MCID: STC008
MIFTS: 19

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 20 29 6 70
X-Linked Intellectual Disability, Stocco Dos Santos Type 20

Classifications:



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 phenotypes are kyphosis and depressed nasal bridge

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 11.5
2 anophthalmia megalocornea cardiopathy skeletal anomalies 11.5

Symptoms & Phenotypes for Stocco Dos Santos Syndrome

Human phenotypes related to Stocco Dos Santos Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 frequent (33%) HP:0002808
2 depressed nasal bridge 31 frequent (33%) HP:0005280
3 recurrent respiratory infections 31 frequent (33%) HP:0002205
4 short stature 31 frequent (33%) HP:0004322
5 intellectual disability, severe 31 frequent (33%) HP:0010864
6 strabismus 31 frequent (33%) HP:0000486
7 epicanthus 31 frequent (33%) HP:0000286
8 talipes equinovarus 31 frequent (33%) HP:0001762
9 small for gestational age 31 frequent (33%) HP:0001518
10 hirsutism 31 frequent (33%) HP:0001007
11 hyperactivity 31 frequent (33%) HP:0000752
12 congenital bilateral hip dislocation 31 frequent (33%) HP:0008780
13 seizure 31 frequent (33%) HP:0001250
14 cataract 31 occasional (7.5%) HP:0000518
15 absent speech 31 occasional (7.5%) HP:0001344
16 increased serum serotonin 31 occasional (7.5%) HP:0003144

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 PMID Year
1
Identification of novel genetic causes of Rett syndrome-like phenotypes. 6
26740508 2016
2
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. 6
16249884 2006
3
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. 6
12673656 2003

Variations for Stocco Dos Santos Syndrome

ClinVar genetic disease variations for Stocco Dos Santos Syndrome:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHROOM4 NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu) SNV Pathogenic 10795 rs121434620 GRCh37: X:50350876-50350876
GRCh38: X:50607876-50607876
2 SHROOM4 NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) SNV Uncertain significance 417739 rs189694750 GRCh37: X:50378637-50378637
GRCh38: X:50635637-50635637
3 SHROOM4 NM_020717.3(SHROOM4):c.3955G>A (p.Glu1319Lys) SNV Uncertain significance 587460 rs782659789 GRCh37: X:50341523-50341523
GRCh38: X:50598523-50598523
4 SHROOM4 NM_020717.3(SHROOM4):c.2672G>T (p.Ser891Ile) SNV Uncertain significance 634514 rs1569546782 GRCh37: X:50376401-50376401
GRCh38: X:50633401-50633401
5 SHROOM4 NM_020717.3(SHROOM4):c.1996G>A (p.Glu666Lys) SNV Uncertain significance 635462 rs782246021 GRCh37: X:50377077-50377077
GRCh38: X:50634077-50634077
6 SHROOM4 NM_020717.3(SHROOM4):c.3071T>C (p.Leu1024Pro) SNV Uncertain significance 638434 rs1557249087 GRCh37: X:50351071-50351071
GRCh38: X:50608071-50608071
7 SHROOM4 NM_020717.3(SHROOM4):c.2362C>T (p.His788Tyr) SNV Uncertain significance 930331 GRCh37: X:50376711-50376711
GRCh38: X:50633711-50633711
8 SHROOM4 NM_020717.4(SHROOM4):c.3174C>A (p.Phe1058Leu) SNV Uncertain significance 992377 GRCh37: X:50350968-50350968
GRCh38: X:50607968-50607968
9 SHROOM4 NM_020717.4(SHROOM4):c.1165G>T (p.Ala389Ser) SNV Uncertain significance 996862 GRCh37: X:50377908-50377908
GRCh38: X:50634908-50634908
10 SHROOM4 NM_020717.4(SHROOM4):c.1157A>G (p.Glu386Gly) SNV Uncertain significance 1029769 GRCh37: X:50377916-50377916
GRCh38: X:50634916-50634916
11 SHROOM4 NM_020717.4(SHROOM4):c.1589C>T (p.Ser530Phe) SNV Uncertain significance 1029770 GRCh37: X:50377484-50377484
GRCh38: X:50634484-50634484
12 SHROOM4 NM_020717.4(SHROOM4):c.1859T>C (p.Val620Ala) SNV Uncertain significance 1029771 GRCh37: X:50377214-50377214
GRCh38: X:50634214-50634214
13 SHROOM4 NM_020717.4(SHROOM4):c.2519C>T (p.Thr840Ile) SNV Uncertain significance 1029772 GRCh37: X:50376554-50376554
GRCh38: X:50633554-50633554
14 SHROOM4 NM_020717.4(SHROOM4):c.4322G>A (p.Arg1441His) SNV Uncertain significance 1029773 GRCh37: X:50339855-50339855
GRCh38: X:50596855-50596855
15 SHROOM4 NM_020717.4(SHROOM4):c.724C>T (p.Arg242Cys) SNV Uncertain significance 1029774 GRCh37: X:50378349-50378349
GRCh38: X:50635349-50635349
16 SHROOM4 NM_020717.4(SHROOM4):c.775C>A (p.Gln259Lys) SNV Uncertain significance 1029775 GRCh37: X:50378298-50378298
GRCh38: X:50635298-50635298
17 SHROOM4 NM_020717.4(SHROOM4):c.3541G>C (p.Glu1181Gln) SNV Uncertain significance 1033952 GRCh37: X:50350601-50350601
GRCh38: X:50607601-50607601
18 SHROOM4 NM_020717.3(SHROOM4):c.3104A>C (p.Glu1035Ala) SNV Likely benign 425499 rs201467037 GRCh37: X:50351038-50351038
GRCh38: X:50608038-50608038
19 SHROOM4 NM_020717.4(SHROOM4):c.2798G>A (p.Arg933Gln) SNV Likely benign 982951 GRCh37: X:50376275-50376275
GRCh38: X:50633275-50633275
20 SHROOM4 NM_020717.3(SHROOM4):c.2165G>A (p.Arg722His) SNV Likely benign 518420 rs3761506 GRCh37: X:50376908-50376908
GRCh38: X:50633908-50633908
21 SHROOM4 NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) SNV Likely benign 197325 rs144727288 GRCh37: X:50376881-50376881
GRCh38: X:50633881-50633881

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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