SRS
MCID: SYN089
MIFTS: 38

Syndromic X-Linked Intellectual Disability Snyder Type (SRS)

Categories: Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Snyder Type

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Snyder Type:

Name: Syndromic X-Linked Intellectual Disability Snyder Type 12 15
Snyder-Robinson Syndrome 12 24 53 25 37
Spermine Synthase Deficiency 12 24 25
Srs 12 53 25
Mental Retardation, X-Linked, Snyder-Robinson Type 12 73
Snyder Robinson Syndrome 29 6
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 25
Snyder-Robinson X-Linked Mental Retardation Syndrome 25
X-Linked Mental Retardation Snyder-Robinson Type 53
Snyder-Robinson Mental Retardation Syndrome 12
Spermine Synthase 13

Characteristics:

GeneReviews:

24
Penetrance All individuals with snyder-robinson syndrome have deficient spermine synthase enzyme activity. however, as its prevalence in the general population has not been determined, penetrance of deficient spermine synthase activity as snyder-robinson syndrome cannot be stated...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060802
ICD10 33 Q87.8
KEGG 37 H00597
UMLS 73 C0796160

Summaries for Syndromic X-Linked Intellectual Disability Snyder Type

NIH Rare Diseases : 53 Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Snyder Type, also known as snyder-robinson syndrome, is related to silver-russell syndrome and mental retardation, x-linked, syndromic, snyder-robinson type, and has symptoms including seizures An important gene associated with Syndromic X-Linked Intellectual Disability Snyder Type is SMS (Spermine Synthase), and among its related pathways/superpathways are Cysteine and methionine metabolism and Arginine and proline metabolism. Affiliated tissues include bone, lung and brain.

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has material basis in mutation in the SMS gene on chromosome Xp22.

GeneReviews: NBK144284

Related Diseases for Syndromic X-Linked Intellectual Disability Snyder Type

Diseases related to Syndromic X-Linked Intellectual Disability Snyder Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.0
2 mental retardation, x-linked, syndromic, snyder-robinson type 11.5
3 dystonia, dopa-responsive 11.2
4 schilbach-rott syndrome 11.2
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 scoliosis 10.2
7 retinoblastoma 10.2
8 idiopathic scoliosis 10.1
9 rheumatoid arthritis 10.1
10 scoliosis, isolated 1 10.1
11 small cell cancer of the lung 10.1
12 lung cancer 10.1
13 acromegaly 10.1
14 drug-induced lupus erythematosus 10.0 OLR1 SCARB1
15 trigeminal neuralgia 10.0
16 osteoarthritis 10.0
17 ischemia 10.0
18 tropical calcific pancreatitis 9.9
19 hepatitis c virus 9.9
20 arthritis 9.9
21 hepatitis 9.9
22 leukemia 9.9
23 hepatitis c 9.9
24 12q14 microdeletion syndrome 9.9
25 alcohol dependence 9.8
26 arteries, anomalies of 9.8
27 hypertension, essential 9.8
28 tobacco addiction 9.8
29 pancreatic cancer 9.8
30 myocardial infarction 9.8
31 smoking as a quantitative trait locus 3 9.8
32 sclerosing cholangitis, neonatal 9.8
33 brain injury 9.8
34 coronary artery anomaly 9.8
35 pemphigus foliaceus 9.8
36 spinal cord injury 9.8
37 spinal muscular atrophy 9.8
38 traumatic brain injury 9.8
39 paraganglioma 9.8
40 corneal neovascularization 9.8
41 heart disease 9.8
42 malignant hyperthermia 9.8
43 rapidly involuting congenital hemangioma 9.8
44 adamantinoma of long bones 9.7
45 alzheimer disease 9.7
46 atrial standstill 1 9.7
47 breast cancer 9.7
48 cardiac conduction defect 9.7
49 cerebral cavernous malformations 9.7
50 alagille syndrome 1 9.7

Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability Snyder Type:



Diseases related to Syndromic X-Linked Intellectual Disability Snyder Type

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Snyder Type

UMLS symptoms related to Syndromic X-Linked Intellectual Disability Snyder Type:


seizures

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Snyder Type

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability Snyder Type

Genetic Tests for Syndromic X-Linked Intellectual Disability Snyder Type

Genetic tests related to Syndromic X-Linked Intellectual Disability Snyder Type:

# Genetic test Affiliating Genes
1 Snyder Robinson Syndrome 29 SMS

Anatomical Context for Syndromic X-Linked Intellectual Disability Snyder Type

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability Snyder Type:

41
Bone, Lung, Brain, Liver, Heart, Spinal Cord, T Cells

Publications for Syndromic X-Linked Intellectual Disability Snyder Type

Articles related to Syndromic X-Linked Intellectual Disability Snyder Type:

(show all 13)
# Title Authors Year
1
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. ( 29348635 )
2018
2
Snyder-Robinson syndrome. ( 30237987 )
2018
3
Polyamine Homeostasis in Snyder-Robinson Syndrome. ( 30544565 )
2018
4
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. ( 29097652 )
2017
5
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. ( 26761001 )
2016
6
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. ( 25888122 )
2015
7
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. ( 26174906 )
2015
8
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. ( 23897707 )
2013
9
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. ( 23696453 )
2013
10
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). ( 21318891 )
2011
11
Computational analysis of missense mutations causing Snyder-Robinson syndrome. ( 20556796 )
2010
12
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. ( 19206178 )
2009
13
Snyder-Robinson Syndrome ( 23805436 )
1993

Variations for Syndromic X-Linked Intellectual Disability Snyder Type

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability Snyder Type:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMS NM_004595.4(SMS): c.329+5G> A single nucleotide variant Pathogenic rs397515381 GRCh37 Chromosome X, 21990694: 21990694
2 SMS NM_004595.4(SMS): c.329+5G> A single nucleotide variant Pathogenic rs397515381 GRCh38 Chromosome X, 21972576: 21972576
3 SMS NM_004595.4(SMS): c.166G> A (p.Gly56Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121434610 GRCh37 Chromosome X, 21985430: 21985430
4 SMS NM_004595.4(SMS): c.166G> A (p.Gly56Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121434610 GRCh38 Chromosome X, 21967312: 21967312
5 SMS NM_004595.4(SMS): c.395T> G (p.Val132Gly) single nucleotide variant Pathogenic rs267607076 GRCh37 Chromosome X, 21995244: 21995244
6 SMS NM_004595.4(SMS): c.395T> G (p.Val132Gly) single nucleotide variant Pathogenic rs267607076 GRCh38 Chromosome X, 21977126: 21977126
7 SMS NM_004595.4(SMS): c.174T> A (p.Phe58Leu) single nucleotide variant Pathogenic rs397515549 GRCh37 Chromosome X, 21990018: 21990018
8 SMS NM_004595.4(SMS): c.174T> A (p.Phe58Leu) single nucleotide variant Pathogenic rs397515549 GRCh38 Chromosome X, 21971900: 21971900
9 SMS NM_004595.4(SMS): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs397515550 GRCh37 Chromosome X, 21990044: 21990044
10 SMS NM_004595.4(SMS): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs397515550 GRCh38 Chromosome X, 21971926: 21971926
11 SMS NM_004595.4(SMS): c.443A> G (p.Gln148Arg) single nucleotide variant Pathogenic rs397515551 GRCh37 Chromosome X, 21995292: 21995292
12 SMS NM_004595.4(SMS): c.443A> G (p.Gln148Arg) single nucleotide variant Pathogenic rs397515551 GRCh38 Chromosome X, 21977174: 21977174
13 SMS NM_004595.4(SMS): c.449T> C (p.Ile150Thr) single nucleotide variant Pathogenic rs397515552 GRCh37 Chromosome X, 21995298: 21995298
14 SMS NM_004595.4(SMS): c.449T> C (p.Ile150Thr) single nucleotide variant Pathogenic rs397515552 GRCh38 Chromosome X, 21977180: 21977180
15 SMS NM_004595.4(SMS): c.983A> C (p.Tyr328Ser) single nucleotide variant Pathogenic rs397515553 GRCh37 Chromosome X, 22010752: 22010752
16 SMS NM_004595.4(SMS): c.983A> C (p.Tyr328Ser) single nucleotide variant Pathogenic rs397515553 GRCh38 Chromosome X, 21992634: 21992634
17 SMS NM_004595.4(SMS): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs397515553 GRCh37 Chromosome X, 22010752: 22010752
18 SMS NM_004595.4(SMS): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs397515553 GRCh38 Chromosome X, 21992634: 21992634
19 SMS NM_004595.4(SMS): c.1026A> C (p.Ser342=) single nucleotide variant Benign/Likely benign rs61732077 GRCh37 Chromosome X, 22010795: 22010795
20 SMS NM_004595.4(SMS): c.1026A> C (p.Ser342=) single nucleotide variant Benign/Likely benign rs61732077 GRCh38 Chromosome X, 21992677: 21992677

Expression for Syndromic X-Linked Intellectual Disability Snyder Type

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability Snyder Type.

Pathways for Syndromic X-Linked Intellectual Disability Snyder Type

Pathways related to Syndromic X-Linked Intellectual Disability Snyder Type according to KEGG:

37
# Name Kegg Source Accession
1 Cysteine and methionine metabolism hsa00270
2 Arginine and proline metabolism hsa00330
3 beta-Alanine metabolism hsa00410
4 Glutathione metabolism hsa00480

GO Terms for Syndromic X-Linked Intellectual Disability Snyder Type

Cellular components related to Syndromic X-Linked Intellectual Disability Snyder Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.33 COLEC12 SSC5D VIT
2 collagen trimer GO:0005581 9.13 COLEC12 MARCO MSR1
3 endocytic vesicle membrane GO:0030666 9.02 COLEC12 MARCO MSR1 SCARB1 SCARF1

Biological processes related to Syndromic X-Linked Intellectual Disability Snyder Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol transport GO:0030301 9.32 MSR1 SCARB1
2 amyloid-beta clearance GO:0097242 9.26 MARCO MSR1
3 cholesterol catabolic process GO:0006707 9.16 SCARB1 SCARF1
4 receptor-mediated endocytosis GO:0006898 9.1 COLEC12 MARCO MSR1 SCARB1 SCARF1 SSC5D
5 positive regulation of cholesterol storage GO:0010886 8.96 MSR1 SCARB1

Molecular functions related to Syndromic X-Linked Intellectual Disability Snyder Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.33 MARCO MSR1 SCARB1
2 1-phosphatidylinositol binding GO:0005545 9.32 SCARB1 ZFYVE1
3 signaling pattern recognition receptor activity GO:0008329 9.26 COLEC12 MARCO
4 low-density lipoprotein particle binding GO:0030169 9.26 COLEC12 MSR1 SCARB1 SCARF1
5 scavenger receptor activity GO:0005044 9.1 COLEC12 MARCO MSR1 SCARB1 SCARF1 SSC5D

Sources for Syndromic X-Linked Intellectual Disability Snyder Type

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
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