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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sotos Syndrome 1:

Name: Sotos Syndrome 1 52 24 70 27 12
Sotos Syndrome 11 23 48 25 49 54 70 50 39 13
Cerebral Gigantism 11 48 24 25 49 54 70
Sotos' Syndrome 25 27 68
 
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 48
Chromosome 5q35 Deletion Syndrome 70
Sotos Sequence 25
Sotos1 70

Characteristics:

Orphanet epidemiological data:

54
sotos syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
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:

OMIM52 117550
Disease Ontology11 DOID:14748
ICD1030 Q87.3
MeSH39 D058495
NCIt45 C75019
SNOMED-CT62 75968004
Orphanet54 ORPHA821
UMLS via Orphanet69 C0175695
ICD10 via Orphanet31 Q87.3
MESH via Orphanet40 D058495
MedGen37 C0175695

Summaries for Sotos Syndrome 1

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NINDS:49 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, seizures and joint laxity. An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways are PKMTs methylate histone lysines and Lysine degradation. Affiliated tissues include eye, bone and testes, and related mouse phenotype mortality/aging.

Disease Ontology:11 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:48 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:70 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:52 117550

GeneReviews for NBK1479

Related Diseases for Sotos Syndrome 1

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



Diseases related to sotos syndrome 1

Symptoms & Phenotypes for Sotos Syndrome 1

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Symptoms by clinical synopsis from OMIM:

117550

Clinical features from OMIM:

117550

Human phenotypes related to Sotos Syndrome 1:

 54 64 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 hypospadias64 54 Occasional (29-5%) HP:0000047
3 abnormality of the ureter54 Occasional (29-5%)
4 renal duplication64 54 Occasional (29-5%) HP:0000075
5 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
6 tall stature64 54 Very frequent (99-80%) HP:0000098
7 high palate64 54 Very frequent (99-80%) HP:0000218
8 macrocephaly64 54 Very frequent (99-80%) HP:0000256
9 dolichocephaly64 54 Frequent (79-30%) HP:0000268
10 coarse facial features64 54 Occasional (29-5%) HP:0000280
11 mandibular prognathia64 54 Very frequent (99-80%) HP:0000303
12 hypertelorism64 54 Very frequent (99-80%) HP:0000316
13 micrognathia64 54 Occasional (29-5%) HP:0000347
14 high forehead64 54 Very frequent (99-80%) HP:0000348
15 macrotia64 54 Very frequent (99-80%) HP:0000400
16 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
17 depressed nasal ridge64 54 Very frequent (99-80%) HP:0000457
18 anteverted nares64 54 Frequent (79-30%) HP:0000463
19 strabismus64 54 Occasional (29-5%) HP:0000486
20 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
21 behavioral abnormality64 54 Occasional (29-5%) HP:0000708
22 precocious puberty64 54 Frequent (79-30%) HP:0000826
23 abnormality of the fingernails64 54 Occasional (29-5%) HP:0001231
24 intellectual disability64 54 Very frequent (99-80%) HP:0001249
25 seizures64 54 Occasional (29-5%) HP:0001250
26 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
27 global developmental delay64 54 Very frequent (99-80%) HP:0001263
28 hyperreflexia64 54 Occasional (29-5%) HP:0001347
29 craniosynostosis64 54 Occasional (29-5%) HP:0001363
30 congenital hip dislocation64 54 Occasional (29-5%) HP:0001374
31 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
32 genu varum64 54 Occasional (29-5%) HP:0002970
33 neoplasm of the nervous system64 54 Occasional (29-5%) HP:0004375
34 accelerated skeletal maturation64 54 Very frequent (99-80%) HP:0005616
35 advanced eruption of teeth64 54 Frequent (79-30%) HP:0006288
36 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
37 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
38 abnormality of immune system physiology64 54 Frequent (79-30%) HP:0010978
39 obesity64 54 Frequent (79-30%) HP:0001513
40 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
41 abnormality of the cardiac septa64 54 Occasional (29-5%) HP:0001671
42 hypoglycemia64 54 Frequent (79-30%) HP:0001943
43 frontal bossing64 54 Very frequent (99-80%) HP:0002007
44 eeg abnormality64 54 Occasional (29-5%) HP:0002353
45 scoliosis64 54 Occasional (29-5%) HP:0002650
46 neoplasm54 Occasional (29-5%)
47 genu valgum64 54 Occasional (29-5%) HP:0002857
48 multiple renal cysts64 54 Occasional (29-5%) HP:0005562
49 prominent forehead64 54 Very frequent (99-80%) HP:0011220
50 narrow palate64 HP:0000189
51 pointed chin64 HP:0000307
52 otitis media64 HP:0000388
53 hypermetropia64 HP:0000540
54 nystagmus64 HP:0000639
55 large hands64 HP:0001176
56 neonatal hypotonia64 HP:0001319
57 partial agenesis of the corpus callosum64 HP:0001338
58 joint laxity64 HP:0001388
59 ventricular septal defect64 HP:0001629
60 atrial septal defect64 HP:0001631
61 pes planus64 HP:0001763
62 small nail64 HP:0001792
63 long foot64 HP:0001833
64 abnormal glucose tolerance64 HP:0001952
65 enlarged cisterna magna64 HP:0002280
66 poor coordination64 HP:0002370
67 cavum septum pellucidum64 HP:0002389
68 expressive language delay64 HP:0002474
69 nephroblastoma64 HP:0002667
70 high, narrow palate64 HP:0002705
71 high anterior hairline64 HP:0009890

UMLS symptoms related to Sotos Syndrome 1:


seizures, joint laxity

MGI Mouse Phenotypes related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.3DPH1, GPC3, KMT2D, NFIX, NSD1, NSD3

Drugs & Therapeutics for Sotos Syndrome 1

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

(show all 33)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lamivudineapproved, investigationalPhase 4621134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
2
LopinavirapprovedPhase 4344192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
 
