SOTOS3
MCID: STS009
MIFTS: 20

Sotos Syndrome 3 (SOTOS3)

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

Aliases & Classifications for Sotos Syndrome 3

MalaCards integrated aliases for Sotos Syndrome 3:

Name: Sotos Syndrome 3 57 12 72 29 6
Sotos3 57 12 72
Sotos Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
sotos syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112104
OMIM® 57 617169
OMIM Phenotypic Series 57 PS117550
MeSH 44 D058495

Summaries for Sotos Syndrome 3

UniProtKB/Swiss-Prot : 72 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 (APC Regulator Of WNT Signaling Pathway 2). Related phenotypes are intellectual disability and mandibular prognathia

Disease Ontology : 12 A Sotos syndrome that has material basis in homozygous mutation in APC2 on chromosome 19p13.3.

More information from OMIM: 617169 PS117550

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

Human phenotypes related to Sotos Syndrome 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 mandibular prognathia 31 HP:0000303
3 long face 31 HP:0000276
4 prominent nose 31 HP:0000448
5 relative macrocephaly 31 HP:0004482
6 hyperactivity 31 HP:0000752
7 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
poor speech
learning difficulties
dilated lateral ventricles

Head And Neck Nose:
prominent nose

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Head And Neck Face:
long face
prominent chin

Head And Neck Head:
relative macrocephaly

Clinical features from OMIM®:

617169 (Updated 05-Apr-2021)

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

Publications for Sotos Syndrome 3

Articles related to Sotos Syndrome 3:

# Title Authors PMID Year
1
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. 57 6
25753423 2015

Variations for Sotos Syndrome 3

ClinVar genetic disease variations for Sotos Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC2 NM_005883.2(APC2):c.5199dup (p.Lys1734fs) Duplication Pathogenic 267259 rs886040957 GRCh37: 19:1468493-1468494
GRCh38: 19:1468494-1468495
2 APC2 NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) SNV Uncertain significance 1028956 GRCh37: 19:1467916-1467916
GRCh38: 19:1467917-1467917
3 APC2 NM_005883.3(APC2):c.583C>T (p.Arg195Cys) SNV Uncertain significance 1028957 GRCh37: 19:1455443-1455443
GRCh38: 19:1455444-1455444
4 APC2 NM_005883.3(APC2):c.5772G>C (p.Gln1924His) SNV Uncertain significance 1033035 GRCh37: 19:1469072-1469072
GRCh38: 19:1469073-1469073
5 APC2 NM_005883.3(APC2):c.6111C>T (p.Phe2037=) SNV Uncertain significance 1033036 GRCh37: 19:1469411-1469411
GRCh38: 19:1469412-1469412
6 APC2 NM_005883.3(APC2):c.757C>T (p.Pro253Ser) SNV Uncertain significance 1033037 GRCh37: 19:1456344-1456344
GRCh38: 19:1456345-1456345
7 APC2 NM_005883.3(APC2):c.796C>A (p.Pro266Thr) SNV Uncertain significance 1033038 GRCh37: 19:1456383-1456383
GRCh38: 19:1456384-1456384
8 APC2 NM_005883.2(APC2):c.5108C>A (p.Ala1703Glu) SNV Uncertain significance 493243 rs200444154 GRCh37: 19:1468408-1468408
GRCh38: 19:1468409-1468409

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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