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SOTOS1
MCID: STS008
MIFTS: 56
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Sotos Syndrome 1 (SOTOS1)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Sotos Syndrome 1:
Characteristics:Orphanet epidemiological data:59
sotos syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
majority of cases are sporadic de novo mutation few familial (parent offspring) cases reported slight increased risk for malignancy HPO:32GeneReviews:24
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Neuronal diseases Oral diseases Mental diseases
ICD10:
33
34
External Ids:
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NINDS
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54
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 An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Lysine degradation and PKMTs methylate histone lysines. Affiliated tissues include eye, bone and testes, and related phenotypes are macrocephaly and hypertelorism Disease Ontology : 12 An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. Genetics Home Reference : 25 Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range. NIH Rare Diseases : 53 Sotos syndromeis a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited). UniProtKB/Swiss-Prot : 75 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 : 76 Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by... more...
Description from OMIM:
117550
GeneReviews:
NBK1479
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:117550Human phenotypes related to Sotos Syndrome 1:59 32 (show top 50) (show all 72)
UMLS symptoms related to Sotos Syndrome 1:seizures |
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Cochrane evidence based reviews: sotos syndrome |
MalaCards organs/tissues related to Sotos Syndrome 1:41
Eye,
Bone,
Testes,
Heart,
Lung,
Kidney,
Liver
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Articles related to Sotos Syndrome 1:(show top 50) (show all 252)
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Genes related to Sotos Syndrome 1 (3 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 1:75 (show all 14)
ClinVar genetic disease variations for Sotos Syndrome 1:6 (show top 50) (show all 734)
Copy number variations for Sotos Syndrome 1 from CNVD:7 (show all 39)
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Search
GEO
for disease gene expression data for Sotos Syndrome 1.
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Pathways related to Sotos Syndrome 1 according to KEGG:37
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Cellular components related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:
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