Aluviran
C12871
C37H48N4O5
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
UNII-2494G1JF75
3
ZidovudineapprovedPhase 449530516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
4
Efavirenzapproved, investigationalPhase 4409154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
5
Ritonavirapproved, investigationalPhase 4883155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
6
Aspirinapproved, vet_approvedPhase 4115250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalicylsäure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide acetylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
Entericin
Enterophen
 
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
acide 2-(acétyloxy)benzoïque
acide acétylsalicylique
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
salicylic acid acetate
ácido acetilsalicílico
7
protease inhibitorsPhase 45471
Synonyms:
 
protease inhibitors
8Reverse Transcriptase InhibitorsPhase 41913
9Anti-HIV AgentsPhase 43162
10Cytochrome P-450 CYP2C9 InhibitorsPhase 4669
11Anti-Infective AgentsPhase 422062
12AntimetabolitesPhase 412054
13Nucleic Acid Synthesis InhibitorsPhase 44962
14Anti-Retroviral AgentsPhase 43296
15Cytochrome P-450 CYP3A InducersPhase 41119
16Cytochrome P-450 Enzyme InhibitorsPhase 43917
17Cytochrome P-450 CYP3A InhibitorsPhase 41715
18Antiviral AgentsPhase 49967
19HIV Protease InhibitorsPhase 45470
20Cyclooxygenase InhibitorsPhase 42870
21Fibrinolytic AgentsPhase 42388
22Platelet Aggregation InhibitorsPhase 42516
23Peripheral Nervous System AgentsPhase 423689
24AnalgesicsPhase 411733
25Antirheumatic AgentsPhase 410956
26Anti-Inflammatory AgentsPhase 410729
27Analgesics, Non-NarcoticPhase 46501
28Anti-Inflammatory Agents, Non-SteroidalPhase 44443
29AntipyreticsPhase 41605
30Tranquilizing AgentsPhase 24265
31Psychotropic DrugsPhase 26430
32Antipsychotic AgentsPhase 22401
33Central Nervous System DepressantsPhase 213403

Interventional clinical trials:

idNameStatusNCT IDPhase
1PI Vs. NNRTI Based Therapy for HIV Advanced DiseaseUnknown statusNCT00162643Phase 4
2Chronotherapy With Low-dose Aspirin for Primary PreventionRecruitingNCT00725127Phase 4
3A Study of RO4917838 in Combination With Antipsychotic Treatment in Patients With Schizophrenia.CompletedNCT00616798Phase 2
4Third International Study on Mechanical VentilationCompletedNCT01093482
5Effects of Pain Neuroscience Education in FibromyalgiaNot yet recruitingNCT03044067

Search NIH Clinical Center for Sotos Syndrome 1


Cochrane evidence based reviews: sotos syndrome

Genetic Tests for Sotos Syndrome 1

About this section

Genetic tests related to Sotos Syndrome 1:

id Genetic test Affiliating Genes
1 Sotos Syndrome 127 24 NSD1
2 Sotos' Syndrome27

Anatomical Context for Sotos Syndrome 1

About this section

MalaCards organs/tissues related to Sotos Syndrome 1:

36
Eye, Bone, Testes

Publications for Sotos Syndrome 1

About this section

Articles related to Sotos Syndrome 1:

idTitleAuthorsYear
1
Sotos syndrome 1 and 2. (25345081)
2014

Variations for Sotos Syndrome 1

About this section

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

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1NSD1p.His1616LeuVAR_015780
2NSD1p.Leu1637ProVAR_015781
3NSD1p.Cys1674TrpVAR_015782
4NSD1p.Ile1687AsnVAR_015783
5NSD1p.Gly1792ValVAR_015784
6NSD1p.Cys1925ArgVAR_015785
7NSD1p.Gly1955AspVAR_015786
8NSD1p.Arg1984GlnVAR_015787rs587784169
9NSD1p.Tyr1997CysVAR_015788rs797045825
10NSD1p.Arg2005GlnVAR_015789rs587784174
11NSD1p.Arg2017GlnVAR_015790rs587784177
12NSD1p.Arg2017TrpVAR_015791rs587784176
13NSD1p.His2143GlnVAR_015792rs121908068
14NSD1p.Cys2183SerVAR_015793rs121908069

Clinvar genetic disease variations for Sotos Syndrome 1:

