MCID: STC002
MIFTS: 21

Stocco Dos Santos X-Linked Mental Retardation Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Stocco Dos Santos X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Stocco Dos Santos X-Linked Mental Retardation Syndrome:

Name: Stocco Dos Santos X-Linked Mental Retardation Syndrome 57 75 37 13 40
Sdsx 57 75
Mental Retardation, X-Linked, Syndromic, Stocco Dos Santos Type 75
X-Linked Intellectual Disability, Stocco Dos Santos Type 59
Mental Retardation, X-Linked, Stocco Dos Santos Type 57
Intellectual Deficit X-Linked Stocco Dos Santos Type 75
Mental Retardation X-Linked Stocco Dos Santos Type 75
Stocco Dos Santos Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, stocco dos santos type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
variable features
one family and 1 unrelated patient have been reported (last curated april 2017)

Inheritance:
x-linked


HPO:

32
stocco dos santos x-linked mental retardation syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Stocco Dos Santos X-Linked Mental Retardation Syndrome

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, Stocco dos Santos type: A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.

MalaCards based summary : Stocco Dos Santos X-Linked Mental Retardation Syndrome, also known as sdsx, is related to stocco dos santos syndrome. An important gene associated with Stocco Dos Santos X-Linked Mental Retardation Syndrome is SHROOM4 (Shroom Family Member 4). Related phenotypes are hypertelorism and seizures

Description from OMIM: 300434

Related Diseases for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Diseases related to Stocco Dos Santos X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stocco dos santos syndrome 11.9

Symptoms & Phenotypes for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds

Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Head And Neck Mouth:
bruxism

Skeletal Hands:
small hands
cold hands

Skeletal Pelvis:
bilateral hip luxation

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
poor or absent speech
dyspraxic gait
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
flat nasal bridge

Skeletal Feet:
club feet
small feet
cold feet


Clinical features from OMIM:

300434

Human phenotypes related to Stocco Dos Santos X-Linked Mental Retardation Syndrome:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 seizures 32 occasional (7.5%) HP:0001250
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 gastroesophageal reflux 32 HP:0002020
10 strabismus 32 HP:0000486
11 epicanthus 32 HP:0000286
12 short foot 32 HP:0001773
13 hip dislocation 32 HP:0002827
14 small hand 32 HP:0200055
15 talipes equinovarus 32 HP:0001762
16 intellectual disability, profound 32 HP:0002187
17 hyperactivity 32 HP:0000752
18 hirsutism 32 HP:0001007
19 bruxism 32 HP:0003763

Drugs & Therapeutics for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Genetic Tests for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Anatomical Context for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Publications for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Articles related to Stocco Dos Santos X-Linked Mental Retardation 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 X-Linked Mental Retardation Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Stocco Dos Santos X-Linked Mental Retardation Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 SHROOM4 p.Ser1089Leu VAR_032258 rs121434620

ClinVar genetic disease variations for Stocco Dos Santos X-Linked Mental Retardation 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 X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Stocco Dos Santos X-Linked Mental Retardation Syndrome.

Pathways for Stocco Dos Santos X-Linked Mental Retardation Syndrome

GO Terms for Stocco Dos Santos X-Linked Mental Retardation Syndrome

Sources for Stocco Dos Santos X-Linked Mental Retardation 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
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44 MeSH
45 MESH via Orphanet
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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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