SDSX
MCID: STC002
MIFTS: 27

Stocco Dos Santos X-Linked Mental Retardation Syndrome (SDSX)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 12 72 36 13 39
Sdsx 57 12 72
Mental Retardation, X-Linked, Stocco Dos Santos Type 57 6
Mental Retardation, X-Linked, Syndromic, Stocco Dos Santos Type 72
X-Linked Intellectual Disability, Stocco Dos Santos Type 58
Stocco Dos Santos Type X-Linked Intellectual Disability 12
Intellectual Deficit X-Linked Stocco Dos Santos Type 72
Mental Retardation X-Linked Stocco Dos Santos Type 72
Stocco Dos Santos Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, stocco dos santos type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable features
one family and 1 unrelated patient have been reported (last curated april 2017)

Inheritance:
x-linked


HPO:

31
stocco dos santos x-linked mental retardation syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Stocco Dos Santos X-Linked Mental Retardation Syndrome

KEGG : 36 Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease.

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

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has material basis in mutation in SHROOM4 on chromosome Xp11.22.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 300434 PS309510

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 10.5
2 disease by infectious agent 10.0

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

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

31 58 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 kyphosis 58 31 Frequent (79-30%) HP:0002808
3 depressed nasal bridge 58 31 Frequent (79-30%) HP:0005280
4 short stature 58 31 Frequent (79-30%) HP:0004322
5 strabismus 58 31 Frequent (79-30%) HP:0000486
6 absent speech 58 31 Occasional (29-5%) HP:0001344
7 epicanthus 58 31 Frequent (79-30%) HP:0000286
8 talipes equinovarus 58 31 Frequent (79-30%) HP:0001762
9 hirsutism 58 31 Frequent (79-30%) HP:0001007
10 hyperactivity 58 31 Frequent (79-30%) HP:0000752
11 seizures 58 Frequent (79-30%)
12 scoliosis 31 HP:0002650
13 cataract 58 Occasional (29-5%)
14 global developmental delay 31 HP:0001263
15 hypertelorism 31 HP:0000316
16 recurrent respiratory infections 58 Frequent (79-30%)
17 delayed speech and language development 58 Frequent (79-30%)
18 microcephaly 31 HP:0000252
19 gastroesophageal reflux 31 HP:0002020
20 intellectual disability, severe 58 Frequent (79-30%)
21 hip dislocation 31 HP:0002827
22 small hand 31 HP:0200055
23 short foot 31 HP:0001773
24 intellectual disability, profound 31 HP:0002187
25 small for gestational age 58 Frequent (79-30%)
26 congenital bilateral hip dislocation 58 Frequent (79-30%)
27 bruxism 31 HP:0003763
28 increased serum serotonin 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
delayed psychomotor development
poor or absent speech
dyspraxic gait
more
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds

Growth Height:
short stature

Skin Nails Hair Hair:
hirsutism

Head And Neck Mouth:
bruxism

Skeletal Feet:
club feet
small feet
cold feet

Skeletal Pelvis:
bilateral hip luxation

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Head And Neck Nose:
flat nasal bridge

Skeletal Hands:
small hands
cold hands

Clinical features from OMIM®:

300434 (Updated 05-Apr-2021)

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 PMID Year
1
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. 61 57 6
12673656 2003
2
Identification of novel genetic causes of Rett syndrome-like phenotypes. 57 6
26740508 2016
3
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. 6 57
16249884 2006
4
Pathogenicity and Molecular Typing of Fowl Adenovirus-Associated With Hepatitis/Hydropericardium Syndrome in Central China (2015-2018). 61
32411734 2020
5
Pathogenic, Phylogenetic, and Serological Analysis of Group I Fowl Adenovirus Serotype 4 SDSX Isolated From Shandong, China. 61
30510548 2018
6
Hydropericardium Hepatitis Syndrome Emerged in Cherry Valley Ducks in China. 61
27041687 2017

Variations for Stocco Dos Santos X-Linked Mental Retardation Syndrome

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

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

72
# Symbol AA change Variation ID SNP ID
1 SHROOM4 p.Ser1089Leu VAR_032258 rs121434620

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 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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