5 (show all 189)
id Gene Variation Type Significance SNP ID Assembly Location
1NSD1NM_ 022455.4(NSD1): c.1077delG (p.Arg359Serfs)deletionPathogenicrs587784068GRCh38Chr 5, 177204133: 177204133
2NSD1NM_ 022455.4(NSD1): c.1262G> A (p.Trp421Ter)SNVPathogenicrs587784071GRCh38Chr 5, 177209661: 177209661
3NSD1NM_ 022455.4(NSD1): c.1456delT (p.Ser486Leufs)deletionPathogenicrs587784073GRCh37Chr 5, 176636856: 176636856
4NSD1NM_ 022455.4(NSD1): c.1810C> T (p.Arg604Ter)SNVPathogenicrs587784076GRCh37Chr 5, 176637210: 176637210
5NSD1NM_ 022455.4(NSD1): c.1831C> T (p.Arg611Ter)SNVPathogenicrs587784077GRCh37Chr 5, 176637231: 176637231
6NSD1NM_ 022455.4(NSD1): c.2014_ 2018delACAGA (p.Thr672Glufs)deletionPathogenicrs587784078GRCh37Chr 5, 176637414: 176637418
7NSD1NM_ 022455.4(NSD1): c.2048delA (p.Lys683Argfs)deletionPathogenicrs587784079GRCh38Chr 5, 177210447: 177210447
8NSD1NM_ 022455.4(NSD1): c.2049_ 2053delGATAA (p.Ile684Valfs)deletionPathogenicrs587784080GRCh38Chr 5, 177210448: 177210452
9NSD1NM_ 022455.4(NSD1): c.2064delG (p.Arg688Serfs)deletionPathogenicrs587784081GRCh37Chr 5, 176637464: 176637464
10NSD1NM_ 022455.4(NSD1): c.2124_ 2127delTACA (p.His708Glnfs)deletionPathogenicrs587784082GRCh38Chr 5, 177210523: 177210526
11NSD1NM_ 022455.4(NSD1): c.2276C> G (p.Ser759Ter)SNVPathogenicrs587784084GRCh38Chr 5, 177210675: 177210675
12NSD1NM_ 022455.4(NSD1): c.2295delC (p.Ser766Argfs)deletionPathogenicrs587784085GRCh37Chr 5, 176637695: 176637695
13NSD1NM_ 022455.4(NSD1): c.2339C> A (p.Ser780Ter)SNVPathogenicrs201327209GRCh37Chr 5, 176637739: 176637739
14NSD1NM_ 022455.4(NSD1): c.2386_ 2389delGAAA (p.Glu796Ilefs)deletionPathogenicrs587784086GRCh37Chr 5, 176637786: 176637789
15NSD1NM_ 022455.4(NSD1): c.2639delG (p.Gly880Glufs)deletionPathogenicrs587784087GRCh37Chr 5, 176638039: 176638039
16NSD1NM_ 022455.4(NSD1): c.2654C> A (p.Ser885Ter)SNVPathogenicrs587784088GRCh37Chr 5, 176638054: 176638054
17NSD1NM_ 022455.4(NSD1): c.2827delG (p.Asp943Thrfs)deletionPathogenicrs587784089GRCh37Chr 5, 176638227: 176638227
18NSD1NM_ 022455.4(NSD1): c.2954_ 2955delCT (p.Ser985Cysfs)deletionPathogenicrs587784092GRCh38Chr 5, 177211353: 177211354
19NSD1NM_ 022455.4(NSD1): c.2956delG (p.Ala986Hisfs)deletionPathogenicrs587784093GRCh38Chr 5, 177211355: 177211355
20NSD1NM_ 022455.4(NSD1): c.3046_ 3047delGT (p.Val1016Tyrfs)deletionPathogenicrs587784094GRCh38Chr 5, 177211445: 177211446
21NSD1NM_ 022455.4(NSD1): c.3067C> T (p.Arg1023Ter)SNVPathogenicrs587784095GRCh37Chr 5, 176638467: 176638467
22NSD1NM_ 022455.4(NSD1): c.3091C> T (p.Arg1031Ter)SNVPathogenicrs587784096GRCh37Chr 5, 176638491: 176638491
23NSD1NM_ 022455.4(NSD1): c.3185_ 3186delTG (p.Val1062Aspfs)deletionPathogenicrs587784097GRCh37Chr 5, 176638585: 176638586
24NSD1NM_ 022455.4(NSD1): c.3214C> T (p.Arg1072Ter)SNVPathogenicrs587784098GRCh37Chr 5, 176638614: 176638614
25NSD1NM_ 022455.4(NSD1): c.3293delC (p.Thr1098Lysfs)deletionPathogenicrs587784099GRCh37Chr 5, 176638693: 176638693
26NSD1NM_ 022455.4(NSD1): c.3295delA (p.Ser1099Valfs)deletionPathogenicrs587784100GRCh38Chr 5, 177211694: 177211694
27NSD1NM_ 022455.4(NSD1): c.3383_ 3384delCT (p.Ser1128Phefs)deletionPathogenicrs587784101GRCh37Chr 5, 176638783: 176638784
28NSD1NM_ 022455.4(NSD1): c.3578_ 3582delGTGAC (p.Ser1193Thrfs)deletionPathogenicrs587784103GRCh37Chr 5, 176638978: 176638982
29NSD1NM_ 022455.4(NSD1): c.3659_ 3660delAG (p.Glu1220Alafs)deletionPathogenicrs587784104GRCh38Chr 5, 177212058: 177212059
30NSD1NM_ 022455.4(NSD1): c.3839G> A (p.Trp1280Ter)SNVPathogenicrs587784105GRCh38Chr 5, 177235863: 177235863
31NSD1NM_ 022455.4(NSD1): c.3964C> T (p.Arg1322Ter)SNVPathogenicrs587784107GRCh38Chr 5, 177238279: 177238279
32NSD1NM_ 022455.4(NSD1): c.4057G> T (p.Glu1353Ter)SNVPathogenicrs587784109GRCh38Chr 5, 177238372: 177238372
33NSD1NM_ 022455.4(NSD1): c.4076C> G (p.Ser1359Ter)SNVPathogenicrs587784110GRCh37Chr 5, 176665392: 176665392
34NSD1NM_ 022455.4(NSD1): c.4192+2T> GSNVPathogenicrs587784111GRCh37Chr 5, 176665510: 176665510
35NSD1NM_ 022455.4(NSD1): c.4301delA (p.Lys1434Serfs)deletionPathogenicrs587784112GRCh37Chr 5, 176666865: 176666865
36NSD1NM_ 022455.4(NSD1): c.4376delG (p.Gly1459Glufs)deletionPathogenicrs587784114GRCh38Chr 5, 177244268: 177244268
37NSD1NM_ 022455.4(NSD1): c.4378+1G> ASNVPathogenicrs587784115GRCh37Chr 5, 176671272: 176671272
38NSD1NM_ 022455.4(NSD1): c.4411C> T (p.Arg1471Ter)SNVPathogenicrs570278338GRCh38Chr 5, 177246710: 177246710
39NSD1NM_ 022455.4(NSD1): c.4417C> T (p.Arg1473Ter)SNVPathogenicrs587784117GRCh38Chr 5, 177246716: 177246716
40NSD1NM_ 022455.4(NSD1): c.4444C> T (p.Gln1482Ter)SNVPathogenicrs587784118GRCh38Chr 5, 177246743: 177246743
41NSD1NM_ 022455.4(NSD1): c.4493C> G (p.Ser1498Ter)SNVPathogenicrs587784119GRCh38Chr 5, 177246792: 177246792
42NSD1NM_ 022455.4(NSD1): c.4498-3A> GSNVPathogenicrs587784120GRCh38Chr 5, 177248178: 177248178
43NSD1NM_ 022455.4(NSD1): c.4529delG (p.Ser1510Thrfs)deletionPathogenicrs587784121GRCh38Chr 5, 177248212: 177248212
44NSD1NM_ 022455.4(NSD1): c.4681C> T (p.Gln1561Ter)SNVPathogenicrs587784122GRCh37Chr 5, 176678770: 176678770
45NSD1NM_ 022455.4(NSD1): c.4705delG (p.Glu1569Serfs)deletionPathogenicrs587784123GRCh37Chr 5, 176678794: 176678794
46NSD1NM_ 022455.4(NSD1): c.4731_ 4732delAA (p.Gly1579Lysfs)deletionPathogenicrs587784124GRCh37Chr 5, 176678820: 176678821
