MCID: STS008
MIFTS: 49

Sotos Syndrome 1 malady

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

Aliases & Classifications for Sotos Syndrome 1

About this section
Sources:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sotos Syndrome 1:

Name: Sotos Syndrome 1 50 23 68 25 12
Sotos Syndrome 11 22 46 24 47 13 52 68 48 37
Cerebral Gigantism 11 46 23 24 47 52 68
Sotos' Syndrome 24 25 66
 
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 46
Chromosome 5q35 Deletion Syndrome 68
Sotos Sequence 24
Sotos1 68

Characteristics:

Orphanet epidemiological data:

52
sotos syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
sotos syndrome 1:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

OMIM50 117550
Disease Ontology11 DOID:14748
ICD1028 Q87.3
MeSH37 D058495
NCIt43 C75019
SNOMED-CT60 75968004
Orphanet52 ORPHA821
UMLS via Orphanet67 C0175695
ICD10 via Orphanet29 Q87.3
MESH via Orphanet38 D058495
MedGen35 C0175695

Summaries for Sotos Syndrome 1

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NIH Rare Diseases:46 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

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 tall stature, macrocephaly and mandibular prognathia. An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways is Lysine degradation. Affiliated tissues include eye, bone and kidney, 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:24 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.

NINDS:47 Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 117550

GeneReviews summary 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 for Sotos Syndrome 1

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Symptoms by clinical synopsis from OMIM:

117550

Clinical features from OMIM:

117550

Symptoms:

 52 (show all 49)
  • cryptorchidism
  • hypospadias
  • abnormality of the ureter
  • renal duplication
  • vesicoureteral reflux
  • tall stature
  • high palate
  • macrocephaly
  • dolichocephaly
  • coarse facial features
  • mandibular prognathia
  • hypertelorism
  • micrognathia
  • high forehead
  • macrotia
  • conductive hearing impairment
  • depressed nasal ridge
  • anteverted nares
  • strabismus
  • downslanted palpebral fissures
  • behavioral abnormality
  • precocious puberty
  • abnormality of the fingernails
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • hyperreflexia
  • craniosynostosis
  • congenital hip dislocation
  • ventriculomegaly
  • genu varum
  • neoplasm of the nervous system
  • accelerated skeletal maturation
  • advanced eruption of teeth
  • aplasia/hypoplasia of the corpus callosum
  • feeding difficulties in infancy
  • abnormality of immune system physiology
  • obesity
  • patent ductus arteriosus
  • abnormality of the cardiac septa
  • hypoglycemia
  • frontal bossing
  • eeg abnormality
  • scoliosis
  • neoplasm
  • genu valgum
  • multiple renal cysts
  • prominent forehead

HPO human phenotypes related to Sotos Syndrome 1:

