SRS
MCID: SYN089
MIFTS: 34

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 29 6 15
Snyder-Robinson Syndrome 12 73 25 20 43 36
Spermine Synthase Deficiency 12 25 43
Srs 12 20 43
Mental Retardation, X-Linked, Snyder-Robinson Type 12 70
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 43
Snyder-Robinson X-Linked Mental Retardation Syndrome 43
Snyder-Robinson Mental Retardation Syndrome 12

Characteristics:

GeneReviews:

25
Penetrance All individuals with srs 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 srs cannot be stated....

Classifications:



External Ids:

Disease Ontology 12 DOID:0060802
KEGG 36 H00597
ICD10 32 Q87.8
UMLS 70 C0796160

Summaries for Syndromic X-Linked Intellectual Disability Snyder Type

MedlinePlus Genetics : 43 Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. The intellectual disability can range from mild to profound. Speech often develops late, and speech difficulties are common. Some affected individuals never develop any speech.Most affected males are thin and have low muscle mass, a body type described as an asthenic habitus. Weakness or "floppiness" (hypotonia) typically becomes apparent in infancy, and the loss of muscle tissue continues with age. People with this condition often have difficulty walking; most have an unsteady gait.Snyder-Robinson syndrome causes skeletal problems, particularly thinning of the bones (osteoporosis) that starts in early childhood. Osteoporosis causes the bones to be brittle and to break easily, often during normal activities. In people with Snyder-Robinson syndrome, broken bones occur most often in the arms and legs. Most affected individuals also develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Affected individuals tend to be shorter than their peers and others in their family.Snyder-Robinson syndrome is associated with distinctive facial features, including a prominent lower lip; a high, narrow roof of the mouth or an opening in the roof of the mouth (a cleft palate); and differences in the size and shape of the right and left sides of the face (facial asymmetry). Other signs and symptoms that have been reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Snyder Type, also known as snyder-robinson syndrome, is related to mental retardation, x-linked, syndromic, snyder-robinson type and silver-russell syndrome 1, 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.

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.

GARD : 20 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 S MS gene and is inherited in an X-linked recessive fashion.

KEGG : 36 Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.

Wikipedia : 73 Snyder-Robinson syndrome (SRS) is an extremely rare inherited genetic disorder characterized by muscular... more...

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 118)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, snyder-robinson type 11.6
2 silver-russell syndrome 1 11.5
3 schilbach-rott syndrome 11.2
4 scoliosis 10.8
5 idiopathic scoliosis 10.7
6 alacrima, achalasia, and mental retardation syndrome 10.7
7 scoliosis, isolated 1 10.6
8 diencephalic syndrome 10.4
9 small cell cancer of the lung 10.3
10 hypotonia 10.3
11 autism spectrum disorder 10.3
12 lung cancer 10.2
13 uniparental disomy of chromosome 7 10.2
14 maternal uniparental disomy 10.2
15 beckwith-wiedemann syndrome 10.2
16 spondylolisthesis 10.2
17 melanoma 10.2
18 cleft palate, isolated 10.2
19 osteoporosis 10.2
20 bone mineral density quantitative trait locus 8 10.2
21 bone mineral density quantitative trait locus 15 10.2
22 syndromic intellectual disability 10.2
23 nephrocalcinosis 10.2
24 exocrine pancreatic insufficiency 10.2
25 cholestasis 10.2
26 hypoglycemia 10.2
27 hypertonia 10.2
28 myoclonus 10.2
29 back pain 10.1
30 branchiootic syndrome 1 10.0
31 secondary progressive multiple sclerosis 10.0
32 trigeminal neuralgia 10.0
33 autism 10.0
34 hemihyperplasia, isolated 10.0
35 allergic rhinitis 10.0
36 silver-russell syndrome 2 10.0
37 spinal disease 10.0
38 disease of mental health 10.0
39 rhinitis 10.0
40 47,xyy 10.0
41 12q14 microdeletion syndrome 10.0
42 sleeping sickness 9.9 SRM ODC1 AMD1
43 sotos syndrome 1 9.9
44 bone mineral density quantitative trait locus 3 9.9
45 temple syndrome 9.9
46 silver-russell syndrome 5 9.9
47 exanthem 9.9
48 paraganglioma 9.9
49 b-lymphoblastic leukemia/lymphoma 9.9
50 sarcoma 9.9

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 Syndromic X-Linked Intellectual Disability Snyder Type 29 SMS

Anatomical Context for Syndromic X-Linked Intellectual Disability Snyder Type

Publications for Syndromic X-Linked Intellectual Disability Snyder Type

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

(show all 43)
# Title Authors PMID Year
1
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 61 6 25
31580924 2020
2
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. 6 25 61
26174906 2016
3
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. 6 25 61
25888122 2015
4
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. 61 6 25
23897707 2013
5
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 61 6 25
23696453 2013
6
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. 61 6 25
19206178 2009
7
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. 61 6 25
18550699 2008
8
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 25 61 6
14508504 2003
9
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 25 6
22612257 2012
10
Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. 25 6
5823961 1969
11
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
12
Polyamine Homeostasis in Snyder-Robinson Syndrome. 61 25
30544565 2018
13
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. 25
20808325 2011
14
A highly annotated whole-genome sequence of a Korean individual. 25
19587683 2009
15
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 25
19344873 2009
16
An initial map of insertion and deletion (INDEL) variation in the human genome. 25
16902084 2006
17
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. 25
8826448 1996
18
Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. 25
758422 1979
19
Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype. 61
33186760 2021
20
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. 61
32838743 2020
21
(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome. 61
31996374 2020
22
Author Correction: Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis. 61
31811211 2019
23
Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis. 61
31659216 2019
24
Snyder-Robinson syndrome. 61
30237987 2018
25
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. 61
29348635 2018
26
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. 61
29097652 2017
27
Functions of Polyamines in Mammals. 61
27268251 2016
28
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. 61
26761001 2016
29
Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. 61
25340632 2014
30
The function of spermine. 61
24395705 2014
31
A rational free energy-based approach to understanding and targeting disease-causing missense mutations. 61
23408511 2013
32
Snyder-Robinson Syndrome 61
23805436 2013
33
Enhancing human spermine synthase activity by engineered mutations. 61
23468611 2013
34
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. 61
21219895 2011
35
Use of (Gyro) Gy and spermine synthase transgenic mice to study functions of spermine. 61
21318872 2011
36
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). 61
21318891 2011
37
In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. 61
21647366 2011
38
Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine. 61
20950271 2011
39
Computational analysis of missense mutations causing Snyder-Robinson syndrome. 61
20556796 2010
40
Spermine synthase. 61
19859664 2010
41
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61
19842190 2009
42
The impact of spermine synthase (SMS) mutations on brain morphology. 61
19277733 2009
43
Aminopropyltransferases: function, structure and genetics. 61
16428313 2006

Variations for Syndromic X-Linked Intellectual Disability Snyder Type

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMS NM_004595.5(SMS):c.174T>A (p.Phe58Leu) SNV Pathogenic 65676 rs397515549 GRCh37: X:21990018-21990018
GRCh38: X:21971900-21971900
2 SMS NM_004595.5(SMS):c.200G>A (p.Gly67Glu) SNV Pathogenic 65677 rs397515550 GRCh37: X:21990044-21990044
GRCh38: X:21971926-21971926
3 SMS NM_004595.5(SMS):c.443A>G (p.Gln148Arg) SNV Pathogenic 65679 rs397515551 GRCh37: X:21995292-21995292
GRCh38: X:21977174-21977174
4 SMS NM_004595.5(SMS):c.908_911del (p.Met303fs) Deletion Pathogenic 626916 rs1602220706 GRCh37: X:22003302-22003305
GRCh38: X:21985184-21985187
5 SMS NM_004595.5(SMS):c.388C>T (p.Arg130Cys) SNV Pathogenic 816629 rs1602210346 GRCh37: X:21995237-21995237
GRCh38: X:21977119-21977119
6 SMS NM_004595.5(SMS):c.608G>A (p.Gly203Asp) SNV Pathogenic 827761 GRCh37: X:21996180-21996180
GRCh38: X:21978062-21978062
7 SMS NM_004595.5(SMS):c.166G>A (p.Gly56Ser) SNV Pathogenic 11624 rs121434610 GRCh37: X:21985430-21985430
GRCh38: X:21967312-21967312
8 SMS NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) SNV Pathogenic 88767 rs397515553 GRCh37: X:22010752-22010752
GRCh38: X:21992634-21992634
9 SMS NM_004595.5(SMS):c.395T>G (p.Val132Gly) SNV Pathogenic 11625 rs267607076 GRCh37: X:21995244-21995244
GRCh38: X:21977126-21977126
10 SMS NM_004595.5(SMS):c.329+5G>A SNV Pathogenic 11623 rs397515381 GRCh37: X:21990694-21990694
GRCh38: X:21972576-21972576
11 SMS NM_004595.5(SMS):c.328C>G (p.Arg110Gly) SNV Likely pathogenic 973506 GRCh37: X:21990688-21990688
GRCh38: X:21972570-21972570
12 SMS NM_004595.5(SMS):c.587T>C (p.Ile196Thr) SNV Likely pathogenic 981630 GRCh37: X:21996159-21996159
GRCh38: X:21978041-21978041
13 SMS NM_004595.5(SMS):c.410A>G (p.Asp137Gly) SNV Likely pathogenic 916028 GRCh37: X:21995259-21995259
GRCh38: X:21977141-21977141
14 SMS NM_004595.5(SMS):c.872C>A (p.Thr291Lys) SNV Uncertain significance 931419 GRCh37: X:22003268-22003268
GRCh38: X:21985150-21985150
15 SMS NM_004595.5(SMS):c.799G>A (p.Gly267Arg) SNV Uncertain significance 800832 rs757074790 GRCh37: X:22002470-22002470
GRCh38: X:21984352-21984352
16 SMS NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) SNV Uncertain significance 1028274 GRCh37: X:22010788-22010788
GRCh38: X:21992670-21992670
17 SMS NM_004595.5(SMS):c.13C>G (p.Arg5Gly) SNV Uncertain significance 915295 GRCh37: X:21958955-21958955
GRCh38: X:21940837-21940837
18 SMS NM_004595.5(SMS):c.1026A>C (p.Ser342=) SNV Likely benign 193675 rs61732077 GRCh37: X:22010795-22010795
GRCh38: 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:

36
# 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 cytosol GO:0005829 9.4 SRR SRM SMS SMOX SAT1 ODC1

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 polyamine metabolic process GO:0006595 9.35 SRM SMS SAT1 ODC1 AMD1
2 spermidine biosynthetic process GO:0008295 9.32 SRM AMD1
3 polyamine catabolic process GO:0006598 9.26 SMOX SAT1
4 spermine biosynthetic process GO:0006597 9.16 SMS AMD1
5 polyamine biosynthetic process GO:0006596 9.1 SRM SMS SMOX SAT1 ODC1 AMD1

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 lyase activity GO:0016829 9.13 SRR ODC1 AMD1
2 carboxy-lyase activity GO:0016831 8.62 ODC1 AMD1

Sources for Syndromic X-Linked Intellectual Disability Snyder Type

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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