47NSD1NM_ 022455.4(NSD1): c.4745delT (p.Ile1582Thrfs)deletionPathogenicrs587784125GRCh38Chr 5, 177251833: 177251833
48NSD1NM_ 022455.4(NSD1): c.4753G> T (p.Glu1585Ter)SNVPathogenicrs587784126GRCh37Chr 5, 176678842: 176678842
49NSD1NM_ 022455.4(NSD1): c.4817G> A (p.Cys1606Tyr)SNVLikely pathogenicrs587784127GRCh38Chr 5, 177257002: 177257002
50NSD1NM_ 022455.4(NSD1): c.4844A> C (p.Tyr1615Ser)SNVLikely pathogenicrs398124378GRCh37Chr 5, 176684030: 176684030
51NSD1NM_ 022455.4(NSD1): c.4855T> A (p.Cys1619Ser)SNVPathogenicrs587784128GRCh38Chr 5, 177257040: 177257040
52NSD1NM_ 022455.4(NSD1): c.4855T> G (p.Cys1619Gly)SNVPathogenicrs587784128GRCh38Chr 5, 177257040: 177257040
53NSD1NM_ 022455.4(NSD1): c.4907C> T (p.Ser1636Phe)SNVPathogenicrs587784129GRCh38Chr 5, 177257092: 177257092
54NSD1NM_ 022455.4(NSD1): c.4966+1G> ASNVPathogenicrs587784131GRCh38Chr 5, 177257152: 177257152
55NSD1NM_ 022455.4(NSD1): c.4966G> T (p.Gly1656Cys)SNVPathogenicrs587784132GRCh37Chr 5, 176684152: 176684152
56NSD1NM_ 022455.4(NSD1): c.4967-2A> TSNVPathogenicrs587784133GRCh38Chr 5, 177259987: 177259987
57NSD1NM_ 022455.4(NSD1): c.4987C> T (p.Arg1663Cys)SNVPathogenicrs587784134GRCh37Chr 5, 176687010: 176687010
58NSD1NM_ 022455.4(NSD1): c.5021G> A (p.Cys1674Tyr)SNVLikely pathogenicrs587784135GRCh37Chr 5, 176687044: 176687044
59NSD1NM_ 022455.4(NSD1): c.5098C> T (p.Arg1700Ter)SNVPathogenicrs587784137GRCh37Chr 5, 176687121: 176687121
60NSD1NM_ 022455.4(NSD1): c.5141C> G (p.Ser1714Ter)SNVPathogenicrs587784138GRCh38Chr 5, 177260163: 177260163
61NSD1NM_ 022455.4(NSD1): c.5146+1G> ASNVPathogenicrs587784139GRCh37Chr 5, 176687170: 176687170
62NSD1NM_ 022455.4(NSD1): c.5198G> A (p.Cys1733Tyr)SNVLikely pathogenicrs587784140GRCh38Chr 5, 177267613: 177267613
63NSD1NM_ 022455.4(NSD1): c.5303+1G> CSNVPathogenicrs587784141GRCh37Chr 5, 176694720: 176694720
64NSD1NM_ 022455.4(NSD1): c.5309G> A (p.Trp1770Ter)SNVPathogenicrs587784142GRCh38Chr 5, 177269607: 177269607
65NSD1NM_ 022455.4(NSD1): c.5375G> A (p.Gly1792Glu)SNVPathogenicrs587784143GRCh38Chr 5, 177269673: 177269673
66NSD1NM_ 022455.4(NSD1): c.5390T> C (p.Leu1797Pro)SNVLikely pathogenicrs587784144GRCh38Chr 5, 177269688: 177269688
67NSD1NM_ 022455.4(NSD1): c.5392_ 5398delTTTTTTG (p.Phe1798Aspfs)deletionPathogenicrs587784145GRCh37Chr 5, 176696691: 176696697
68NSD1NM_ 022455.4(NSD1): c.5419A> C (p.Thr1807Pro)SNVLikely pathogenicrs587784146GRCh37Chr 5, 176696718: 176696718
69NSD1NM_ 022455.4(NSD1): c.5425C> T (p.Gln1809Ter)SNVPathogenicrs587784147GRCh38Chr 5, 177269723: 177269723
70NSD1NM_ 022455.4(NSD1): c.5431C> T (p.Arg1811Ter)SNVPathogenicrs587784148GRCh37Chr 5, 176696730: 176696730
71NSD1NM_ 022455.4(NSD1): c.5432G> A (p.Arg1811Gln)SNVPathogenicrs587784149GRCh38Chr 5, 177269730: 177269730
72NSD1NM_ 022455.4(NSD1): c.5471A> G (p.Asp1824Gly)SNVLikely pathogenicrs587784150GRCh37Chr 5, 176696770: 176696770
73NSD1NM_ 022455.4(NSD1): c.5566C> T (p.Gln1856Ter)SNVPathogenicrs587784151GRCh37Chr 5, 176700729: 176700729
74NSD1NM_ 022455.4(NSD1): c.5618_ 5619delTA (p.Ile1873Lysfs)deletionPathogenicrs587784152GRCh37Chr 5, 176700781: 176700782
75NSD1NM_ 022455.4(NSD1): c.5712delC (p.Cys1905Valfs)deletionPathogenicrs587784153GRCh37Chr 5, 176707655: 176707655
76NSD1NM_ 022455.4(NSD1): c.5740C> T (p.Arg1914Cys)SNVPathogenicrs587784154GRCh37Chr 5, 176707683: 176707683
77NSD1NM_ 022455.4(NSD1): c.5741G> C (p.Arg1914Pro)SNVLikely pathogenicrs587784155GRCh37Chr 5, 176707684: 176707684
78NSD1NM_ 022455.4(NSD1): c.5798A> G (p.Asn1933Ser)SNVLikely pathogenicrs587784156GRCh38Chr 5, 177280740: 177280740
79NSD1NM_ 022455.4(NSD1): c.5800C> T (p.Gln1934Ter)SNVPathogenicrs587784157GRCh37Chr 5, 176707743: 176707743
80NSD1NM_ 022455.4(NSD1): c.5805C> A (p.Cys1935Ter)SNVPathogenicrs587784158GRCh38Chr 5, 177280747: 177280747
81NSD1NM_ 022455.4(NSD1): c.5862G> C (p.Trp1954Cys)SNVPathogenicrs587784160GRCh37Chr 5, 176707805: 176707805
82NSD1NM_ 022455.4(NSD1): c.5885T> C (p.Ile1962Thr)SNVPathogenicrs587784162GRCh37Chr 5, 176707828: 176707828
83NSD1NM_ 022455.4(NSD1): c.5893-2A> GSNVPathogenicrs587784163GRCh37Chr 5, 176709464: 176709464
84NSD1NM_ 022455.4(NSD1): c.5903delT (p.Val1968Glyfs)deletionPathogenicrs587784164GRCh37Chr 5, 176709476: 176709476
85NSD1NM_ 022455.4(NSD1): c.5911delT (p.Tyr1971Metfs)deletionPathogenicrs587784165GRCh38Chr 5, 177282483: 177282483
86NSD1NM_ 022455.4(NSD1): c.5918G> T (p.Gly1973Val)SNVLikely pathogenicrs587784166GRCh37Chr 5, 176709491: 176709491
87NSD1NM_ 022455.4(NSD1): c.5927T> A (p.Ile1976Lys)SNVLikely pathogenicrs587784167GRCh37Chr 5, 176709500: 176709500
88NSD1NM_ 022455.4(NSD1): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs587784168GRCh37Chr 5, 176709511: 176709511
89NSD1NM_ 022455.4(NSD1): c.5951G> A (p.Arg1984Gln)SNVPathogenicrs587784169GRCh37Chr 5, 176709524: 176709524
90NSD1NM_ 022455.4(NSD1): c.5965C> T (p.Gln1989Ter)SNVPathogenicrs587784170GRCh37Chr 5, 176709538: 176709538
91NSD1NM_ 022455.4(NSD1): c.5989T> C (p.Tyr1997His)SNVPathogenicrs587784171GRCh37Chr 5, 176709562: 176709562
92NSD1NM_ 022455.4(NSD1): c.6013C> T (p.Arg2005Ter)SNVPathogenicrs587784173GRCh37Chr 5, 176710791: 176710791
93NSD1NM_ 022455.4(NSD1): c.6014G> A (p.Arg2005Gln)SNVPathogenicrs587784174GRCh37Chr 5, 176710792: 176710792
94NSD1NM_ 022455.4(NSD1): c.6043T> C (p.Tyr2015His)SNVLikely pathogenicrs587784175GRCh37Chr 5, 176710821: 176710821
