SOTOS3
MCID: STS009
MIFTS: 19

Sotos Syndrome 3 (SOTOS3)

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

Aliases & Classifications for Sotos Syndrome 3

MalaCards integrated aliases for Sotos Syndrome 3:

Name: Sotos Syndrome 3 57 75 29 6
Sotos3 57 75
Sotos Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
two sibs born of consanguineous egyptian parents have been reported (last curated october 2016)


HPO:

32
sotos syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sotos Syndrome 3

UniProtKB/Swiss-Prot : 75 Sotos syndrome 3: 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. SOTOS3 patients do not have advanced bone age, hypotonia, seizures, or autism. SOTOS3 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Sotos Syndrome 3, is also known as sotos3. An important gene associated with Sotos Syndrome 3 is APC2 (APC2, WNT Signaling Pathway Regulator). Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and mandibular prognathia

Description from OMIM: 617169

Related Diseases for Sotos Syndrome 3

Diseases in the Sotos Syndrome 1 family:

Sotos Syndrome 2 Sotos Syndrome 3

Symptoms & Phenotypes for Sotos Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
poor speech
learning difficulties
dilated lateral ventricles

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Head And Neck Head:
relative macrocephaly

Head And Neck Face:
long face
prominent chin

Head And Neck Nose:
prominent nose


Clinical features from OMIM:

617169

Human phenotypes related to Sotos Syndrome 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 mandibular prognathia 32 HP:0000303
3 long face 32 HP:0000276
4 hyperactivity 32 HP:0000752
5 prominent nose 32 HP:0000448
6 relative macrocephaly 32 HP:0004482
7 poor speech 32 HP:0002465

Drugs & Therapeutics for Sotos Syndrome 3

Search Clinical Trials , NIH Clinical Center for Sotos Syndrome 3

Genetic Tests for Sotos Syndrome 3

Genetic tests related to Sotos Syndrome 3:

# Genetic test Affiliating Genes
1 Sotos Syndrome 3 29 APC2

Anatomical Context for Sotos Syndrome 3

MalaCards organs/tissues related to Sotos Syndrome 3:

41
Bone, Eye

Publications for Sotos Syndrome 3

Variations for Sotos Syndrome 3

ClinVar genetic disease variations for Sotos Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APC2 NM_005883.2(APC2): c.5199dupC (p.Lys1734Glnfs) duplication Pathogenic rs886040957 GRCh37 Chromosome 19, 1468499: 1468499
2 APC2 NM_005883.2(APC2): c.5199dupC (p.Lys1734Glnfs) duplication Pathogenic rs886040957 GRCh38 Chromosome 19, 1468500: 1468500

Expression for Sotos Syndrome 3

Search GEO for disease gene expression data for Sotos Syndrome 3.

Pathways for Sotos Syndrome 3

GO Terms for Sotos Syndrome 3

Sources for Sotos Syndrome 3

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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