MCID: STC008
MIFTS: 8

Stocco Dos Santos Syndrome

Categories: Rare diseases

Aliases & Classifications for Stocco Dos Santos Syndrome

MalaCards integrated aliases for Stocco Dos Santos Syndrome:

Name: Stocco Dos Santos Syndrome 54 30 6 74
X-Linked Intellectual Disability, Stocco Dos Santos Type 54

Classifications:



External Ids:

UMLS 74 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 11.6
2 anophthalmia megalocornea cardiopathy skeletal anomalies 11.6

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 30 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
Identification of novel genetic causes of Rett syndrome-like phenotypes. ( 26740508 )
2016
2
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. ( 16249884 )
2006
3
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 GRCh37 Chromosome X, 50376881: 50376881
4 SHROOM4 NM_020717.3(SHROOM4): c.2192A> G (p.Glu731Gly) single nucleotide variant Benign rs144727288 GRCh38 Chromosome X, 50633881: 50633881
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
9 SHROOM4 NM_020717.3(SHROOM4): c.3955G> A (p.Glu1319Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 50341523: 50341523
10 SHROOM4 NM_020717.3(SHROOM4): c.3955G> A (p.Glu1319Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 50598523: 50598523

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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