SOTOS2
MCID: STS007
MIFTS: 28

Sotos Syndrome 2 (SOTOS2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 58 60 76 30 13 6 74
Malan Syndrome 58 76
Sotos2 58 76
Malan Overgrowth Syndrome 60
Sotos Syndrome, Type 2 41

Characteristics:

Orphanet epidemiological data:

60
malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
sotos syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : 76 Sotos syndrome 2: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.

MalaCards based summary : Sotos Syndrome 2, also known as malan syndrome, is related to aortic aneurysm, familial thoracic 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone and eye, and related phenotypes are macrocephaly and pectus excavatum

Description from OMIM: 614753

Related Diseases for Sotos Syndrome 2

Diseases in the Sotos Syndrome 1 family:

Sotos Syndrome 2 Sotos Syndrome 3

Diseases related to Sotos Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 1 10.0
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 epilepsy 10.0
4 aortic aneurysm 10.0
5 chiari malformation 10.0
6 sotos syndrome 1 9.9

Graphical network of the top 20 diseases related to Sotos Syndrome 2:



Diseases related to Sotos Syndrome 2

Symptoms & Phenotypes for Sotos Syndrome 2

Human phenotypes related to Sotos Syndrome 2:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 pectus excavatum 33 HP:0000767
3 nystagmus 33 HP:0000639
4 intellectual disability 33 HP:0001249
5 scoliosis 33 HP:0002650
6 mandibular prognathia 33 HP:0000303
7 delayed speech and language development 33 HP:0000750
8 strabismus 33 HP:0000486
9 coxa valga 33 HP:0002673
10 everted lower lip vermilion 33 HP:0000232
11 anxiety 33 HP:0000739
12 ventriculomegaly 33 HP:0002119
13 motor delay 33 HP:0001270
14 narrow face 33 HP:0000275
15 downslanted palpebral fissures 33 HP:0000494
16 narrow mouth 33 HP:0000160
17 long face 33 HP:0000276
18 high forehead 33 HP:0000348
19 advanced eruption of teeth 33 HP:0006288
20 accelerated skeletal maturation 33 HP:0005616
21 astigmatism 33 HP:0000483
22 generalized hypotonia 33 HP:0001290
23 cutis marmorata 33 HP:0000965
24 overgrowth 33 HP:0001548
25 long fingers 33 HP:0100807
26 hypermetropia 33 HP:0000540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
high forehead

Head And Neck Eyes:
nystagmus
strabismus
astigmatism
hypermetropia
downslanting palpebral fissures

Head And Neck Face:
narrow face
long face

Neurologic Central Nervous System:
hypotonia
mental retardation
motor retardation
speech delay
ventricular dilatation
more
Head And Neck Mouth:
small mouth
prognathia
everted lower lip

Growth Height:
birth height above centile 95
postnatal height above centile 98

Growth Other:
height-weight ratio bellow centile 25

Skin Nails Hair Skin:
livedo reticularis, generalized

Neurologic Behavioral Psychiatric Manifestations:
autistic traits
behavioral anomalies

Chest External Features:
pectus excavatum

Skeletal Limbs:
coxa valga

Skeletal Hands:
long fingers

Skeletal:
advanced bone age

Head And Neck Teeth:
premature eruption of teeth

Growth Weight:
birth weight above centile 95

Abdomen External Features:
abdominal wall hypotonia

Skin Nails Hair Nails:
malformed nails

Clinical features from OMIM:

614753

Drugs & Therapeutics for Sotos Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Sotos Syndrome 2

Genetic Tests for Sotos Syndrome 2

Genetic tests related to Sotos Syndrome 2:

# Genetic test Affiliating Genes
1 Sotos Syndrome 2 30 NFIX

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

42
Bone, Eye

Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

# Title Authors Year
1
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. ( 26927468 )
2016
2
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. ( 22301465 )
2012
3
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. ( 20673863 )
2010

Variations for Sotos Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 NFIX p.Leu60Pro VAR_068720 rs387907254
2 NFIX p.Arg121Pro VAR_068721 rs387907255
3 NFIX p.Arg38Cys VAR_077571
4 NFIX p.Arg54Pro VAR_077572
5 NFIX p.Arg116Pro VAR_077573
6 NFIX p.Lys125Glu VAR_077574

ClinVar genetic disease variations for Sotos Syndrome 2:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFIX NM_002501.3(NFIX): c.568C> T (p.Gln190Ter) single nucleotide variant Pathogenic rs387907253 GRCh37 Chromosome 19, 13183869: 13183869
2 NFIX NM_002501.3(NFIX): c.568C> T (p.Gln190Ter) single nucleotide variant Pathogenic rs387907253 GRCh38 Chromosome 19, 13073055: 13073055
3 NFIX NM_002501.3(NFIX): c.179T> C (p.Leu60Pro) single nucleotide variant Pathogenic rs387907254 GRCh37 Chromosome 19, 13135986: 13135986
4 NFIX NM_002501.3(NFIX): c.179T> C (p.Leu60Pro) single nucleotide variant Pathogenic rs387907254 GRCh38 Chromosome 19, 13025172: 13025172
5 NFIX NM_002501.3(NFIX): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs387907255 GRCh37 Chromosome 19, 13136169: 13136169
6 NFIX NM_002501.3(NFIX): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs387907255 GRCh38 Chromosome 19, 13025355: 13025355
7 NFIX NM_002501.3(NFIX): c.716C> G (p.Ser239Ter) single nucleotide variant Pathogenic rs587779381 GRCh37 Chromosome 19, 13184738: 13184738
8 NFIX NM_002501.3(NFIX): c.716C> G (p.Ser239Ter) single nucleotide variant Pathogenic rs587779381 GRCh38 Chromosome 19, 13073924: 13073924
9 NFIX NM_001271043.2(NFIX): c.1164G> A (p.Ser388=) single nucleotide variant Benign rs201174259 GRCh37 Chromosome 19, 13192555: 13192555
10 NFIX NM_001271043.2(NFIX): c.1164G> A (p.Ser388=) single nucleotide variant Benign rs201174259 GRCh38 Chromosome 19, 13081741: 13081741
11 NFIX NM_002501.3(NFIX): c.338_342dup (p.Arg116Serfs) duplication Pathogenic rs797045056 GRCh37 Chromosome 19, 13136145: 13136149
12 NFIX NM_002501.3(NFIX): c.338_342dup (p.Arg116Serfs) duplication Pathogenic rs797045056 GRCh38 Chromosome 19, 13025331: 13025335
13 NFIX NM_001271043.2(NFIX): c.207G> A (p.Leu69=) single nucleotide variant Likely benign rs369196245 GRCh37 Chromosome 19, 13135990: 13135990
14 NFIX NM_001271043.2(NFIX): c.207G> A (p.Leu69=) single nucleotide variant Likely benign rs369196245 GRCh38 Chromosome 19, 13025176: 13025176
15 NFIX NM_001271043.2(NFIX): c.97del (p.Ala33Leufs) deletion Pathogenic rs1135401802 GRCh37 Chromosome 19, 13135880: 13135880
16 NFIX NM_001271043.2(NFIX): c.97del (p.Ala33Leufs) deletion Pathogenic rs1135401802 GRCh38 Chromosome 19, 13025066: 13025066
17 NFIX NC_000019.9: g.(?_13106632)_(13428155_?)del deletion Pathogenic GRCh37 Chromosome 19, 13106632: 13428155
18 NFIX NM_002501.3(NFIX): c.467G> C (p.Cys156Ser) single nucleotide variant Likely pathogenic rs1555696641 GRCh37 Chromosome 19, 13136274: 13136274
19 NFIX NM_002501.3(NFIX): c.467G> C (p.Cys156Ser) single nucleotide variant Likely pathogenic rs1555696641 GRCh38 Chromosome 19, 13025460: 13025460
20 NFIX NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs) deletion Pathogenic rs1555696611 GRCh37 Chromosome 19, 13136165: 13136165
21 NFIX NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs) deletion Pathogenic rs1555696611 GRCh38 Chromosome 19, 13025351: 13025351
22 NFIX NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu) single nucleotide variant Likely pathogenic rs1555696597 GRCh37 Chromosome 19, 13136144: 13136144
23 NFIX NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu) single nucleotide variant Likely pathogenic rs1555696597 GRCh38 Chromosome 19, 13025330: 13025330
24 NFIX NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 13184809: 13184809
25 NFIX NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 13073995: 13073995
26 NFIX NC_000019.10: g.(?_13075535)_(13078735_?)del deletion Pathogenic GRCh38 Chromosome 19, 13075535: 13078735
27 NFIX NC_000019.10: g.(?_13075535)_(13078735_?)del deletion Pathogenic GRCh37 Chromosome 19, 13186349: 13189549
28 NFIX NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 13078645: 13078645
29 NFIX NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 13189459: 13189459
30 NFIX NM_001271043.2(NFIX): c.979+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 13186487: 13186487
31 NFIX NM_001271043.2(NFIX): c.979+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 13075673: 13075673
32 NFIX NM_001271043.2(NFIX): c.160A> T (p.Lys54Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 13025129: 13025129
33 NFIX NM_001271043.2(NFIX): c.160A> T (p.Lys54Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 13135943: 13135943

Expression for Sotos Syndrome 2

Search GEO for disease gene expression data for Sotos Syndrome 2.

Pathways for Sotos Syndrome 2

GO Terms for Sotos Syndrome 2

Sources for Sotos Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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