MCID: STC008
MIFTS: 10

Stocco Dos Santos Syndrome

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Stocco Dos Santos Syndrome

MalaCards integrated aliases for Stocco Dos Santos Syndrome:

Name: Stocco Dos Santos Syndrome 53 29 6 73
X-Linked Intellectual Disability, Stocco Dos Santos Type 53
Stocco Dos Santos X-Linked Mental Retardation Syndrome 53
Mental Retardation, Stocco Dos Santos Type 53

Classifications:



External Ids:

UMLS 73 C1845530

Summaries for Stocco Dos Santos Syndrome

MalaCards based summary : Stocco Dos Santos Syndrome, also known as x-linked intellectual disability, stocco dos santos type, is related to stocco dos santos x-linked mental retardation syndrome and anophthalmia megalocornea cardiopathy skeletal anomalies. An important gene associated with Stocco Dos Santos Syndrome is SHROOM4 (Shroom Family Member 4).

Related Diseases for Stocco Dos Santos Syndrome

Diseases related to Stocco Dos Santos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stocco dos santos x-linked mental retardation syndrome 11.4
2 anophthalmia megalocornea cardiopathy skeletal anomalies 11.4

Symptoms & Phenotypes for Stocco Dos Santos Syndrome

Drugs & Therapeutics for Stocco Dos Santos Syndrome

Search Clinical Trials , NIH Clinical Center for Stocco Dos Santos Syndrome

Genetic Tests for Stocco Dos Santos Syndrome

Genetic tests related to Stocco Dos Santos Syndrome:

# Genetic test Affiliating Genes
1 Stocco Dos Santos Syndrome 29 SHROOM4

Anatomical Context for Stocco Dos Santos Syndrome

Publications for Stocco Dos Santos Syndrome

Articles related to Stocco Dos Santos Syndrome:

# Title Authors Year
1
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. ( 12673656 )
2003

Variations for Stocco Dos Santos Syndrome

ClinVar genetic disease variations for Stocco Dos Santos Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHROOM4 NM_020717.3(SHROOM4): c.3266C> T (p.Ser1089Leu) single nucleotide variant Pathogenic rs121434620 GRCh37 Chromosome X, 50350876: 50350876
2 SHROOM4 NM_020717.3(SHROOM4): c.3266C> T (p.Ser1089Leu) single nucleotide variant Pathogenic rs121434620 GRCh38 Chromosome X, 50607876: 50607876
3 SHROOM4 NM_020717.3(SHROOM4): c.2192A> G (p.Glu731Gly) single nucleotide variant Benign rs144727288 GRCh38 Chromosome X, 50633881: 50633881
4 SHROOM4 NM_020717.3(SHROOM4): c.2192A> G (p.Glu731Gly) single nucleotide variant Benign rs144727288 GRCh37 Chromosome X, 50376881: 50376881
5 SHROOM4 NM_020717.3(SHROOM4): c.436C> T (p.Arg146Trp) single nucleotide variant Likely benign rs189694750 GRCh37 Chromosome X, 50378637: 50378637
6 SHROOM4 NM_020717.3(SHROOM4): c.436C> T (p.Arg146Trp) single nucleotide variant Likely benign rs189694750 GRCh38 Chromosome X, 50635637: 50635637
7 SHROOM4 NM_020717.3(SHROOM4): c.2165G> A (p.Arg722His) single nucleotide variant Likely benign rs3761506 GRCh37 Chromosome X, 50376908: 50376908
8 SHROOM4 NM_020717.3(SHROOM4): c.2165G> A (p.Arg722His) single nucleotide variant Likely benign rs3761506 GRCh38 Chromosome X, 50633908: 50633908

Expression for Stocco Dos Santos Syndrome

Search GEO for disease gene expression data for Stocco Dos Santos Syndrome.

Pathways for Stocco Dos Santos Syndrome

GO Terms for Stocco Dos Santos Syndrome

Sources for Stocco Dos Santos Syndrome

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
Content
Loading form....