95NSD1NM_ 022455.4(NSD1): c.6049C> T (p.Arg2017Trp)SNVPathogenicrs587784176GRCh37Chr 5, 176710827: 176710827
96NSD1NM_ 022455.4(NSD1): c.6050G> A (p.Arg2017Gln)SNVPathogenic/ Likely pathogenicrs587784177GRCh37Chr 5, 176710828: 176710828
97NSD1NM_ 022455.4(NSD1): c.6059A> G (p.Asn2020Ser)SNVPathogenicrs587784178GRCh37Chr 5, 176710837: 176710837
98NSD1NM_ 022455.4(NSD1): c.6070C> T (p.Gln2024Ter)SNVPathogenicrs587784179GRCh37Chr 5, 176710848: 176710848
99NSD1NM_ 022455.4(NSD1): c.6080G> C (p.Cys2027Ser)SNVLikely pathogenicrs587784180GRCh37Chr 5, 176710858: 176710858
100NSD1NM_ 022455.4(NSD1): c.6086C> T (p.Thr2029Ile)SNVLikely pathogenicrs587784181GRCh37Chr 5, 176710864: 176710864
101NSD1NM_ 022455.4(NSD1): c.6157G> T (p.Glu2053Ter)SNVPathogenicrs587784183GRCh37Chr 5, 176715825: 176715825
102NSD1NM_ 022455.4(NSD1): c.6165delC (p.Phe2056Serfs)deletionPathogenicrs587784184GRCh37Chr 5, 176715833: 176715833
103NSD1NM_ 022455.4(NSD1): c.6258+1G> ASNVPathogenicrs587784185GRCh37Chr 5, 176715927: 176715927
104NSD1NM_ 022455.4(NSD1): c.6291delG (p.Lys2098Asnfs)deletionPathogenicrs587784186GRCh37Chr 5, 176718987: 176718987
105NSD1NM_ 022455.4(NSD1): c.6307C> T (p.Gln2103Ter)SNVPathogenicrs587784187GRCh37Chr 5, 176719003: 176719003
106NSD1NM_ 022455.4(NSD1): c.6310C> T (p.Gln2104Ter)SNVPathogenicrs587784188GRCh37Chr 5, 176719006: 176719006
107NSD1NM_ 022455.4(NSD1): c.6311_ 6312delAG (p.Gln2104Argfs)deletionPathogenicrs587784189GRCh37Chr 5, 176719007: 176719008
108NSD1NM_ 022455.4(NSD1): c.6349C> T (p.Arg2117Ter)SNVPathogenicrs587784190GRCh37Chr 5, 176719045: 176719045
109NSD1NM_ 022455.4(NSD1): c.6356A> G (p.Asp2119Gly)SNVPathogenicrs587784191GRCh37Chr 5, 176719052: 176719052
110NSD1NM_ 022455.4(NSD1): c.6366delT (p.Phe2122Leufs)deletionPathogenicrs587784192GRCh37Chr 5, 176719062: 176719062
111NSD1NM_ 022455.4(NSD1): c.6377A> T (p.Asp2126Val)SNVPathogenicrs587784193GRCh37Chr 5, 176719073: 176719073
112NSD1NM_ 022455.4(NSD1): c.6413G> A (p.Cys2138Tyr)SNVLikely pathogenicrs587784195GRCh37Chr 5, 176719109: 176719109
113NSD1NM_ 022455.4(NSD1): c.6418A> G (p.Lys2140Glu)SNVLikely pathogenicrs587784196GRCh37Chr 5, 176719114: 176719114
114NSD1NM_ 022455.4(NSD1): c.6421delG (p.Val2141Phefs)deletionPathogenicrs587784197GRCh37Chr 5, 176719117: 176719117
115NSD1NM_ 022455.4(NSD1): c.6431delC (p.Ala2144Glufs)deletionPathogenicrs587784198GRCh37Chr 5, 176719127: 176719127
116NSD1NM_ 022455.4(NSD1): c.6454C> T (p.Arg2152Ter)SNVPathogenicrs587784199GRCh37Chr 5, 176719150: 176719150
117NSD1NM_ 022455.4(NSD1): c.6455G> A (p.Arg2152Gln)SNVPathogenicrs587784200GRCh37Chr 5, 176719151: 176719151
118NSD1NM_ 022455.4(NSD1): c.6472G> T (p.Glu2158Ter)SNVPathogenicrs587784201GRCh37Chr 5, 176720841: 176720841
119NSD1NM_ 022455.4(NSD1): c.6476G> A (p.Cys2159Tyr)SNVPathogenicrs587784202GRCh37Chr 5, 176720845: 176720845
120NSD1NM_ 022455.4(NSD1): c.6485A> C (p.His2162Pro)SNVLikely pathogenicrs587784204GRCh37Chr 5, 176720854: 176720854
121NSD1NM_ 022455.4(NSD1): c.6500G> A (p.Cys2167Tyr)SNVLikely pathogenicrs587784205GRCh37Chr 5, 176720869: 176720869
122NSD1NM_ 022455.4(NSD1): c.6521_ 6523delTCT (p.Phe2174del)deletionPathogenic/ Likely pathogenicrs587784206GRCh37Chr 5, 176720890: 176720892
123NSD1NM_ 022455.4(NSD1): c.6539_ 6557del19 (p.Ser2180Ilefs)deletionPathogenicrs587784207GRCh37Chr 5, 176720908: 176720926
124NSD1NM_ 022455.4(NSD1): c.6557A> G (p.His2186Arg)SNVLikely pathogenicrs587784208GRCh37Chr 5, 176720926: 176720926
125NSD1NM_ 022455.4(NSD1): c.6559C> T (p.Arg2187Ter)SNVPathogenicrs587784209GRCh37Chr 5, 176720928: 176720928
126NSD1NM_ 022455.4(NSD1): c.6604T> A (p.Cys2202Ser)SNVPathogenicrs587784210GRCh37Chr 5, 176720973: 176720973
127NSD1NM_ 022455.4(NSD1): c.6630_ 6644delCAATCCTCTGGAACC (p.Asn2211_ Pro2215del)deletionLikely pathogenicrs587784211GRCh37Chr 5, 176720999: 176721013
128NSD1NM_ 022455.4(NSD1): c.6656G> A (p.Arg2219His)SNVPathogenicrs587784214GRCh37Chr 5, 176721025: 176721025
129NSD1NM_ 022455.4(NSD1): c.7939_ 7940delCA (p.Gln2647Valfs)deletionPathogenicrs587784219GRCh37Chr 5, 176722308: 176722309
130NSD1NM_ 022455.4(NSD1): c.8036delC (p.Pro2679Glnfs)deletionPathogenicrs587784220GRCh37Chr 5, 176722405: 176722405
131NSD1NM_ 022455.4(NSD1): c.8043delT (p.Asn2682Thrfs)deletionPathogenicrs587784221GRCh37Chr 5, 176722412: 176722412
132NSD1NM_ 022455.4(NSD1): c.5332C> T (p.Arg1778Ter)SNVPathogenicrs794727176GRCh37Chr 5, 176696631: 176696631
133NSD1NM_ 022455.4(NSD1): c.4217_ 4220delGAAA (p.Arg1406Asnfs)deletionPathogenicrs794727930GRCh37Chr 5, 176666781: 176666784
134NSD1NM_ 022455.4(NSD1): c.1742delA (p.Glu581Aspfs)deletionPathogenicrs794729232GRCh38Chr 5, 177210141: 177210141
135NSD1NM_ 022455.4(NSD1): c.5950C> T (p.Arg1984Ter)SNVPathogenicrs797045057GRCh37Chr 5, 176709523: 176709523
136NSD1NM_ 022455.4(NSD1): c.7966C> T (p.Gln2656Ter)SNVPathogenicrs797045058GRCh37Chr 5, 176722335: 176722335
137NSD1NM_ 022455.4(NSD1): c.(?_ -138)_ (7458_ ?)deldeletionPathogenic
138NSD1NM_ 022455.4(NSD1): c.1264dupG (p.Glu422Glyfs)duplicationPathogenicrs797045804GRCh38Chr 5, 177209663: 177209663
139NSD1NM_ 022455.4(NSD1): c.1802dupA (p.Cys602Valfs)duplicationPathogenicrs797045805GRCh38Chr 5, 177210201: 177210201
140NSD1NM_ 022455.4(NSD1): c.2167dupA (p.Thr723Asnfs)duplicationPathogenicrs797045807GRCh38Chr 5, 177210566: 177210566
141NSD1NM_ 022455.4(NSD1): c.2190_ 2191delCTinsG (p.Ser731Leufs)indelPathogenicrs797045808GRCh38Chr 5, 177210589: 177210590
