MCID: STS007
MIFTS: 24

Sotos Syndrome 2

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

Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 53 55 71 28 13 69
Malan Syndrome 53 71
Sotos2 53 71
Malan Overgrowth Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
sotos syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sotos Syndrome 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including macrocephaly, pectus excavatum and nystagmus. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone.

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:

53
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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 pectus excavatum 31 HP:0000767
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 scoliosis 31 HP:0002650
6 mandibular prognathia 31 HP:0000303
7 delayed speech and language development 31 HP:0000750
8 strabismus 31 HP:0000486
9 coxa valga 31 HP:0002673
10 everted lower lip vermilion 31 HP:0000232
11 anxiety 31 HP:0000739
12 ventriculomegaly 31 HP:0002119
13 narrow face 31 HP:0000275
14 downslanted palpebral fissures 31 HP:0000494
15 narrow mouth 31 HP:0000160
16 long face 31 HP:0000276
17 high forehead 31 HP:0000348
18 advanced eruption of teeth 31 HP:0006288
19 motor delay 31 HP:0001270
20 accelerated skeletal maturation 31 HP:0005616
21 astigmatism 31 HP:0000483
22 cutis marmorata 31 HP:0000965
23 generalized hypotonia 31 HP:0001290
24 overgrowth 31 HP:0001548
25 long fingers 31 HP:0100807
26 hypermetropia 31 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 28 NFIX

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

38
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:

71
# 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
# 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.179T> C (p.Leu60Pro) single nucleotide variant Pathogenic rs387907254 GRCh37 Chromosome 19, 13135986: 13135986
3 NFIX NM_002501.3(NFIX): c.362G> C (p.Arg121Pro) single nucleotide variant Pathogenic rs387907255 GRCh37 Chromosome 19, 13136169: 13136169
4 NFIX NM_002501.3(NFIX): c.716C> G (p.Ser239Ter) single nucleotide variant Pathogenic rs587779381 GRCh37 Chromosome 19, 13184738: 13184738
5 NFIX NM_002501.3(NFIX): c.338_342dupAGATC (p.Arg116Serfs) duplication Pathogenic rs797045056 GRCh37 Chromosome 19, 13136145: 13136149
6 NFIX NM_002501.3(NFIX): c.73delG (p.Ala25Leufs) deletion Pathogenic rs1135401802 GRCh37 Chromosome 19, 13135880: 13135880
7 NFIX NC_000019.9: g.(?_13106632)_(13428155_?)del deletion Pathogenic GRCh37 Chromosome 19, 13106632: 13428155

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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