SOTOS1
MCID: STS008
MIFTS: 51

Sotos Syndrome 1 (SOTOS1) malady

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

Aliases & Classifications for Sotos Syndrome 1

Aliases & Descriptions for Sotos Syndrome 1:

Name: Sotos Syndrome 1 54 24 66 29 13
Sotos Syndrome 12 23 50 25 51 56 66 52 42 14
Cerebral Gigantism 12 50 24 25 51 56 66
Sotos' Syndrome 25 29 69
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 50
Chromosome 5q35 Deletion Syndrome 66
Sotos Sequence 25
Sotos1 66

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;

GeneReviews:

23
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:



External Ids:

OMIM 54 117550
Disease Ontology 12 DOID:14748
ICD10 33 Q87.3
MeSH 42 D058495
NCIt 47 C75019
SNOMED-CT 64 75968004
Orphanet 56 ORPHA821
UMLS via Orphanet 70 C0175695
ICD10 via Orphanet 34 Q87.3
MESH via Orphanet 43 D058495
MedGen 40 C0175695
UMLS 69 C0175695

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 sotos syndrome 2 and cerebral gigantism jaw cysts, and has symptoms including seizures, macrocephaly and hypertelorism. 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 phenotype is mortality/aging.

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 : 50 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). last updated: 5/27/2015

UniProtKB/Swiss-Prot : 66 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 : 71 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

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

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 sotos syndrome 2 12.3
2 cerebral gigantism jaw cysts 12.0
3 vasquez hurst sotos syndrome 11.8
4 weaver syndrome 11.5
5 gigantism 10.3
6 cerebritis 10.3
7 spastic paraplegia 39, autosomal recessive 10.2 NFIX NSD1
8 lymphoblastic lymphoma 10.0 GPC3 IGFBP3 SLC17A5
9 pityriasis rubra pilaris 9.9 B4GALT7 IGFBP3
10 beckwith-wiedemann syndrome 9.8
11 scoliosis 9.8
12 leukemia 9.8
13 cutis laxa 9.8
14 fibroma 9.8
15 neuroblastoma 9.8
16 retinitis 9.8
17 left ventricular noncompaction 9.8
18 microcephaly 9.8
19 prader-willi syndrome 9.8
20 hyperinsulinemic hypoglycemia 9.8
21 epilepsy 9.8
22 hypoglycemia 9.8
23 hypotonia 9.6
24 strabismus 9.6
25 autistic disorder 9.6
26 dysostosis 9.6
27 polycystic kidney disease 9.6
28 cataract 9.6
29 cervicitis 9.6
30 fibromatosis 9.6
31 sacrococcygeal teratoma 9.6
32 teratoma 9.6
33 glioma 9.6
34 lymphoma 9.6
35 asthma 9.6
36 simpson-golabi-behmel syndrome 9.6
37 hypertrichosis 9.6
38 ganglioglioma 9.6
39 ovarian fibroma 9.6
40 williams-beuren syndrome 9.6
41 parotitis 9.6
42 kidney disease 9.6
43 retinoblastoma 9.6
44 hepatoblastoma 9.6
45 hypoparathyroidism 9.6
46 thyroiditis 9.6
47 nephrocalcinosis 9.6
48 retinal degeneration 9.6
49 peripheral dysostosis 9.6
50 learning disability 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 by clinical synopsis from OMIM:

117550

Clinical features from OMIM:

117550

Human phenotypes related to Sotos Syndrome 1:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 obesity 56 32 Frequent (79-30%) HP:0001513
5 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
6 genu valgum 56 32 Occasional (29-5%) HP:0002857
7 high palate 56 32 Very frequent (99-80%) HP:0000218
8 precocious puberty 56 32 Frequent (79-30%) HP:0000826
9 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
10 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
11 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
12 eeg abnormality 56 32 Occasional (29-5%) HP:0002353
13 scoliosis 56 32 Occasional (29-5%) HP:0002650
14 coarse facial features 56 32 Occasional (29-5%) HP:0000280
15 mandibular prognathia 56 32 Very frequent (99-80%) HP:0000303
16 macrotia 56 32 Very frequent (99-80%) HP:0000400
17 behavioral abnormality 56 32 Occasional (29-5%) HP:0000708
18 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
19 anteverted nares 56 32 Frequent (79-30%) HP:0000463
20 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
21 prominent forehead 56 32 Very frequent (99-80%) HP:0011220
22 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
23 micrognathia 56 32 Occasional (29-5%) HP:0000347
24 strabismus 56 32 Occasional (29-5%) HP:0000486
25 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
26 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
27 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
28 abnormality of the fingernails 56 32 Occasional (29-5%) HP:0001231
29 abnormality of immune system physiology 56 32 Frequent (79-30%) HP:0010978
30 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
31 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
32 hypospadias 56 32 Occasional (29-5%) HP:0000047
33 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
34 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
35 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
36 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
37 genu varum 56 32 Occasional (29-5%) HP:0002970
38 renal duplication 56 32 Occasional (29-5%) HP:0000075
39 high forehead 56 32 Very frequent (99-80%) HP:0000348
40 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
41 craniosynostosis 56 32 Occasional (29-5%) HP:0001363
42 neoplasm of the nervous system 56 32 Occasional (29-5%) HP:0004375
43 advanced eruption of teeth 56 32 Frequent (79-30%) HP:0006288
44 aplasia/hypoplasia of the corpus callosum 56 32 Frequent (79-30%) HP:0007370
45 tall stature 56 32 Very frequent (99-80%) HP:0000098
46 accelerated skeletal maturation 56 32 Very frequent (99-80%) HP:0005616
47 congenital hip dislocation 56 32 Occasional (29-5%) HP:0001374
48 joint laxity 32 HP:0001388
49 nystagmus 32 HP:0000639
50 narrow palate 32 HP:0000189

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 mortality/aging MP:0010768 9.32 DPH1 GPC3 KMT2D NFIX NSD1 NSD3

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
1 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4
2 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4
3 A Study of RO4917838 in Combination With Antipsychotic Treatment in Patients With Schizophrenia. Completed NCT00616798 Phase 2
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:

66 (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 189)
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 GRCh38 Chromosome 5, 177204133: 177204133
17 NSD1 NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs587784071 GRCh38 Chromosome 5, 177209661: 177209661
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 GRCh38 Chromosome 5, 177210447: 177210447
23 NSD1 NM_022455.4(NSD1): c.2049_2053delGATAA (p.Ile684Valfs) deletion Pathogenic rs587784080 GRCh38 Chromosome 5, 177210448: 177210452
24 NSD1 NM_022455.4(NSD1): c.2064delG (p.Arg688Serfs) deletion Pathogenic rs587784081 GRCh37 Chromosome 5, 176637464: 176637464
25 NSD1 NM_022455.4(NSD1): c.2124_2127delTACA (p.His708Glnfs) deletion Pathogenic rs587784082 GRCh38 Chromosome 5, 177210523: 177210526
26 NSD1 NM_022455.4(NSD1): c.2276C> G (p.Ser759Ter) single nucleotide variant Pathogenic rs587784084 GRCh38 Chromosome 5, 177210675: 177210675
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 GRCh38 Chromosome 5, 177211353: 177211354
34 NSD1 NM_022455.4(NSD1): c.2956delG (p.Ala986Hisfs) deletion Pathogenic rs587784093 GRCh38 Chromosome 5, 177211355: 177211355
35 NSD1 NM_022455.4(NSD1): c.3046_3047delGT (p.Val1016Tyrfs) deletion Pathogenic rs587784094 GRCh38 Chromosome 5, 177211445: 177211446
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 GRCh38 Chromosome 5, 177211694: 177211694
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 GRCh38 Chromosome 5, 177212058: 177212059
45 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
46 NSD1 NM_022455.4(NSD1): c.3964C> T (p.Arg1322Ter) single nucleotide variant Pathogenic rs587784107 GRCh38 Chromosome 5, 177238279: 177238279
47 NSD1 NM_022455.4(NSD1): c.4057G> T (p.Glu1353Ter) single nucleotide variant Pathogenic rs587784109 GRCh38 Chromosome 5, 177238372: 177238372
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
11.41 KMT2D NSD1 NSD3 SETD2
2 10.7 KMT2D NSD1 NSD3 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 covalent chromatin modification GO:0016569 9.67 KMT2D NSD1 NSD3 SETD2
2 methylation GO:0032259 9.62 KMT2D NSD1 NSD3 SETD2
3 embryonic organ development GO:0048568 9.43 SETD2 ZFP36L1
4 histone methylation GO:0016571 9.4 NSD1 NSD3
5 glycosaminoglycan biosynthetic process GO:0006024 9.33 B4GALT7 GPC3 XYLT2
6 histone H3-K36 methylation GO:0010452 9.26 NSD1 SETD2
7 glycosaminoglycan metabolic process GO:0030203 9.13 B4GALT7 GPC3 XYLT2
8 histone lysine methylation GO:0034968 8.8 NSD1 NSD3 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 9.76 B4GALT7 DPH1 KMT2D NSD1 NSD3 RNF135
2 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.26 NSD1 SETD2
3 methyltransferase activity GO:0008168 9.26 KMT2D NSD1 NSD3 SETD2
4 histone-lysine N-methyltransferase activity GO:0018024 8.92 KMT2D NSD1 NSD3 SETD2

Sources for Sotos Syndrome 1

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