MRXSSR
MCID: MNT310
MIFTS: 35

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type (MRXSSR)

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

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

Name: Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 57
Mental Retardation, X-Linked, Snyder-Robinson Type 57 13 39 70
Snyder-Robinson Mental Retardation Syndrome 57 72
Mrxssr 57 72
Srs 57 72
X-Linked Syndromic Mental Retardation Snyder-Robinson Type 72
X-Linked Mental Retardation Snyder - Robinson Type 6
Snyder-Robinson Mental Retardation Syndrome; Srs 57
X-Linked Intellectual Disability, Snyder Type 58
Snyder-Robinson Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable phenotype
carrier females are normal

Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked, syndromic, snyder-robinson type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

OMIM® : 57 Snyder-Robinson mental retardation syndrome is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia (summary by Zhang et al., 2013). (309583) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type, also known as mental retardation, x-linked, snyder-robinson type, is related to syndromic x-linked intellectual disability snyder type and silver-russell syndrome 1, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type is SMS (Spermine Synthase). Affiliated tissues include kidney and brain, and related phenotypes are kyphoscoliosis and decreased muscle mass

UniProtKB/Swiss-Prot : 72 X-linked syndromic mental retardation Snyder-Robinson type: Characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive.

Related Diseases for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability snyder 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 trigeminal neuralgia 10.0
31 autism 10.0
32 hemihyperplasia, isolated 10.0
33 allergic rhinitis 10.0
34 silver-russell syndrome 2 10.0
35 spinal disease 10.0
36 disease of mental health 10.0
37 rhinitis 10.0
38 47,xyy 10.0
39 12q14 microdeletion syndrome 10.0
40 sotos syndrome 1 9.9
41 bone mineral density quantitative trait locus 3 9.9
42 temple syndrome 9.9
43 silver-russell syndrome 5 9.9
44 exanthem 9.9
45 paraganglioma 9.9
46 b-lymphoblastic leukemia/lymphoma 9.9
47 sarcoma 9.9
48 arteriovenous malformation 9.9
49 osteopoikilosis 9.9
50 allergic disease 9.9

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
2 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
3 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
4 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
5 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
6 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
7 disproportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0001519
8 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
9 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
10 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
11 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
12 slender toe 58 31 frequent (33%) Frequent (79-30%) HP:0011308
13 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
14 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
15 long toe 58 31 frequent (33%) Frequent (79-30%) HP:0010511
16 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
17 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
18 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
19 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
20 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
21 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
22 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
23 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
26 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
27 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
28 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
29 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
30 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
31 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
32 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
33 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
34 testicular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000029
35 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
36 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
37 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
38 focal motor seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011153
39 patchy hypo- and hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007509
40 difficulty standing 58 31 occasional (7.5%) Occasional (29-5%) HP:0003698
41 unilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007687
42 asymmetry of the ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0010722
43 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
44 megalencephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001355
45 mandibular prognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000303
46 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768
47 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
48 brachycephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000248
49 everted lower lip vermilion 58 31 very rare (1%) Very rare (<4-1%) HP:0000232
50 wide intermamillary distance 58 31 very rare (1%) Very rare (<4-1%) HP:0006610

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypotonia
wide-based gait
mental retardation (males)

Growth Height:
short stature
tall stature

Head And Neck Mouth:
cleft palate
high, narrow palate
bifid uvula
prominent lower lip
small upper lip

Skeletal:
osteoporosis
multiple fractures

Head And Neck Face:
facial asymmetry
short philtrum
prognathism

Head And Neck Eyes:
high myopia
hypertelorism, mild
slanted palpebral fissures

Skeletal Feet:
clubfoot
long halluces

Growth Other:
thin body build

Head And Neck Teeth:
overcrowded teeth

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Muscle Soft Tissue:
decreased muscle mass

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Spine:
kyphoscoliosis

Voice:
nasal speech
dysarthric speech

Chest Breasts:
widely spaced nipples

Head And Neck Neck:
short, webbed neck

Head And Neck Ears:
asymmetric dysplastic ears

Skeletal Hands:
long, thin hands
long, hyperextensible fingers

Clinical features from OMIM®:

309583 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:


seizures

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

40
Kidney, Brain

Publications for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Articles related to Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

(show all 14)
# Title Authors PMID Year
1
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. 57 6
23897707 2013
2
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 57 6
23696453 2013
3
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. 6 57
19206178 2009
4
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. 57 6
18550699 2008
5
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 6 57
14508504 2003
6
Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. 57 6
5823961 1969
7
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
8
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 6
31580924 2020
9
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. 6
26174906 2016
10
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. 6
25888122 2015
11
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 6
22612257 2012
12
The impact of spermine synthase (SMS) mutations on brain morphology. 57
19277733 2009
13
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. 57
8826448 1996
14
Myosin Va and spermine synthase: partners in exosome transport. 61
30967493 2019

Variations for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMS NM_004595.5(SMS):c.329+5G>A SNV Pathogenic 11623 rs397515381 GRCh37: X:21990694-21990694
GRCh38: X:21972576-21972576
2 SMS NM_004595.5(SMS):c.395T>G (p.Val132Gly) SNV Pathogenic 11625 rs267607076 GRCh37: X:21995244-21995244
GRCh38: X:21977126-21977126
3 SMS NM_004595.5(SMS):c.174T>A (p.Phe58Leu) SNV Pathogenic 65676 rs397515549 GRCh37: X:21990018-21990018
GRCh38: X:21971900-21971900
4 SMS NM_004595.5(SMS):c.200G>A (p.Gly67Glu) SNV Pathogenic 65677 rs397515550 GRCh37: X:21990044-21990044
GRCh38: X:21971926-21971926
5 SMS NM_004595.5(SMS):c.443A>G (p.Gln148Arg) SNV Pathogenic 65679 rs397515551 GRCh37: X:21995292-21995292
GRCh38: X:21977174-21977174
6 SMS NM_004595.5(SMS):c.908_911del (p.Met303fs) Deletion Pathogenic 626916 rs1602220706 GRCh37: X:22003302-22003305
GRCh38: X:21985184-21985187
7 SMS NM_004595.5(SMS):c.388C>T (p.Arg130Cys) SNV Pathogenic 816629 rs1602210346 GRCh37: X:21995237-21995237
GRCh38: X:21977119-21977119
8 SMS NM_004595.5(SMS):c.608G>A (p.Gly203Asp) SNV Pathogenic 827761 GRCh37: X:21996180-21996180
GRCh38: X:21978062-21978062
9 SMS NM_004595.5(SMS):c.166G>A (p.Gly56Ser) SNV Pathogenic 11624 rs121434610 GRCh37: X:21985430-21985430
GRCh38: X:21967312-21967312
10 SMS NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) SNV Pathogenic 88767 rs397515553 GRCh37: X:22010752-22010752
GRCh38: X:21992634-21992634
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.1019A>G (p.Glu340Gly) SNV Uncertain significance 1028274 GRCh37: X:22010788-22010788
GRCh38: X:21992670-21992670
16 SMS NM_004595.5(SMS):c.13C>G (p.Arg5Gly) SNV Uncertain significance 915295 GRCh37: X:21958955-21958955
GRCh38: X:21940837-21940837
17 SMS NM_004595.5(SMS):c.799G>A (p.Gly267Arg) SNV Uncertain significance 800832 rs757074790 GRCh37: X:22002470-22002470
GRCh38: X:21984352-21984352
18 SMS NM_004595.5(SMS):c.1026A>C (p.Ser342=) SNV Likely benign 193675 rs61732077 GRCh37: X:22010795-22010795
GRCh38: X:21992677-21992677

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type:

72
# Symbol AA change Variation ID SNP ID
1 SMS p.Phe58Leu VAR_072748 rs397515549
2 SMS p.Gly56Ser VAR_076449 rs121434610
3 SMS p.Gly67Glu VAR_076450 rs397515550
4 SMS p.Val132Gly VAR_076451 rs267607076
5 SMS p.Tyr328Cys VAR_076452 rs397515553

Expression for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Sources for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson 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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