
41 NSD1 NM_022455.4(NSD1): c.3295delA (p.Ser1099Valfs) deletion Pathogenic rs587784100 GRCh37 Chromosome 5, 176638695: 176638695
42 NSD1 NM_022455.4(NSD1): c.3383_3384delCT (p.Ser1128Phefs) deletion Pathogenic rs587784101 GRCh37 Chromosome 5, 176638783: 176638784
43 NSD1 NM_022455.4(NSD1): c.3578_3582delGTGAC (p.Ser1193Thrfs) deletion Pathogenic rs587784103 GRCh37 Chromosome 5, 176638978: 176638982
44 NSD1 NM_022455.4(NSD1): c.3659_3660delAG (p.Glu1220Alafs) deletion Pathogenic rs587784104 GRCh37 Chromosome 5, 176639059: 176639060
45 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
46 NSD1 NM_022455.4(NSD1): c.3964C> T (p.Arg1322Ter) single nucleotide variant Pathogenic rs587784107 GRCh37 Chromosome 5, 176665280: 176665280
47 NSD1 NM_022455.4(NSD1): c.4057G> T (p.Glu1353Ter) single nucleotide variant Pathogenic rs587784109 GRCh37 Chromosome 5, 176665373: 176665373
48 NSD1 NM_022455.4(NSD1): c.4076C> G (p.Ser1359Ter) single nucleotide variant Pathogenic rs587784110 GRCh37 Chromosome 5, 176665392: 176665392
49 NSD1 NM_022455.4(NSD1): c.4192+2T> G single nucleotide variant Pathogenic rs587784111 GRCh37 Chromosome 5, 176665510: 176665510
50 NSD1 NM_022455.4(NSD1): c.4301delA (p.Lys1434Serfs) deletion Pathogenic rs587784112 GRCh37 Chromosome 5, 176666865: 176666865

Copy number variations for Sotos Syndrome 1 from CNVD:

7 (show all 39)
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 NSD1 NSD2 SETD2
2 10.57 NSD1 NSD2 SETD2

GO Terms for Sotos Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.61 NSD1 NSD2 SETD2
2 glycosaminoglycan biosynthetic process GO:0006024 9.4 B4GALT7 GPC3
3 embryonic organ development GO:0048568 9.37 SETD2 ZFP36L1
4 vasculogenesis GO:0001570 9.33 RASIP1 SETD2 ZFP36L1
5 glycosaminoglycan metabolic process GO:0030203 9.32 B4GALT7 GPC3
6 histone lysine methylation GO:0034968 9.26 NSD1 SETD2
7 histone H4-K20 methylation GO:0034770 8.96 NSD1 NSD2
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:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 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
16 ExPASy
18 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 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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