(show all 79)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 macrocephaly hallmark (90%) HP:0000256
3 mandibular prognathia hallmark (90%) HP:0000303
4 hypertelorism hallmark (90%) HP:0000316
5 high forehead hallmark (90%) HP:0000348
6 macrotia hallmark (90%) HP:0000400
7 depressed nasal ridge hallmark (90%) HP:0000457
8 downslanted palpebral fissures hallmark (90%) HP:0000494
9 frontal bossing hallmark (90%) HP:0002007
10 accelerated skeletal maturation hallmark (90%) HP:0005616
11 cognitive impairment hallmark (90%) HP:0100543
12 dolichocephaly typical (50%) HP:0000268
13 conductive hearing impairment typical (50%) HP:0000405
14 anteverted nares typical (50%) HP:0000463
15 precocious puberty typical (50%) HP:0000826
16 obesity typical (50%) HP:0001513
17 hypoglycemia typical (50%) HP:0001943
18 advanced eruption of teeth typical (50%) HP:0006288
19 cryptorchidism occasional (7.5%) HP:0000028
20 abnormality of the ureter occasional (7.5%) HP:0000069
21 polycystic kidney dysplasia occasional (7.5%) HP:0000113
22 coarse facial features occasional (7.5%) HP:0000280
23 micrognathia occasional (7.5%) HP:0000347
24 strabismus occasional (7.5%) HP:0000486
25 behavioral abnormality occasional (7.5%) HP:0000708
26 abnormality of the fingernails occasional (7.5%) HP:0001231
27 seizures occasional (7.5%) HP:0001250
28 hyperreflexia occasional (7.5%) HP:0001347
29 craniosynostosis occasional (7.5%) HP:0001363
30 patent ductus arteriosus occasional (7.5%) HP:0001643
31 eeg abnormality occasional (7.5%) HP:0002353
32 scoliosis occasional (7.5%) HP:0002650
33 genu valgum occasional (7.5%) HP:0002857
34 genu varum occasional (7.5%) HP:0002970
35 abnormality of the hip bone occasional (7.5%) HP:0003272
36 neoplasm of the nervous system occasional (7.5%) HP:0004375
37 presacral teratoma occasional (7.5%) HP:0009793
38 displacement of the external urethral meatus occasional (7.5%) HP:0100627
39 tall stature HP:0000098
40 macrocephaly HP:0000256
41 mandibular prognathia HP:0000303
42 intellectual disability HP:0001249
43 accelerated skeletal maturation HP:0005616
44 narrow palate HP:0000189
45 high palate HP:0000218
46 dolichocephaly HP:0000268
47 pointed chin HP:0000307
48 hypertelorism HP:0000316
49 otitis media HP:0000388
50 conductive hearing impairment HP:0000405
51 strabismus HP:0000486
52 downslanted palpebral fissures HP:0000494
53 hypermetropia HP:0000540
54 nystagmus HP:0000639
55 behavioral abnormality HP:0000708
56 large hands HP:0001176
57 seizures HP:0001250
58 global developmental delay HP:0001263
59 neonatal hypotonia HP:0001319
60 partial agenesis of the corpus callosum HP:0001338
61 hyperreflexia HP:0001347
62 joint laxity HP:0001388
63 ventricular septal defect HP:0001629
64 atria septal defect HP:0001631
65 patent ductus arteriosus HP:0001643
66 pes planus HP:0001763
67 small nail HP:0001792
68 long foot HP:0001833
69 abnormal glucose tolerance HP:0001952
70 frontal bossing HP:0002007
71 enlarged cisterna magna HP:0002280
72 poor coordination HP:0002370
73 cavum septum pellucidum HP:0002389
74 expressive language delay HP:0002474
75 scoliosis HP:0002650
76 nephroblastoma HP:0002667
77 genu valgum HP:0002857
78 advanced eruption of teeth HP:0006288
79 high anterior hairline HP:0009890

UMLS symptoms related to Sotos Syndrome 1:


seizures, joint laxity

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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZidovudinePhase 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
2
AspirinPhase 4107450-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
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
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
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
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
3
RitonavirPhase 4856155213-67-5392622
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
4
protease inhibitorsPhase 45157
Synonyms:
 
protease inhibitors
5
LamivudinePhase 4605134678-17-460825
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
6
LopinavirPhase 4343192725-17-092727
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
7
EfavirenzPhase 4404154598-52-464139
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1PI Vs. NNRTI Based Therapy for HIV Advanced DiseaseRecruitingNCT00162643Phase 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
5Biobanking of Rett Syndrome and Related DisordersRecruitingNCT02705677
6Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281

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 125 23 NSD1
2 Sotos' Syndrome25

Anatomical Context for Sotos Syndrome 1

About this section

MalaCards organs/tissues related to Sotos Syndrome 1:

34
Eye, Bone, Kidney

Animal Models for Sotos Syndrome 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Sotos Syndrome 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107685.9DPH1, GPC3, NFIX, NRK, NSD1, SETD2

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:

68 (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_015788
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 185)
id Gene Variation Type Significance SNP ID Assembly Location
1NSD1NM_022455.4(NSD1): c.1077delG (p.Arg359Serfs)deletionPathogenicrs587784068GRCh37Chr 5, 176631134: 176631134
2NSD1NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter)single nucleotide variantPathogenicrs587784071GRCh37Chr 5, 176636662: 176636662
3NSD1NM_022455.4(NSD1): c.1456delT (p.Ser486Leufs)deletionPathogenicrs587784073GRCh37Chr 5, 176636856: 176636856
4NSD1NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter)single nucleotide variantPathogenicrs587784076GRCh37Chr 5, 176637210: 176637210
5NSD1NM_022455.4(NSD1): c.1831C> T (p.Arg611Ter)single nucleotide variantPathogenicrs587784077GRCh37Chr 5, 176637231: 176637231
6NSD1NM_022455.4(NSD1): c.2014_2018delACAGA (p.Thr672Glufs)deletionPathogenicrs587784078GRCh37Chr 5, 176637414: 176637418
7NSD1NM_022455.4(NSD1): c.2048delA (p.Lys683Argfs)deletionPathogenicrs587784079GRCh37Chr 5, 176637448: 176637448
8NSD1NM_022455.4(NSD1): c.2049_2053delGATAA (p.Ile684Valfs)deletionPathogenicrs587784080GRCh37Chr 5, 176637449: 176637453
9NSD1NM_022455.4(NSD1): c.2064delG (p.Arg688Serfs)deletionPathogenicrs587784081GRCh38Chr 5, 177210463: 177210463
10NSD1NM_022455.4(NSD1): c.2124_2127delTACA (p.His708Glnfs)deletionPathogenicrs587784082GRCh37Chr 5, 176637524: 176637527
11NSD1NM_022455.4(NSD1): c.2276C> G (p.Ser759Ter)single nucleotide variantPathogenicrs587784084GRCh37Chr 5, 176637676: 176637676
12NSD1NM_022455.4(NSD1): c.2295delC (p.Ser766Argfs)deletionPathogenicrs587784085GRCh37Chr 5, 176637695: 176637695
13NSD1NM_022455.4(NSD1): c.2339C> A (p.Ser780Ter)single nucleotide variantPathogenicrs201327209GRCh37Chr 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)single nucleotide variantPathogenicrs587784088GRCh37Chr 5, 176638054: 176638054
17NSD1NM_022455.4(NSD1): c.2827delG (p.Asp943Thrfs)deletionPathogenicrs587784089GRCh37Chr 5, 176638227: 176638227
18NSD1NM_022455.4(NSD1): c.2954_2955delCT (p.Ser985Cysfs)deletionPathogenicrs587784092GRCh37Chr 5, 176638354: 176638355
19NSD1NM_022455.4(NSD1): c.2956delG (p.Ala986Hisfs)deletionPathogenicrs587784093GRCh37Chr 5, 176638356: 176638356
20NSD1NM_022455.4(NSD1): c.3046_3047delGT (p.Val1016Tyrfs)deletionPathogenicrs587784094GRCh37Chr 5, 176638446: 176638447
21NSD1NM_022455.4(NSD1): c.3067C> T (p.Arg1023Ter)single nucleotide variantPathogenicrs587784095GRCh37Chr 5, 176638467: 176638467
22NSD1NM_022455.4(NSD1): c.3091C> T (p.Arg1031Ter)single nucleotide variantPathogenicrs587784096GRCh37Chr 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)single nucleotide variantPathogenicrs587784098GRCh37Chr 5, 176638614: 176638614
25NSD1NM_022455.4(NSD1): c.3293delC (p.Thr1098Lysfs)deletionPathogenicrs587784099GRCh37Chr 5, 176638693: 176638693
26NSD1NM_022455.4(NSD1): c.3295delA (p.Ser1099Valfs)deletionPathogenicrs587784100GRCh37Chr 5, 176638695: 176638695
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)deletionPathogenicrs587784104GRCh37Chr 5, 176639059: 176639060
30NSD1NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter)single nucleotide variantPathogenicrs587784105GRCh37Chr 5, 176662864: 176662864
31NSD1NM_022455.4(NSD1): c.3964C> T (p.Arg1322Ter)single nucleotide variantPathogenicrs587784107GRCh37Chr 5, 176665280: 176665280
32NSD1NM_022455.4(NSD1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs587784109GRCh37Chr 5, 176665373: 176665373
33NSD1NM_022455.4(NSD1): c.4076C> G (p.Ser1359Ter)single nucleotide variantPathogenicrs587784110GRCh37Chr 5, 176665392: 176665392
34NSD1NM_022455.4(NSD1): c.4192+2T> Gsingle nucleotide variantPathogenicrs587784111GRCh37Chr 5, 176665510: 176665510
35NSD1NM_022455.4(NSD1): c.4301delA (p.Lys1434Serfs)deletionPathogenicrs587784112GRCh37Chr 5, 176666865: 176666865
36NSD1NM_022455.4(NSD1): c.4376delG (p.Gly1459Glufs)deletionPathogenicrs587784114GRCh37Chr 5, 176671269: 176671269
37NSD1NM_022455.4(NSD1): c.4378+1G> Asingle nucleotide variantPathogenicrs587784115GRCh37Chr 5, 176671272: 176671272
38NSD1NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter)single nucleotide variantPathogenicrs570278338GRCh37Chr 5, 176673711: 176673711
39NSD1NM_022455.4(NSD1): c.4417C> T (p.Arg1473Ter)single nucleotide variantPathogenicrs587784117GRCh37Chr 5, 176673717: 176673717
40NSD1NM_022455.4(NSD1): c.4444C> T (p.Gln1482Ter)single nucleotide variantPathogenicrs587784118GRCh37Chr 5, 176673744: 176673744
41NSD1NM_022455.4(NSD1): c.4493C> G (p.Ser1498Ter)single nucleotide variantPathogenicrs587784119GRCh37Chr 5, 176673793: 176673793
42NSD1NM_022455.4(NSD1): c.4498-3A> Gsingle nucleotide variantPathogenicrs587784120GRCh37Chr 5, 176675179: 176675179
43NSD1NM_022455.4(NSD1): c.4529delG (p.Ser1510Thrfs)deletionPathogenicrs587784121GRCh37Chr 5, 176675213: 176675213
44NSD1NM_022455.4(NSD1): c.4681C> T (p.Gln1561Ter)single nucleotide variantPathogenicrs587784122GRCh37Chr 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)deletionPathogenicrs587784125GRCh37Chr 5, 176678834: 176678834
48NSD1NM_022455.4(NSD1): c.4753G> T (p.Glu1585Ter)single nucleotide variantPathogenicrs587784126GRCh37Chr 5, 176678842: 176678842
49NSD1NM_022455.4(NSD1): c.4817G> A (p.Cys1606Tyr)single nucleotide variantLikely pathogenicrs587784127GRCh37Chr 5, 176684003: 176684003
50NSD1NM_022455.4(NSD1): c.4844A> C (p.Tyr1615Ser)single nucleotide variantLikely pathogenicrs398124378GRCh37Chr 5, 176684030: 176684030
51NSD1NM_022455.4(NSD1): c.4855T> A (p.Cys1619Ser)single nucleotide variantPathogenicrs587784128GRCh37Chr 5, 176684041: 176684041
52NSD1NM_022455.4(NSD1): c.4855T> G (p.Cys1619Gly)single nucleotide variantPathogenicrs587784128GRCh37Chr 5, 176684041: 176684041
53NSD1NM_022455.4(NSD1): c.4907C> T (p.Ser1636Phe)single nucleotide variantPathogenicrs587784129GRCh37Chr 5, 176684093: 176684093
54NSD1NM_022455.4(NSD1): c.4966+1G> Asingle nucleotide variantPathogenicrs587784131GRCh37Chr 5, 176684153: 176684153
55NSD1NM_022455.4(NSD1): c.4966G> T (p.Gly1656Cys)single nucleotide variantPathogenicrs587784132GRCh37Chr 5, 176684152: 176684152
56NSD1NM_022455.4(NSD1): c.4967-2A> Tsingle nucleotide variantPathogenicrs587784133GRCh37Chr 5, 176686988: 176686988
57NSD1NM_022455.4(NSD1): c.4987C> T (p.Arg1663Cys)single nucleotide variantPathogenicrs587784134GRCh37Chr 5, 176687010: 176687010
58NSD1NM_022455.4(NSD1): c.5021G> A (p.Cys1674Tyr)single nucleotide variantLikely pathogenicrs587784135GRCh37Chr 5, 176687044: 176687044
59NSD1NM_022455.4(NSD1): c.5098C> T (p.Arg1700Ter)single nucleotide variantPathogenicrs587784137GRCh37Chr 5, 176687121: 176687121
60NSD1NM_022455.4(NSD1): c.5141C> G (p.Ser1714Ter)single nucleotide variantPathogenicrs587784138GRCh37Chr 5, 176687164: 176687164
61NSD1NM_022455.4(NSD1): c.5146+1G> Asingle nucleotide variantPathogenicrs587784139GRCh37Chr 5, 176687170: 176687170
62NSD1NM_022455.4(NSD1): c.5198G> A (p.Cys1733Tyr)single nucleotide variantLikely pathogenicrs587784140GRCh37Chr 5, 176694614: 176694614
63NSD1NM_022455.4(NSD1): c.5303+1G> Csingle nucleotide variantPathogenicrs587784141GRCh37Chr 5, 176694720: 176694720
64NSD1NM_022455.4(NSD1): c.5309G> A (p.Trp1770Ter)single nucleotide variantPathogenicrs587784142GRCh37Chr 5, 176696608: 176696608
65NSD1NM_022455.4(NSD1): c.5375G> A (p.Gly1792Glu)single nucleotide variantPathogenicrs587784143GRCh37Chr 5, 176696674: 176696674
66NSD1NM_022455.4(NSD1): c.5390T> C (p.Leu1797Pro)single nucleotide variantLikely pathogenicrs587784144GRCh37Chr 5, 176696689: 176696689
67NSD1NM_022455.4(NSD1): c.5392_5398delTTTTTTG (p.Phe1798Aspfs)deletionPathogenicrs587784145GRCh37Chr 5, 176696691: 176696697
68NSD1NM_022455.4(NSD1): c.5419A> C (p.Thr1807Pro)single nucleotide variantLikely pathogenicrs587784146GRCh37Chr 5, 176696718: 176696718
69NSD1NM_022455.4(NSD1): c.5425C> T (p.Gln1809Ter)single nucleotide variantPathogenicrs587784147GRCh37Chr 5, 176696724: 176696724
70NSD1NM_022455.4(NSD1): c.5431C> T (p.Arg1811Ter)single nucleotide variantPathogenicrs587784148GRCh37Chr 5, 176696730: 176696730
71NSD1NM_022455.4(NSD1): c.5432G> A (p.Arg1811Gln)single nucleotide variantPathogenicrs587784149GRCh37Chr 5, 176696731: 176696731
72NSD1NM_022455.4(NSD1): c.5471A> G (p.Asp1824Gly)single nucleotide variantLikely pathogenicrs587784150GRCh37Chr 5, 176696770: 176696770
73NSD1NM_022455.4(NSD1): c.5566C> T (p.Gln1856Ter)single nucleotide variantPathogenicrs587784151GRCh37Chr 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)single nucleotide variantPathogenicrs587784154GRCh37Chr 5, 176707683: 176707683
77NSD1NM_022455.4(NSD1): c.5741G> C (p.Arg1914Pro)single nucleotide variantLikely pathogenicrs587784155GRCh37Chr 5, 176707684: 176707684
78NSD1NM_022455.4(NSD1): c.5798A> G (p.Asn1933Ser)single nucleotide variantLikely pathogenicrs587784156GRCh37Chr 5, 176707741: 176707741
79NSD1NM_022455.4(NSD1): c.5800C> T (p.Gln1934Ter)single nucleotide variantPathogenicrs587784157GRCh37Chr 5, 176707743: 176707743
80NSD1NM_022455.4(NSD1): c.5805C> A (p.Cys1935Ter)single nucleotide variantPathogenicrs587784158GRCh37Chr 5, 176707748: 176707748
81NSD1NM_022455.4(NSD1): c.5862G> C (p.Trp1954Cys)single nucleotide variantPathogenicrs587784160GRCh37Chr 5, 176707805: 176707805
82NSD1NM_022455.4(NSD1): c.5885T> C (p.Ile1962Thr)single nucleotide variantPathogenicrs587784162GRCh37Chr 5, 176707828: 176707828
83NSD1NM_022455.4(NSD1): c.5893-2A> Gsingle nucleotide variantPathogenicrs587784163GRCh37Chr 5, 176709464: 176709464
84NSD1NM_022455.4(NSD1): c.5903delT (p.Val1968Glyfs)deletionPathogenicrs587784164GRCh37Chr 5, 176709476: 176709476
85NSD1NM_022455.4(NSD1): c.5911delT (p.Tyr1971Metfs)deletionPathogenicrs587784165GRCh37Chr 5, 176709484: 176709484
86NSD1NM_022455.4(NSD1): c.5918G> T (p.Gly1973Val)single nucleotide variantLikely pathogenicrs587784166GRCh37Chr 5, 176709491: 176709491
87NSD1NM_022455.4(NSD1): c.5927T> A (p.Ile1976Lys)single nucleotide variantLikely pathogenicrs587784167GRCh37Chr 5, 176709500: 176709500
88NSD1NM_022455.4(NSD1): c.5938G> T (p.Glu1980Ter)single nucleotide variantPathogenicrs587784168GRCh37Chr 5, 176709511: 176709511
89NSD1NM_022455.4(NSD1): c.5951G> A (p.Arg1984Gln)single nucleotide variantPathogenicrs587784169GRCh37Chr 5, 176709524: 176709524
90NSD1NM_022455.4(NSD1): c.5965C> T (p.Gln1989Ter)single nucleotide variantPathogenicrs587784170GRCh37Chr 5, 176709538: 176709538
91NSD1NM_022455.4(NSD1): c.5989T> C (p.Tyr1997His)single nucleotide variantPathogenicrs587784171GRCh37Chr 5, 176709562: 176709562
92NSD1NM_022455.4(NSD1): c.6013C> T (p.Arg2005Ter)single nucleotide variantPathogenicrs587784173GRCh37Chr 5, 176710791: 176710791
93NSD1NM_022455.4(NSD1): c.6014G> A (p.Arg2005Gln)single nucleotide variantPathogenicrs587784174GRCh37Chr 5, 176710792: 176710792
94NSD1NM_022455.4(NSD1): c.6043T> C (p.Tyr2015His)single nucleotide variantLikely pathogenicrs587784175GRCh37Chr 5, 176710821: 176710821
95NSD1NM_022455.4(NSD1): c.6049C> T (p.Arg2017Trp)single nucleotide variantPathogenicrs587784176GRCh37Chr 5, 176710827: 176710827
96NSD1NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)single nucleotide variantPathogenicrs587784177GRCh37Chr 5, 176710828: 176710828
97NSD1NM_022455.4(NSD1): c.6059A> G (p.Asn2020Ser)single nucleotide variantPathogenicrs587784178GRCh37Chr 5, 176710837: 176710837
98NSD1NM_022455.4(NSD1): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs587784179GRCh37Chr 5, 176710848: 176710848
99NSD1NM_022455.4(NSD1): c.6080G> C (p.Cys2027Ser)single nucleotide variantLikely pathogenicrs587784180GRCh37Chr 5, 176710858: 176710858
100NSD1NM_022455.4(NSD1): c.6086C> T (p.Thr2029Ile)single nucleotide variantLikely pathogenicrs587784181GRCh37Chr 5, 176710864: 176710864
101NSD1NM_022455.4(NSD1): c.6157G> T (p.Glu2053Ter)single nucleotide variantPathogenicrs587784183GRCh37Chr 5, 176715825: 176715825
102NSD1NM_022455.4(NSD1): c.6165delC (p.Phe2056Serfs)deletionPathogenicrs587784184GRCh37Chr 5, 176715833: 176715833
103NSD1NM_022455.4(NSD1): c.6258+1G> Asingle nucleotide variantPathogenicrs587784185GRCh37Chr 5, 176715927: 176715927
104NSD1NM_022455.4(NSD1): c.6291delG (p.Lys2098Asnfs)deletionPathogenicrs587784186GRCh38Chr 5, 177291986: 177291986
105NSD1NM_022455.4(NSD1): c.6307C> T (p.Gln2103Ter)single nucleotide variantPathogenicrs587784187GRCh37Chr 5, 176719003: 176719003
106NSD1NM_022455.4(NSD1): c.6310C> T (p.Gln2104Ter)single nucleotide variantPathogenicrs587784188GRCh37Chr 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)single nucleotide variantPathogenicrs587784190GRCh37Chr 5, 176719045: 176719045
109NSD1NM_022455.4(NSD1): c.6356A> G (p.Asp2119Gly)single nucleotide variantPathogenicrs587784191GRCh37Chr 5, 176719052: 176719052
110NSD1NM_022455.4(NSD1): c.6366delT (p.Phe2122Leufs)deletionPathogenicrs587784192GRCh37Chr 5, 176719062: 176719062
111NSD1NM_022455.4(NSD1): c.6377A> T (p.Asp2126Val)single nucleotide variantPathogenicrs587784193GRCh37Chr 5, 176719073: 176719073
112NSD1NM_022455.4(NSD1): c.6413G> A (p.Cys2138Tyr)single nucleotide variantLikely pathogenicrs587784195GRCh37Chr 5, 176719109: 176719109
113NSD1NM_022455.4(NSD1): c.6418A> G (p.Lys2140Glu)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs587784199GRCh37Chr 5, 176719150: 176719150
117NSD1NM_022455.4(NSD1): c.6455G> A (p.Arg2152Gln)single nucleotide variantPathogenicrs587784200GRCh37Chr 5, 176719151: 176719151
118NSD1NM_022455.4(NSD1): c.6472G> T (p.Glu2158Ter)single nucleotide variantPathogenicrs587784201GRCh37Chr 5, 176720841: 176720841
119NSD1NM_022455.4(NSD1): c.6476G> A (p.Cys2159Tyr)single nucleotide variantPathogenicrs587784202GRCh37Chr 5, 176720845: 176720845
120NSD1NM_022455.4(NSD1): c.6485A> C (p.His2162Pro)single nucleotide variantLikely pathogenicrs587784204GRCh37Chr 5, 176720854: 176720854
121NSD1NM_022455.4(NSD1): c.6500G> A (p.Cys2167Tyr)single nucleotide variantLikely pathogenicrs587784205GRCh37Chr 5, 176720869: 176720869
122NSD1NM_022455.4(NSD1): c.6521_6523delTCT (p.Phe2174del)deletionPathogenicrs587784206GRCh37Chr 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)single nucleotide variantLikely pathogenicrs587784208GRCh37Chr 5, 176720926: 176720926
125NSD1NM_022455.4(NSD1): c.6559C> T (p.Arg2187Ter)single nucleotide variantPathogenicrs587784209GRCh37Chr 5, 176720928: 176720928
126NSD1NM_022455.4(NSD1): c.6604T> A (p.Cys2202Ser)single nucleotide variantPathogenicrs587784210GRCh37Chr 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)single nucleotide variantPathogenicrs587784214GRCh37Chr 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)single nucleotide variantPathogenicrs794727176GRCh37Chr 5, 176696631: 176696631
133NSD1NM_022455.4(NSD1): c.4217_4220delGAAA (p.Arg1406Asnfs)deletionPathogenicrs794727930GRCh38Chr 5, 177239780: 177239783
134NSD1NM_022455.4(NSD1): c.1742delA (p.Glu581Aspfs)deletionPathogenicrs794729232GRCh38Chr 5, 177210141: 177210141
135NSD1NM_022455.4(NSD1): c.5950C> T (p.Arg1984Ter)single nucleotide variantPathogenicrs797045057GRCh37Chr 5, 176709523: 176709523
136NSD1NM_022455.4(NSD1): c.7966C> T (p.Gln2656Ter)single nucleotide variantPathogenicrs797045058GRCh37Chr 5, 176722335: 176722335
137NSD1NM_022455.4(NSD1): c.(?_-138)_(7458_?)deldeletionPathogenic
138NSD1NM_022455.4(NSD1): c.1264dupG (p.Glu422Glyfs)duplicationPathogenicrs797045804GRCh37Chr 5, 176636664: 176636664
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)deletionPathogenicrs797045811GRCh38Chr 5, 177211658: 177211664
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)duplicationPathogenicrs797045815GRCh37Chr 5, 176665255: 176665255
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)duplicationPathogenicrs797045818GRCh38Chr 5, 177239864: 177239864
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)duplicationPathogenicrs797045824GRCh38Chr 5, 177280732: 177280732
158NSD1NM_022455.4(NSD1): c.5990A> G (p.Tyr1997Cys)single nucleotide variantPathogenicrs797045825GRCh38Chr 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)duplicationPathogenicrs797045828GRCh38Chr 5, 177288885: 177288885
