MCID: MNT310
MIFTS: 27

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

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental 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 40 73
Snyder-Robinson Mental Retardation Syndrome 57 75
Mrxssr 57 75
Srs 57 75
X-Linked Syndromic Mental Retardation Snyder-Robinson Type 75
Snyder-Robinson Mental Retardation Syndrome; Srs 57
X-Linked Intellectual Disability, Snyder Type 59
Snyder-Robinson Syndrome 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Miscellaneous:
variable phenotype
carrier females are normal

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, syndromic, snyder-robinson type:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
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)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type, also known as mental retardation, x-linked, snyder-robinson type, is related to silver-russell syndrome and syndromic x-linked intellectual disability snyder type, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type is SMS (Spermine Synthase). Related phenotypes are cryptorchidism and tall stature

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 11.9
2 syndromic x-linked intellectual disability snyder type 11.5

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

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Growth Height:
short stature
tall stature

Muscle Soft Tissue:
decreased muscle mass

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Voice:
nasal speech
dysarthric speech

Skeletal Feet:
clubfoot
long halluces

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

Growth Other:
thin body build

Head And Neck Teeth:
overcrowded teeth

Neurologic Central Nervous System:
seizures
hypotonia
wide-based gait
mental retardation (males)

Skeletal:
osteoporosis
multiple fractures

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

Head And Neck Face:
short philtrum
facial asymmetry
prognathism

Skeletal Spine:
kyphoscoliosis

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

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

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 tall stature 32 HP:0000098
3 cleft palate 32 HP:0000175
4 thick lower lip vermilion 32 HP:0000179
5 bifid uvula 32 HP:0000193
6 mandibular prognathia 32 HP:0000303
7 hypertelorism 32 HP:0000316
8 short philtrum 32 HP:0000322
9 facial asymmetry 32 HP:0000324
10 abnormality of the pinna 32 HP:0000377
11 webbed neck 32 HP:0000465
12 dental crowding 32 HP:0000678
13 pectus excavatum 32 HP:0000767
14 pectus carinatum 32 HP:0000768
15 osteoporosis 32 HP:0000939
16 hyperextensibility of the finger joints 32 HP:0001187
17 intellectual disability 32 HP:0001249
18 seizures 32 HP:0001250
19 muscular hypotonia 32 HP:0001252
20 dysarthria 32 HP:0001260
21 generalized hypotonia 32 HP:0001290
22 nasal speech 32 HP:0001611
23 talipes equinovarus 32 HP:0001762
24 long hallux 32 HP:0001847
25 broad-based gait 32 HP:0002136
26 high, narrow palate 32 HP:0002705
27 kyphoscoliosis 32 HP:0002751
28 recurrent fractures 32 HP:0002757
29 decreased muscle mass 32 HP:0003199
30 narrow palm 32 HP:0004283
31 short stature 32 HP:0004322
32 wide intermamillary distance 32 HP:0006610
33 high myopia 32 HP:0011003
34 long palm 32 HP:0011302
35 long fingers 32 HP:0100807

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

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

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

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

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

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

75
# 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

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

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