142NSD1NM_ 022455.4(NSD1): c.2859dupT (p.Lys954Terfs)duplicationPathogenicrs797045809GRCh38Chr 5, 177211258: 177211258
143NSD1NM_ 022455.4(NSD1): c.3146dupA (p.Thr1050Aspfs)duplicationPathogenicrs797045810GRCh38Chr 5, 177211545: 177211545
144NSD1NM_ 022455.4(NSD1): c.3259_ 3265delAAAGAGG (p.Lys1087Ilefs)deletionPathogenicrs797045811GRCh37Chr 5, 176638659: 176638665
145NSD1NM_ 022455.4(NSD1): c.3316dupT (p.Ser1106Phefs)duplicationPathogenicrs797045812GRCh38Chr 5, 177211715: 177211715
146NSD1NM_ 022455.4(NSD1): c.3549dupT (p.Glu1184Terfs)duplicationPathogenicrs797045813GRCh38Chr 5, 177211948: 177211948
147NSD1NM_ 022455.4(NSD1): c.3578dupG (p.Ser1193Argfs)duplicationPathogenicrs797045814GRCh38Chr 5, 177211977: 177211977
148NSD1NM_ 022455.4(NSD1): c.3939dupA (p.Glu1314Argfs)duplicationPathogenicrs797045815GRCh38Chr 5, 177238254: 177238254
149NSD1NM_ 022455.4(NSD1): c.4020delA (p.Glu1341Serfs)deletionPathogenicrs797045816GRCh38Chr 5, 177238335: 177238335
150NSD1NM_ 022455.4(NSD1): c.4282dupG (p.Asp1428Glyfs)duplicationPathogenicrs797045817GRCh38Chr 5, 177239845: 177239845
151NSD1NM_ 022455.4(NSD1): c.4301dupA (p.Cys1435Valfs)duplicationPathogenicrs797045818GRCh37Chr 5, 176666865: 176666865
152NSD1NM_ 022455.4(NSD1): c.4479_ 4488dupAGAGATTCCA (p.Gly1497Argfs)duplicationPathogenicrs797045819GRCh38Chr 5, 177246778: 177246787
153NSD1NM_ 022455.4(NSD1): c.4732dupA (p.Arg1578Lysfs)duplicationPathogenicrs797045820GRCh38Chr 5, 177251820: 177251820
154NSD1NM_ 022455.4(NSD1): c.4882_ 4883insAA (p.Met1628Lysfs)insertionPathogenicrs797045821GRCh38Chr 5, 177257067: 177257068
155NSD1NM_ 022455.4(NSD1): c.5408_ 5411delACTAins9indelPathogenicrs797045822GRCh38Chr 5, 177269706: 177269709
156NSD1NM_ 022455.4(NSD1): c.5407_ 5410dupGACT (p.Tyr1804Terfs)duplicationPathogenicrs797045823GRCh37Chr 5, 176696706: 176696709
157NSD1NM_ 022455.4(NSD1): c.5790dupC (p.Cys1931Leufs)duplicationPathogenicrs797045824GRCh37Chr 5, 176707733: 176707733
158NSD1NM_ 022455.4(NSD1): c.5990A> G (p.Tyr1997Cys)SNVPathogenicrs797045825GRCh38Chr 5, 177282562: 177282562
159NSD1NM_ 022455.4(NSD1): c.6094_ 6095dupTG (p.Trp2032Cysfs)duplicationPathogenicrs797045826GRCh38Chr 5, 177283871: 177283872
160NSD1NM_ 022455.4(NSD1): c.6112dupA (p.Thr2038Asnfs)duplicationPathogenicrs797045827GRCh38Chr 5, 177283889: 177283889
161NSD1NM_ 022455.4(NSD1): c.6218dupG (p.Ala2074Serfs)duplicationPathogenicrs797045828GRCh37Chr 5, 176715886: 176715886
162NSD1NM_ 022455.4(NSD1): c.6290dupA (p.Lys2098Glufs)duplicationPathogenicrs797045829GRCh38Chr 5, 177291985: 177291985
163NSD1NM_ 022455.4(NSD1): c.6307_ 6308insTGTGC (p.Gln2103Leufs)insertionPathogenicrs797045830GRCh38Chr 5, 177292002: 177292003
164NSD1NM_ 022455.4(NSD1): c.6344dupA (p.Glu2116Glyfs)duplicationPathogenicrs797045831GRCh37Chr 5, 176719040: 176719040
165NSD1NM_ 022455.4(NSD1): c.6459_ 6463+5deldeletionPathogenicrs797045832GRCh38Chr 5, 177292154: 177292163
166NSD1NM_ 022455.4(NSD1): c.6541_ 6543dupTCC (p.Ser2181_ Phe2182insSer)duplicationLikely pathogenicrs797045833GRCh37Chr 5, 176720910: 176720912
167NSD1NM_ 022455.4(NSD1): c.7783A> T (p.Lys2595Ter)SNVPathogenicrs797045834GRCh38Chr 5, 177295151: 177295151
168NSD1NM_ 022455.4(NSD1): c.2350C> T (p.Gln784Ter)SNVLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
169NSD1NM_ 022455.4(NSD1): c.5304-1G> CSNVLikely pathogenicrs863224905GRCh38Chr 5, 177269601: 177269601
170NSD1NM_ 022455.4(NSD1): c.6534dupC (p.Ser2180Glnfs)duplicationPathogenicrs879253860GRCh38Chr 5, 177293902: 177293902
171NSD1NM_ 022455.4(NSD1): c.6440dupT (p.Asn2148Glnfs)duplicationPathogenicrs886042725GRCh37Chr 5, 176719136: 176719136
172NSD1NM_ 022455.4(NSD1): c.3382dupT (p.Ser1128Phefs)duplicationPathogenicrs886043780GRCh37Chr 5, 176638782: 176638782
173NSD1NM_ 022455.4(NSD1): c.6152-1G> ASNVPathogenicrs886044326GRCh37Chr 5, 176715819: 176715819
174NSD1NM_ 022455.4(NSD1): c.6019A> T (p.Ile2007Phe)SNVLikely pathogenicrs1057516048GRCh38Chr 5, 177283796: 177283796
175NSD1NSD1, 1.9-MB DELdeletionPathogenic
176NSD1NM_ 022455.4(NSD1): c.1310C> G (p.Ser437Ter)SNVPathogenicrs121908067GRCh37Chr 5, 176636710: 176636710
177NSD1NSD1, 1-BP DEL, 3536AdeletionPathogenic
178NSD1NSD1, 1-BP INS, 5998TinsertionPathogenic
179NSD1NSD1, IVS20DS, G-A, +1SNVPathogenic
180NSD1NM_ 022455.4(NSD1): c.6429C> G (p.His2143Gln)SNVPathogenicrs121908068GRCh37Chr 5, 176719125: 176719125
181NSD1NM_ 022455.4(NSD1): c.6548G> C (p.Cys2183Ser)SNVPathogenicrs121908069GRCh37Chr 5, 176720917: 176720917
182NSD1NM_ 022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs)duplicationPathogenicrs864309639GRCh37Chr 5, 176719146: 176719146
183NSD1NSD1, 1-BP DEL, 896CdeletionPathogenic
184NSD1NM_ 022455.4(NSD1): c.3958C> T (p.Arg1320Ter)SNVPathogenicrs121908070GRCh37Chr 5, 176665274: 176665274
185NSD1NM_ 022455.4(NSD1): c.6605G> A (p.Cys2202Tyr)SNVPathogenicrs121908071GRCh37Chr 5, 176720974: 176720974
186NSD1NM_ 022455.4(NSD1): c.2349delA (p.Lys783Asnfs)deletionPathogenicrs398124374GRCh37Chr 5, 176637749: 176637749
187NSD1NM_ 022455.4(NSD1): c.5279_ 5282delTCTG (p.Val1760Glyfs)deletionPathogenicrs398124379GRCh37Chr 5, 176694695: 176694698
188NSD1NM_ 022455.4(NSD1): c.6463+1G> ASNVPathogenicrs398124381GRCh37Chr 5, 176719160: 176719160
189NSD1NM_ 022455.4(NSD1): c.6538_ 6539insC (p.Ser2180Thrfs)insertionPathogenicrs398124383GRCh37Chr 5, 176720907: 176720908