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)duplicationPathogenicrs797045831GRCh38Chr 5, 177292039: 177292039
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)single nucleotide variantPathogenicrs797045834GRCh38Chr 5, 177295151: 177295151
168NSD1NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter)single nucleotide variantLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
169NSD1NM_022455.4(NSD1): c.5304-1G> Csingle nucleotide variantLikely pathogenicrs863224905GRCh37Chr 5, 176696602: 176696602
170NSD1NM_022455.4(NSD1): c.6534dupC (p.Ser2180Glnfs)duplicationPathogenicGRCh38Chr 5, 177293902: 177293902
171NSD1NSD1, 1.9-MB DELdeletionPathogenic
172NSD1NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter)single nucleotide variantPathogenicrs121908067GRCh37Chr 5, 176636710: 176636710
173NSD1NSD1, 1-BP DEL, 3536AdeletionPathogenic
174NSD1NSD1, 1-BP INS, 5998TinsertionPathogenic
175NSD1NSD1, IVS20DS, G-A, +1single nucleotide variantPathogenic
176NSD1NM_022455.4(NSD1): c.6429C> G (p.His2143Gln)single nucleotide variantPathogenicrs121908068GRCh37Chr 5, 176719125: 176719125
177NSD1NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser)single nucleotide variantPathogenicrs121908069GRCh37Chr 5, 176720917: 176720917
178NSD1NM_022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs)duplicationPathogenicrs864309639GRCh37Chr 5, 176719146: 176719146
179NSD1NSD1, 1-BP DEL, 896CdeletionPathogenic
180NSD1NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter)single nucleotide variantPathogenicrs121908070GRCh37Chr 5, 176665274: 176665274
181NSD1NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr)single nucleotide variantPathogenicrs121908071GRCh37Chr 5, 176720974: 176720974
182NSD1NM_022455.4(NSD1): c.2349delA (p.Lys783Asnfs)deletionPathogenicrs398124374GRCh37Chr 5, 176637749: 176637749
183NSD1NM_022455.4(NSD1): c.5279_5282delTCTG (p.Val1760Glyfs)deletionPathogenicrs398124379GRCh37Chr 5, 176694695: 176694698
184NSD1NM_022455.4(NSD1): c.6463+1G> Asingle nucleotide variantPathogenicrs398124381GRCh37Chr 5, 176719160: 176719160
185NSD1NM_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
18.8NSD1, SETD2, WHSC1, WHSC1L1

GO Terms for genes affiliated with Sotos Syndrome 1

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Cellular components related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:00056948.8NSD1, SETD2, WHSC1, WHSC1L1

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

idNameGO IDScoreTop Affiliating Genes
1histone H4-K20 methylationGO:003477010.3NSD1, WHSC1
2histone H3-K36 methylationGO:001045210.0NSD1, SETD2, WHSC1
3glycosaminoglycan biosynthetic processGO:00060249.8B4GALT7, GPC3, XYLT2
4glycosaminoglycan metabolic processGO:00302039.8B4GALT7, GPC3
5histone methylationGO:00165719.4NSD1, WHSC1L1
6embryonic organ developmentGO:00485689.4SETD2, ZFP36L1

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

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase activity (H3-K36 specific)GO:004697510.0NSD1, SETD2
2histone methyltransferase activity (H4-K20 specific)GO:004279910.0NSD1, WHSC1
3histone-lysine N-methyltransferase activityGO:00180248.8NSD1, SETD2, WHSC1, WHSC1L1

Sources for Sotos Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet