SOTOS2
MCID: STS007
MIFTS: 32

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 57 59 74 29 13 6 72
Malan Syndrome 57 74
Sotos2 57 74
Malan Overgrowth Syndrome 59
Sotos Syndrome, Type 2 40

Characteristics:

Orphanet epidemiological data:

59
malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
sotos syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D058495
ICD10 via Orphanet 34 Q87.3
Orphanet 59 ORPHA420179
UMLS 72 C3553660

Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : 74 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 marshall-smith syndrome 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

More information from OMIM: 614753 PS117550

Related Diseases for Sotos Syndrome 2

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:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 Frequent (79-30%) HP:0000256
2 pectus excavatum 59 32 Frequent (79-30%) HP:0000767
3 nystagmus 59 32 Occasional (29-5%) HP:0000639
4 scoliosis 59 32 Occasional (29-5%) HP:0002650
5 strabismus 59 32 Frequent (79-30%) HP:0000486
6 narrow mouth 59 32 Occasional (29-5%) HP:0000160
7 anxiety 59 32 Occasional (29-5%) HP:0000739
8 ventriculomegaly 59 32 Frequent (79-30%) HP:0002119
9 narrow face 59 32 Frequent (79-30%) HP:0000275
10 downslanted palpebral fissures 59 32 Frequent (79-30%) HP:0000494
11 high forehead 59 32 Frequent (79-30%) HP:0000348
12 accelerated skeletal maturation 59 32 Very frequent (99-80%) HP:0005616
13 frontal bossing 59 Occasional (29-5%)
14 high palate 59 Occasional (29-5%)
15 intellectual disability 32 HP:0001249
16 seizures 59 Occasional (29-5%)
17 mandibular prognathia 32 HP:0000303
18 depressed nasal bridge 59 Occasional (29-5%)
19 delayed speech and language development 32 HP:0000750
20 neonatal hypotonia 59 Frequent (79-30%)
21 feeding difficulties in infancy 59 Frequent (79-30%)
22 intellectual disability, mild 59 Occasional (29-5%)
23 intellectual disability, severe 59 Occasional (29-5%)
24 prominent forehead 59 Frequent (79-30%)
25 generalized hypotonia 32 HP:0001290
26 coxa valga 32 HP:0002673
27 everted lower lip vermilion 32 HP:0000232
28 low posterior hairline 59 Frequent (79-30%)
29 slender long bone 59 Frequent (79-30%)
30 migraine 59 Occasional (29-5%)
31 motor delay 32 HP:0001270
32 intellectual disability, moderate 59 Frequent (79-30%)
33 deeply set eye 59 Occasional (29-5%)
34 facial asymmetry 59 Occasional (29-5%)
35 long face 32 HP:0000276
36 pointed chin 59 Occasional (29-5%)
37 tall stature 59 Frequent (79-30%)
38 optic disc pallor 59 Occasional (29-5%)
39 plagiocephaly 59 Occasional (29-5%)
40 advanced eruption of teeth 32 HP:0006288
41 astigmatism 32 HP:0000483
42 hypoplasia of the corpus callosum 59 Frequent (79-30%)
43 cutis marmorata 32 HP:0000965
44 overgrowth 32 HP:0001548
45 long fingers 32 HP:0100807
46 episodic ataxia 59 Occasional (29-5%)
47 optic disc hypoplasia 59 Occasional (29-5%)
48 dilation of lateral ventricles 59 Occasional (29-5%)
49 hypermetropia 32 HP:0000540
50 scaphocephaly 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
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 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 29 NFIX

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

41
Bone, Eye

Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

# Title Authors PMID Year
1
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 8 71
22301465 2012
2
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 8 71
20673863 2010
3
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. 38
29184170 2018
4
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. 38
26927468 2016
5
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. 38
25736188 2015
6
Sotos syndrome 1 and 2. 38
25345081 2014

Variations for Sotos Syndrome 2

ClinVar genetic disease variations for Sotos Syndrome 2:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NFIX NM_002501.4(NFIX): c.73del (p.Ala25fs) deletion Pathogenic rs1135401802 19:13135880-13135880 19:13025066-13025066
2 NFIX NC_000019.9: g.(?_13106632)_(13428155_?)del deletion Pathogenic 19:13106632-13428155 :0-0
3 NFIX NM_002501.4(NFIX): c.358del (p.Leu120fs) deletion Pathogenic rs1555696611 19:13136165-13136165 19:13025351-13025351
4 NFIX NM_002501.4(NFIX): c.568C> T (p.Gln190Ter) single nucleotide variant Pathogenic rs387907253 19:13183869-13183869 19:13073055-13073055
5 NFIX NM_002501.4(NFIX): c.179T> C (p.Leu60Pro) single nucleotide variant Pathogenic rs387907254 19:13135986-13135986 19:13025172-13025172
6 NFIX NM_002501.4(NFIX): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs387907255 19:13136169-13136169 19:13025355-13025355
7 NFIX NM_002501.4(NFIX): c.338_342dup (p.Arg116fs) duplication Pathogenic rs797045056 19:13136145-13136149 19:13025331-13025335
8 NFIX NC_000019.9: g.(?_13186349)_(13189549_?)del deletion Pathogenic 19:13186349-13189549 19:13075535-13078735
9 NFIX NM_002501.4(NFIX): c.136A> T (p.Lys46Ter) single nucleotide variant Pathogenic 19:13135943-13135943 19:13025129-13025129
10 NFIX NC_000019.9: g.(?_13186329)_(13189569_?)dup duplication Pathogenic 19:13186329-13189569 19:13075515-13078755
11 NFIX NM_002501.4(NFIX): c.716C> G (p.Ser239Ter) single nucleotide variant Pathogenic rs587779381 19:13184738-13184738 19:13073924-13073924
12 NFIX NM_002501.4(NFIX): c.303dup (p.Cys102fs) duplication Pathogenic 19:13136110-13136110 19:13025296-13025296
13 NFIX NM_002501.4(NFIX): c.232A> T (p.Lys78Ter) single nucleotide variant Pathogenic 19:13136039-13136039 19:13025225-13025225
14 NFIX NM_002501.4(NFIX): c.43_49dup (p.Glu17fs) duplication Pathogenic 19:13135847-13135848 19:13025036-13025042
15 NFIX NM_002501.4(NFIX): c.955+2T> C single nucleotide variant Likely pathogenic 19:13186487-13186487 19:13075673-13075673
16 NFIX NM_002501.4(NFIX): c.337A> G (p.Lys113Glu) single nucleotide variant Likely pathogenic rs1555696597 19:13136144-13136144 19:13025330-13025330
17 NFIX NM_002501.4(NFIX): c.467G> C (p.Cys156Ser) single nucleotide variant Likely pathogenic rs1555696641 19:13136274-13136274 19:13025460-13025460
18 NFIX NM_002501.4(NFIX): c.787C> T (p.Arg263Trp) single nucleotide variant Uncertain significance 19:13184809-13184809 19:13073995-13073995
19 NFIX NM_002501.4(NFIX): c.988G> A (p.Asp330Asn) single nucleotide variant Uncertain significance 19:13189459-13189459 19:13078645-13078645
20 NFIX NM_002501.4(NFIX): c.143T> C (p.Met48Thr) single nucleotide variant Uncertain significance 19:13135950-13135950 19:13025136-13025136
21 NFIX NM_002501.4(NFIX): c.183G> A (p.Leu61=) single nucleotide variant Likely benign rs369196245 19:13135990-13135990 19:13025176-13025176
22 NFIX NM_002501.4(NFIX): c.1140G> A (p.Ser380=) single nucleotide variant Benign rs201174259 19:13192555-13192555 19:13081741-13081741

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

74
# 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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....