MCID: STS007
MIFTS: 31

Sotos Syndrome 2

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

Aliases & Classifications for Sotos Syndrome 2

MalaCards integrated aliases for Sotos Syndrome 2:

Name: Sotos Syndrome 2 54 24 56 71 29 13 69
Malan Overgrowth Syndrome 56
Malan Syndrome 71
Sotos2 71
Nfix 24

Characteristics:

Orphanet epidemiological data:

56
malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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 overgrowth syndrome, is related to marshall-smith syndrome and sotos syndrome 1, and has symptoms including scoliosis, long face and intellectual disability. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). The drugs Efavirenz and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM: 614753

Related Diseases for Sotos Syndrome 2

Diseases in the Sotos Syndrome 1 family:

Sotos Syndrome 3 Sotos Syndrome 2

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

id Related Disease Score Top Affiliating Genes
1 marshall-smith syndrome 11.9
2 sotos syndrome 1 10.9
3 scoliosis 10.9
4 chiari malformation 9.8
5 colorectal cancer 9.8
6 esophagitis 9.8
7 squamous cell carcinoma 9.8

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



Diseases related to Sotos Syndrome 2

Symptoms & Phenotypes for Sotos Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
mental retardation
speech delay
ventricular dilatation
motor retardation
more
Head And Neck- Head:
high forehead
macrocephaly

Skeletal- Limbs:
coxa valga

Skeletal- Hands:
long fingers

Skeletal:
advanced bone age

Growth- Weight:
birth weight above centile 95

Head And Neck- Teeth:
premature eruption of teeth

Skin Nails & Hair- Skin:
livedo reticularis, generalized

Neurologic- Behavioral Psychiatric Manifestations:
autistic traits
behavioral anomalies

Head And Neck- Eyes:
nystagmus
strabismus
astigmatism
hypermetropia
down-slanting palpebral fissures

Head And Neck- Face:
long face
narrow face

Head And Neck- Mouth:
small mouth
everted lower lip
prognathia

Chest- External Features:
pectus excavatum

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

Growth- Other:
height-weight ratio bellow centile 25

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 7)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 long face 32 HP:0000276
3 intellectual disability 32 HP:0001249
4 narrow face 32 HP:0000275
5 anxiety 32 HP:0000739
6 overgrowth 32 HP:0001548
7 accelerated skeletal maturation 32 HP:0005616

Drugs & Therapeutics for Sotos Syndrome 2

Drugs for Sotos Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
2
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
3
Lopinavir Approved Phase 4 192725-17-0 92727
4
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
5
Zidovudine Approved Phase 4 30516-87-1 35370
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7 Anti-HIV Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antimetabolites Phase 4
10 Anti-Retroviral Agents Phase 4
11 Antiviral Agents Phase 4
12 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
13 Cytochrome P-450 CYP3A Inducers Phase 4
14 Cytochrome P-450 CYP3A Inhibitors Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 HIV Protease Inhibitors Phase 4
17 Nucleic Acid Synthesis Inhibitors Phase 4
18
protease inhibitors Phase 4
19 Reverse Transcriptase Inhibitors Phase 4
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Antipyretics Phase 4
25 Antirheumatic Agents Phase 4
26 Cyclooxygenase Inhibitors Phase 4
27 Fibrinolytic Agents Phase 4
28 Peripheral Nervous System Agents Phase 4
29 Platelet Aggregation Inhibitors Phase 4
30 Antipsychotic Agents Phase 2
31 Central Nervous System Depressants Phase 2
32 Psychotropic Drugs Phase 2
33 Tranquilizing Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
2 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4 aspirin;aspirin
3 A Study of RO4917838 in Combination With Antipsychotic Treatment in Patients With Schizophrenia. Completed NCT00616798 Phase 2 RO4917838;RO4917838;RO4917838;Placebo;Standard antipsychotic therapy
4 Third International Study on Mechanical Ventilation Completed NCT01093482
5 Treatment of Premenstrual Syndrome - Internet-based Self-help Active, not recruiting NCT01961479

Search NIH Clinical Center for Sotos Syndrome 2

Genetic Tests for Sotos Syndrome 2

Genetic tests related to Sotos Syndrome 2:

id Genetic test Affiliating Genes
1 Sotos Syndrome 2 29 24

Anatomical Context for Sotos Syndrome 2

MalaCards organs/tissues related to Sotos Syndrome 2:

39
Bone

Publications for Sotos Syndrome 2

Articles related to Sotos Syndrome 2:

id 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
id 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
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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