MCID: STS008
MIFTS: 46

Sotos Syndrome 1 malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Cancer diseases categories

Summaries for Sotos Syndrome 1

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NIH Rare Diseases:41 Sotos syndrome is a condition characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. affected individuals have facial features, most prominant in childhood, that 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). affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. people with sotos syndrome often have intellectual impairment, and most also have behavioral problems. problems with speech and language are also common. additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. sotos syndrome is caused by mutations in the nsd1 gene. about 95% of cases represent new mutations and occur in families with no history of the condition. in a small number of families, the condition appears to be inherited in an autosomal dominant pattern. last updated: 5/27/2011 references sotos syndrome. genetics home reference. june 2006; http://ghr.nlm.nih.gov/condition/sotos-syndrome. accessed 4/15/2011. your questions answered by the genetic and rare diseases information center 1 question(s) from the public on sotos syndrome have been answered. see questions and answers . you can also submit a new question.

MalaCards based summary: Sotos Syndrome 1, also known as sotos syndrome, is related to gigantism and cerebritis, and has symptoms including tall stature, abnormality of the palate and macrocephaly. 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. The compounds s-adenosylmethionine and l-lysine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related mouse phenotypes are craniofacial and mortality/aging.

Disease Ontology:9 An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

NINDS:42 Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.

Genetics Home Reference:21 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.

Description from OMIM:45 117550

GeneReviews summary for sotos

Aliases & Classifications for Sotos Syndrome 1

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Sotos Syndrome 1, Aliases & Descriptions:

Name: Sotos Syndrome 1 45 10
Sotos Syndrome 9 19 41 20 21 42 11 43 47
Cerebral Gigantism 9 19 41 21 42 47
 
Sotos' Syndrome 21 22 60
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 41
Sotos Sequence 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
sotos syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 117550
Disease Ontology9 DOID:14748
MeSH33 D058495
NCIt38 C75019
SNOMED-CT55 75968004
Orphanet47 821
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet61 C0175695
MESH via Orphanet34 D058495

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:

 47 (show all 47)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • high forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • prognathism/prognathia
  • flattened nose
  • high vaulted/narrow palate
  • long/large ear
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • advanced bone age
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • dolichocephaly/scaphocephaly
  • anteverted nares/nostrils
  • premature eruption of teeth/natal teeth
  • conductive deafness/hearing loss
  • hypoglycemia
  • precocious puberty
  • dilated cerebral ventricles without hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • generalized obesity
  • craniostenosis/craniosynostosis/sutural synostosis
  • coarse face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • strabismus/squint
  • scoliosis
  • sacrococcygeal teratoma
  • genu valgum
  • genu varum
  • abnormal fingernails
  • cardiac septal defect
  • patent ductus arteriosus
  • polycystic kidneys
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • eeg anomalies
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/behavioural troubles
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • neoplasms/tumors
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Sotos Syndrome 1:

(show all 87)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 abnormality of the palate hallmark (90%) HP:0000174
3 macrocephaly hallmark (90%) HP:0000256
4 mandibular prognathia hallmark (90%) HP:0000303
5 hypertelorism hallmark (90%) HP:0000316
6 high forehead hallmark (90%) HP:0000348
7 macrotia hallmark (90%) HP:0000400
8 depressed nasal ridge hallmark (90%) HP:0000457
9 downslanted palpebral fissures hallmark (90%) HP:0000494
10 muscular hypotonia hallmark (90%) HP:0001252
11 frontal bossing hallmark (90%) HP:0002007
12 accelerated skeletal maturation hallmark (90%) HP:0005616
13 cognitive impairment hallmark (90%) HP:0100543
14 dolichocephaly typical (50%) HP:0000268
15 conductive hearing impairment typical (50%) HP:0000405
16 anteverted nares typical (50%) HP:0000463
17 precocious puberty typical (50%) HP:0000826
18 obesity typical (50%) HP:0001513
19 hypoglycemia typical (50%) HP:0001943
20 ventriculomegaly typical (50%) HP:0002119
21 advanced eruption of teeth typical (50%) HP:0006288
22 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
23 abnormality of immune system physiology typical (50%) HP:0010978
24 cryptorchidism occasional (7.5%) HP:0000028
25 abnormality of the ureter occasional (7.5%) HP:0000069
26 polycystic kidney dysplasia occasional (7.5%) HP:0000113
27 coarse facial features occasional (7.5%) HP:0000280
28 micrognathia occasional (7.5%) HP:0000347
29 strabismus occasional (7.5%) HP:0000486
30 behavioral abnormality occasional (7.5%) HP:0000708
31 abnormality of the fingernails occasional (7.5%) HP:0001231
32 seizures occasional (7.5%) HP:0001250
33 hyperreflexia occasional (7.5%) HP:0001347
34 craniosynostosis occasional (7.5%) HP:0001363
35 patent ductus arteriosus occasional (7.5%) HP:0001643
36 abnormality of the cardiac septa occasional (7.5%) HP:0001671
37 eeg abnormality occasional (7.5%) HP:0002353
38 scoliosis occasional (7.5%) HP:0002650
39 genu valgum occasional (7.5%) HP:0002857
40 genu varum occasional (7.5%) HP:0002970
41 abnormality of the hip bone occasional (7.5%) HP:0003272
42 neoplasm of the nervous system occasional (7.5%) HP:0004375
43 presacral teratoma occasional (7.5%) HP:0009793
44 displacement of the external urethral meatus occasional (7.5%) HP:0100627
45 tall stature HP:0000098
46 macrocephaly HP:0000256
47 mandibular prognathia HP:0000303
48 intellectual disability HP:0001249
49 accelerated skeletal maturation HP:0005616
50 autosomal dominant inheritance HP:0000006
51 narrow palate HP:0000189
52 high palate HP:0000218
53 dolichocephaly HP:0000268
54 pointed chin HP:0000307
55 hypertelorism HP:0000316
56 otitis media HP:0000388
57 conductive hearing impairment HP:0000405
58 strabismus HP:0000486
59 downslanted palpebral fissures HP:0000494
60 hypermetropia HP:0000540
61 nystagmus HP:0000639
62 behavioral abnormality HP:0000708
63 large hands HP:0001176
64 seizures HP:0001250
65 global developmental delay HP:0001263
66 neonatal hypotonia HP:0001319
67 partial agenesis of the corpus callosum HP:0001338
68 hyperreflexia HP:0001347
69 joint laxity HP:0001388
70 ventricular septal defect HP:0001629
71 defect in the atrial septum HP:0001631
72 patent ductus arteriosus HP:0001643
73 pes planus HP:0001763
74 small nail HP:0001792
75 long foot HP:0001833
76 abnormal glucose tolerance HP:0001952
77 frontal bossing HP:0002007
78 enlarged cisterna magna HP:0002280
79 poor coordination HP:0002370
80 cavum septum pellucidum HP:0002389
81 expressive language delay HP:0002474
82 scoliosis HP:0002650
83 nephroblastoma (wilms tumor) HP:0002667
84 genu valgum HP:0002857
85 sporadic HP:0003745
86 advanced eruption of teeth HP:0006288
87 high anterior hairline HP:0009890

Drugs & Therapeutics for Sotos Syndrome 1

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Drug clinical trials:

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Search NIH Clinical Center for Sotos Syndrome 1

Genetic Tests for Sotos Syndrome 1

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Genetic tests related to Sotos Syndrome 1:

id Genetic test Affiliating Genes
1 Sotos Syndrome20 NSD1
2 Sotos' Syndrome22

Anatomical Context for Sotos Syndrome 1

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MalaCards organs/tissues related to Sotos Syndrome 1:

31
Eye, Bone, Kidney, Testes

Animal Models for Sotos Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Sotos Syndrome 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1NFIX, SETD2
2MP:00107688.2NFIX, NSD1, SETD2

Publications for Sotos Syndrome 1

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Articles related to Sotos Syndrome 1:

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

Variations for Sotos Syndrome 1

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

62 (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_015787
9NSD1p.Tyr1997CysVAR_015788
10NSD1p.Arg2005GlnVAR_015789
11NSD1p.Arg2017GlnVAR_015790
12NSD1p.Arg2017TrpVAR_015791
13NSD1p.His2143GlnVAR_015792
14NSD1p.Cys2183SerVAR_015793

Clinvar genetic disease variations for Sotos Syndrome 1:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1NFIXNM_002501.3(NFIX): c.568C> T (p.Gln190Ter)single nucleotide variantPathogenicrs387907253GRCh37Chr 19, 13183869: 13183869
2NFIXNM_002501.3(NFIX): c.179T> C (p.Leu60Pro)single nucleotide variantPathogenicrs387907254GRCh37Chr 19, 13135986: 13135986
3NFIXNM_002501.3(NFIX): c.362G> C (p.Arg121Pro)single nucleotide variantPathogenicrs387907255GRCh37Chr 19, 13136169: 13136169
4NSD1NSD1, 1.9-MB DELdeletionPathogenic
5NSD1NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter)single nucleotide variantPathogenicrs121908067GRCh37Chr 5, 176636710: 176636710
6NSD1NSD1, 1-BP DEL, 3536AdeletionPathogenic
7NSD1NSD1, 1-BP INS, 5998TinsertionPathogenic
8NSD1NSD1, IVS20DS, G-A, +1single nucleotide variantPathogenic
9NSD1NM_022455.4(NSD1): c.6429C> G (p.His2143Gln)single nucleotide variantPathogenicrs121908068GRCh37Chr 5, 176719125: 176719125
10NSD1NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser)single nucleotide variantPathogenicrs121908069GRCh37Chr 5, 176720917: 176720917
11NSD1NSD1, 1-BP INS, 6450CinsertionPathogenic
12NSD1NSD1, 1-BP DEL, 896CdeletionPathogenic
13NSD1NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter)single nucleotide variantPathogenicrs121908070GRCh37Chr 5, 176665274: 176665274
14NSD1NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr)single nucleotide variantPathogenicrs121908071GRCh37Chr 5, 176720974: 176720974
15NFIXNM_002501.3(NFIX): c.716C> G (p.Ser239Ter)single nucleotide variantPathogenicGRCh37Chr 19, 13184738: 13184738

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3NSD1, SETD2

Compounds for genes affiliated with Sotos Syndrome 1

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1s-adenosylmethionine43 24 1211.3NSD1, SETD2
2l-lysine28 24 1211.2NSD1, SETD2
3s-adenosylhomocysteine43 2410.0NSD1, SETD2

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:00056949.0NSD1, SETD2
2nucleusGO:00056348.5NFIX, NSD1, SETD2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:00001229.0NFIX, NSD1

Products for genes affiliated with Sotos Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sotos Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet