MCID: STS007
MIFTS: 23

Sotos Syndrome 2

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

Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 57 59 75 29 13 6 73
Malan Syndrome 57 75
Sotos2 57 75
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:



Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : 75 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 sotos syndrome 1. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone, 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 sotos syndrome 1 9.8

Symptoms & Phenotypes for Sotos Syndrome 2

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

Human phenotypes related to Sotos Syndrome 2:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 pectus excavatum 32 HP:0000767
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 scoliosis 32 HP:0002650
6 mandibular prognathia 32 HP:0000303
7 delayed speech and language development 32 HP:0000750
8 strabismus 32 HP:0000486
9 coxa valga 32 HP:0002673
10 everted lower lip vermilion 32 HP:0000232
11 anxiety 32 HP:0000739
12 ventriculomegaly 32 HP:0002119
13 narrow face 32 HP:0000275
14 downslanted palpebral fissures 32 HP:0000494
15 narrow mouth 32 HP:0000160
16 long face 32 HP:0000276
17 high forehead 32 HP:0000348
18 advanced eruption of teeth 32 HP:0006288
19 motor delay 32 HP:0001270
20 accelerated skeletal maturation 32 HP:0005616
21 astigmatism 32 HP:0000483
22 cutis marmorata 32 HP:0000965
23 generalized hypotonia 32 HP:0001290
24 overgrowth 32 HP:0001548
25 long fingers 32 HP:0100807
26 hypermetropia 32 HP:0000540

Drugs & Therapeutics for Sotos Syndrome 2

Search Clinical Trials , 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

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

Variations for Sotos Syndrome 2

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

75
# 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 21)
# 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_342dupAGATC (p.Arg116Serfs) duplication Pathogenic rs797045056 GRCh37 Chromosome 19, 13136145: 13136149
12 NFIX NM_002501.3(NFIX): c.338_342dupAGATC (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 GRCh38 Chromosome 19, 13025176: 13025176
14 NFIX NM_001271043.2(NFIX): c.207G> A (p.Leu69=) single nucleotide variant Likely benign rs369196245 GRCh37 Chromosome 19, 13135990: 13135990
15 NFIX NM_002501.3(NFIX): c.73delG (p.Ala25Leufs) deletion Pathogenic rs1135401802 GRCh37 Chromosome 19, 13135880: 13135880
16 NFIX NM_002501.3(NFIX): c.73delG (p.Ala25Leufs) 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 GRCh37 Chromosome 19, 13136274: 13136274
19 NFIX NM_002501.3(NFIX): c.467G> C (p.Cys156Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 13025460: 13025460
20 NFIX NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs) deletion Pathogenic GRCh38 Chromosome 19, 13025351: 13025351
21 NFIX NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs) deletion Pathogenic GRCh37 Chromosome 19, 13136165: 13136165

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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