Copy number variations for Sotos Syndrome 1 from CNVD:

6 (show all 39)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
113368719690000012600000DeletionANGPTL6Sotos syndrome
213368819690000012600000DeletionC19orf38Sotos syndrome
313368919690000012600000DeletionC3P1Sotos syndrome
413369019690000012600000DeletionCARM1Sotos syndrome
513369119690000012600000DeletionCOL5A3Sotos syndrome
613369219690000012600000DeletionDNM2Sotos syndrome
713369319690000012600000DeletionDNMT1Sotos syndrome
813369419690000012600000DeletionEIF3GSotos syndrome
913369519690000012600000DeletionILF3Sotos syndrome
1013369619690000012600000DeletionOLFM2Sotos syndrome
1113369719690000012600000DeletionOR7D2Sotos syndrome
1213369819690000012600000DeletionP2RY11Sotos syndrome
1313369919690000012600000DeletionPPANSotos syndrome
1413370019690000012600000DeletionQTRT1Sotos syndrome
1513370119690000012600000DeletionRDH8Sotos syndrome
1613370219690000012600000DeletionS1PR2Sotos syndrome
1713370319690000012600000DeletionSMARCA4Sotos syndrome
1813370419690000012600000DeletionTMED1Sotos syndrome
1913370519690000012600000DeletionYIPF2Sotos syndrome
2013370619690000012600000DeletionZNF177Sotos syndrome
2113370719690000012600000DeletionZNF317Sotos syndrome
2213370819690000012600000DeletionZNF559Sotos syndrome
2313370919690000012600000DeletionZNF561Sotos syndrome
2413371019690000012600000DeletionZNF699Sotos syndrome
2513371119690000012600000DeletionZNF846Sotos syndrome
2613371319690000012600000DuplicationFDX1LSotos syndrome
2713371463912453439163498DuplicationGLP1RSotos syndrome
2813371519690000012600000DuplicationICAM3Sotos syndrome
2913371619690000012600000DuplicationICAM5Sotos syndrome
3013371719690000012600000DuplicationRAVER1Sotos syndrome
3113371819690000012600000DuplicationTYK2Sotos syndrome
3213371919690000012600000DuplicationZGLP1Sotos syndrome
331964505167400000180857866Copy numberNSD1Sotos syndrome
341964525167400000180857866DeletionNSD1Sotos syndrome
351964535167400000180857866DeletionNSD1Sotos syndrome
361964555167400000180857866MicrodeletionSotos syndrome
371973035176492685176659820Copy numberNSD1Sotos syndrome
381973145176500000180857866Copy numberNSD1Sotos syndrome
391973165176500000180857866DeletionSotos syndrome

Expression for genes affiliated with Sotos Syndrome 1

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Search GEO for disease gene expression data for Sotos Syndrome 1.

Pathways for genes affiliated with Sotos Syndrome 1

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Pathways related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9KMT2D, NSD1, NSD3, SETD2
28.9KMT2D, NSD1, NSD3, SETD2

GO Terms for genes affiliated with Sotos Syndrome 1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1histone H3-K36 methylationGO:001045210.6NSD1, SETD2
2embryonic organ developmentGO:004856810.4SETD2, ZFP36L1
3histone methylationGO:001657110.3NSD1, NSD3
4histone lysine methylationGO:003496810.1NSD1, NSD3, SETD2
5glycosaminoglycan biosynthetic processGO:000602410.0B4GALT7, GPC3, XYLT2
6glycosaminoglycan metabolic processGO:003020310.0B4GALT7, GPC3, XYLT2
7covalent chromatin modificationGO:00165699.5KMT2D, NSD1, NSD3, SETD2
8methylationGO:00322598.9KMT2D, NSD1, NSD3, SETD2

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

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase activity (H3-K36 specific)GO:004697510.8NSD1, SETD2
2histone-lysine N-methyltransferase activityGO:00180249.6KMT2D, NSD1, NSD3, SETD2
3methyltransferase activityGO:00081689.6KMT2D, NSD1, NSD3, SETD2
4transferase activityGO:00167407.3B4GALT7, DPH1, KMT2D, NSD1, NSD3, RNF135

Sources for Sotos Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet