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MCID: SMT008
MIFTS: 53

Smith-Magenis Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Smith-Magenis Syndrome

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MalaCards integrated aliases for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 57 12 24 53 25 59 75 37 29 13 55 6 15 73
Sms 57 53 25 75
Chromosome 17p11.2 Deletion Syndrome 57 12 53
Chromosome 17p Deletion Syndrome 25 73
17p11.2 Microdeletion Syndrome 12 59
17p11.2 Monosomy 25 73
Syndrome, Smith-Magenis 40
Smith Magenis Syndrome 76
Deletion 17p Syndrome 25
Partial Monosomy 17p 25
17p- Syndrome 25
P11.2 24
Del 24
17 24

Characteristics:

Orphanet epidemiological data:

59
smith-magenis syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
most cases result from de novo mutation or deletion of rai1


HPO:

32
smith-magenis syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Smith-Magenis Syndrome

About this section
NIH Rare Diseases : 53 Smith-Magenis syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with SMS have a deletion of genetic material in each cell from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, is responsible for most of the features of the condition. In most of these cases, the deletion is not inherited, occurring randomly during the formation of eggs or sperm, or in early fetal development. In rare cases, the deletion is due to a chromosomal balanced translocation in one of the parents. In about 10% of cases, SMS is caused by a mutation in the RAI1 gene. These mutations may occur randomly, or may be inherited from a parent in an autosomal dominant manner. Treatment for SMS depends on the symptoms present in each person.

MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and trisomy 17 mosaicism, and has symptoms including hoarseness and sleep disturbances. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1). The drugs Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney, and related phenotypes are hypertelorism and obesity

Disease Ontology : 12 A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.

Genetics Home Reference : 25 Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.

UniProtKB/Swiss-Prot : 75 Smith-Magenis syndrome: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.

Wikipedia : 76 Smith–Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities,... more...

Description from OMIM: 182290
GeneReviews: NBK1310
Sources

Related Diseases for Smith-Magenis Syndrome

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Diseases related to Smith-Magenis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 potocki-lupski syndrome 28.2 LLGL1 LOC106020709 LOC106020710 LOC108745275 LOC108745276 RAI1
2 trisomy 17 mosaicism 12.3
3 spinocerebellar ataxia 17 12.3
4 retinitis pigmentosa 17 12.2
5 ciliary dyskinesia, primary, 17 12.1
6 sm-ahnmd 12.1
7 spastic paraplegia 17, autosomal dominant 12.1
8 cardiomyopathy, familial hypertrophic, 17 12.1
9 parkinson disease 17 12.1
10 inflammatory bowel disease 17 12.1
11 deafness, autosomal dominant 17 12.1
12 autism 17 12.1
13 joubert syndrome 17 12.1
14 amyotrophic lateral sclerosis 17 12.1
15 leber congenital amaurosis 17 12.1
16 bardet-biedl syndrome 17 12.1
17 spinocerebellar ataxia, autosomal recessive 17 12.1
18 hypogonadotropic hypogonadism 17 with or without anosmia 12.1
19 combined oxidative phosphorylation deficiency 17 12.1
20 immunodeficiency 17 12.1
21 bleeding disorder, platelet-type, 17 12.1
22 cataract 17, multiple types 12.1
23 myasthenic syndrome, congenital, 17 12.1
24 microcephaly 17, primary, autosomal recessive 12.0
25 short-rib thoracic dysplasia 17 with or without polydactyly 12.0
26 diamond-blackfan anemia 17 12.0
27 ring chromosome 17 12.0
28 epileptic encephalopathy, early infantile, 17 12.0
29 spermatogenic failure 17 12.0
30 syndromic x-linked intellectual disability snyder type 12.0
31 spastic paraplegia 17 12.0
32 mosaic trisomy 17 12.0
33 alzheimer disease 17 11.9
34 mental retardation, x-linked, syndromic 17 11.9
35 deafness, autosomal recessive 17 11.9
36 cone-rod dystrophy 17 11.8
37 myopia 17, autosomal dominant 11.8
38 type 1 diabetes mellitus 17 11.8
39 deafness, autosomal dominant nonsyndromic sensorineural 17 11.8
40 diabetes mellitus, insulin-dependent, 17 11.8
41 bone mineral density quantitative trait locus 17 11.8
42 acute promyelocytic leukemia 11.8
43 dystonia 17, torsion, autosomal recessive 11.8
44 stature quantitative trait locus 17 11.8
45 leukodystrophy, hypomyelinating, 17 11.8
46 mental retardation, x-linked, syndromic, snyder-robinson type 11.6
47 stiff-person syndrome 11.6
48 16p11.2 deletion syndrome 11.6
49 systemic mastocytosis 11.5
50 osteoporosis 11.4

Graphical network of the top 20 diseases related to Smith-Magenis Syndrome:



Diseases related to Smith-Magenis Syndrome
Sources

Symptoms & Phenotypes for Smith-Magenis Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
sleep disturbance
speech delay
mental retardation (iq 20-78)
structural brain abnormalities

Head And Neck Head:
brachycephaly

Skeletal Hands:
brachydactyly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
behavioral problems
polyembolokoilamania (insertion of foreign bodies into body orifices)
self-destructive behavior
onychotillomania (pulling out nails)
more
Cardiovascular Heart:
congenital heart defect

Head And Neck Ears:
hearing loss (conductive and/or sensorineural)

Laboratory Abnormalities:
interstitial deletion of 17p11.2 (most common is 3.7mb)

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased pain sensitivity
normal nerve conduction velocities
decrease/absent deep tendon reflexes

Voice:
hoarse voice

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
midface hypoplasia
broad face

Genitourinary Kidneys:
structural renal anomalies


Clinical features from OMIM:

182290

Human phenotypes related to Smith-Magenis Syndrome:

59 32 (show top 50) (show all 100)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 frequent (33%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
10 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
11 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
12 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
13 sleep disturbance 59 32 frequent (33%) Very frequent (99-80%) HP:0002360
14 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
15 self-injurious behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0100716
16 large face 59 32 hallmark (90%) Very frequent (99-80%) HP:0100729
17 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
18 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
19 global developmental delay 59 32 frequent (33%) Very frequent (99-80%) HP:0001263
20 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
21 wide nasal bridge 59 32 frequent (33%) Very frequent (99-80%) HP:0000431
22 delayed speech and language development 59 32 frequent (33%) Very frequent (99-80%) HP:0000750
23 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
24 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
25 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
26 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
27 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
28 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
29 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
30 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
31 stereotypy 59 32 frequent (33%) Very frequent (99-80%) HP:0000733
32 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
33 brachycephaly 59 32 frequent (33%) Very frequent (99-80%) HP:0000248
34 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
35 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
36 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
37 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
38 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
39 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
40 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
41 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
42 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
43 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
44 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
45 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
46 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
47 deeply set eye 59 32 frequent (33%) Very frequent (99-80%) HP:0000490
48 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
49 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
50 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194

UMLS symptoms related to Smith-Magenis Syndrome:


hoarseness, sleep disturbances
Sources

Drugs & Therapeutics for Smith-Magenis Syndrome

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Drugs for Smith-Magenis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 73-31-4 896
2 Antioxidants Phase 3,Phase 1,Not Applicable
3 Central Nervous System Depressants Phase 3,Phase 1,Not Applicable
4 Protective Agents Phase 3,Phase 1,Not Applicable
5
Hydrocortisone Approved, Vet_approved 50-23-7 5754
6 Anti-Inflammatory Agents
7 Cortisol succinate
8 Hydrocortisone 17-butyrate 21-propionate
9 Hydrocortisone acetate

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS Unknown status NCT02231008 Phase 2, Phase 3 tasimelteon
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Treatment Strategies for Children With Smith-Magenis Syndrome Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
4 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
5 Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Recruiting NCT02776215 Phase 1 tasimelteon
6 Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS) Unknown status NCT02180451
7 Melatonin Levels in Smith Magenis Syndrome (SMS) Completed NCT00691574 Not Applicable
8 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
9 Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances Recruiting NCT03154697
10 Natural History Study of Smith-Magenis Syndrome Recruiting NCT00013559
11 Melatonin in Adults With SMS Recruiting NCT03492970 Not Applicable

Search NIH Clinical Center for Smith-Magenis Syndrome

Sources

Genetic Tests for Smith-Magenis Syndrome

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Genetic tests related to Smith-Magenis Syndrome:

# Genetic test Affiliating Genes
1 Smith-Magenis Syndrome 29 RAI1
Sources

Anatomical Context for Smith-Magenis Syndrome

About this section

MalaCards organs/tissues related to Smith-Magenis Syndrome:

41
Heart, Brain, Kidney, Eye, Thyroid, B Cells
Sources

Publications for Smith-Magenis Syndrome

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Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 193)
# Title Authors Year
1
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. ( 29321841 )
2018
2
A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. ( 29794985 )
2018
3
Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients. ( 29346496 )
2018
4
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
5
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome. ( 29494847 )
2018
6
<i>RAI1</i> gene mutations: mechanisms of Smith-Magenis syndrome. ( 29138588 )
2017
7
Moyamoya in a Patient with Smith-Magenis Syndrome. ( 28380489 )
2017
8
Auditory Phenotype of Smith-Magenis Syndrome. ( 28384694 )
2017
9
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. ( 28286158 )
2017
10
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
11
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. ( 27683195 )
2017
12
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. ( 27386852 )
2016
13
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. ( 26817868 )
2016
14
Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature. ( 27494126 )
2016
15
Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects. ( 28040141 )
2016
16
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. ( 27633572 )
2016
17
Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome. ( 27495174 )
2016
18
Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention. ( 27743421 )
2016
19
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ( 27311559 )
2016
20
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. ( 27693255 )
2016
21
Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome. ( 26983920 )
2016
22
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. ( 26336863 )
2015
23
Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man. ( 25434872 )
2015
24
Smith-Magenis Syndrome: Face Speaks. ( 26676648 )
2015
25
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. ( 26323055 )
2015
26
Dermatologic Features of Smith-Magenis Syndrome. ( 25684097 )
2015
27
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature. ( 25929900 )
2015
28
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. ( 26384114 )
2015
29
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. ( 24788350 )
2014
30
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). ( 25036569 )
2014
31
Periventricular nodular heterotopia in Smith-Magenis syndrome. ( 25257626 )
2014
32
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. ( 24863970 )
2014
33
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions. ( 24715852 )
2014
34
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. ( 23703963 )
2013
35
Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome. ( 24032296 )
2013
36
Daytime somnolence in an adult with Smith-Magenis syndrome. ( 23687097 )
2013
37
Smith-Magenis syndrome. ( 23622179 )
2013
38
The nature of social preference and interactions in Smith-Magenis syndrome. ( 24120292 )
2013
39
Cognitive functioning in children and adults with Smith-Magenis syndrome. ( 22579991 )
2012
40
An indirect examination of the function of problem behavior associated with fragile X syndrome and Smith-Magenis syndrome. ( 21442360 )
2012
41
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. ( 23255863 )
2012
42
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. ( 22911601 )
2012
43
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. ( 22578325 )
2012
44
Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. ( 22724898 )
2012
45
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. ( 22672270 )
2012
46
Analysis of the sensory profile in children with Smith-Magenis syndrome. ( 21599572 )
2012
47
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. ( 21897445 )
2012
48
[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]. ( 22971658 )
2012
49
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. ( 23028815 )
2012
50
Alteration of the circadian clock in children with Smith-Magenis syndrome. ( 22162479 )
2012
Sources

Variations for Smith-Magenis Syndrome

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ClinVar genetic disease variations for Smith-Magenis Syndrome:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAI1 RAI1, 1-BP DEL, 4929C deletion Pathogenic
2 RAI1 RAI1, 1-BP DEL, 1308C deletion Pathogenic
3 RAI1 RAI1, 29-BP DEL deletion Pathogenic
4 RAI1 NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn) single nucleotide variant Pathogenic rs104894633 GRCh37 Chromosome 17, 17701685: 17701685
5 RAI1 NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn) single nucleotide variant Pathogenic rs104894633 GRCh38 Chromosome 17, 17798371: 17798371
6 RAI1 NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg) single nucleotide variant Pathogenic rs104894634 GRCh37 Chromosome 17, 17700947: 17700947
7 RAI1 NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg) single nucleotide variant Pathogenic rs104894634 GRCh38 Chromosome 17, 17797633: 17797633
8 RAI1 RAI1, 1-BP DEL, 3801C deletion Pathogenic
9 RAI1 RAI1, 19-BP DEL deletion Pathogenic
10 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh37 Chromosome 17, 17696674: 17696674
11 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh38 Chromosome 17, 17793360: 17793360
12 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh37 Chromosome 17, 17698535: 17698535
13 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh38 Chromosome 17, 17795221: 17795221
14 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh37 Chromosome 17, 17700940: 17700940
15 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh38 Chromosome 17, 17797626: 17797626
16 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh37 Chromosome 17, 17699845: 17699845
17 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh38 Chromosome 17, 17796531: 17796531
18 chr17 deletion Pathogenic
19 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh37 Chromosome 17, 17699543: 17699543
20 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh38 Chromosome 17, 17796229: 17796229
21 subset of 866 genes:BRCA1; COL1A1; EFTUD2; HNF1B; KANSL1; NF1; NOG; RAI1; RNF135; SOX9; TBX4 NC_000017.10: g.17711738_217748468del200036731 deletion Pathogenic GRCh37 Chromosome 17, 17711738: 217748468
22 RAI1 NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs) deletion Pathogenic rs886044681 GRCh37 Chromosome 17, 17699358: 17699358
23 RAI1 NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs) deletion Pathogenic rs886044681 GRCh38 Chromosome 17, 17796044: 17796044
24 RAI1 NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance rs1057519065 GRCh37 Chromosome 17, 17698010: 17698010
25 RAI1 NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance rs1057519065 GRCh38 Chromosome 17, 17794696: 17794696
26 RAI1 NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs) deletion Pathogenic rs1135401792 GRCh38 Chromosome 17, 17795914: 17795917
27 RAI1 NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs) deletion Pathogenic rs1135401792 GRCh37 Chromosome 17, 17699228: 17699231
28 RAI1 NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs) duplication Pathogenic GRCh37 Chromosome 17, 17700935: 17700935
29 RAI1 NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs) duplication Pathogenic GRCh38 Chromosome 17, 17797621: 17797621
30 RAI1 NM_030665.3(RAI1): c.2469_2470insG (p.Leu825Alafs) insertion Pathogenic GRCh37 Chromosome 17, 17698731: 17698732
31 RAI1 NM_030665.3(RAI1): c.2469_2470insG (p.Leu825Alafs) insertion Pathogenic GRCh38 Chromosome 17, 17795417: 17795418

Copy number variations for Smith-Magenis Syndrome from CNVD:

7 (show all 17)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 21481 17 15900000 22100000 Deletion RAI1 Smith-Magenis syndrome
2 107514 17 15900000 22100000 Deletion Smith-Magenis syndrome
3 107515 17 15900000 22100000 Deletion Smith-Magenis syndrome
4 107516 17 15900000 22100000 Deletion RAI1 Smith-Magenis syndrome
5 107517 17 15900000 22100000 Deletion RAI1 Smith-Magenis syndrome
6 107518 17 15900000 22100000 Deletion RAI1 Smith-Magenis syndrome
7 107545 17 15900000 22100000 Microdeletion Smith-Magenis syndrome
8 107546 17 15900000 22100000 Microdeletion Smith-Magenis syndrome
9 107547 17 15900000 22100000 Microdeletion Smith-Magenis syndrome
10 107548 17 15900000 22100000 Microdeletion Smith-Magenis syndrome
11 107549 17 15900000 22100000 Microdeletion Smith-Magenis syndrome
12 107577 17 16000000 22200000 Deletion Smith-Magenis syndrome
13 107878 17 17816923 17860898 Copy number LRRC48 Smith-Magenis syndrome
14 107924 17 18069660 18088913 Copy number LLGL1 Smith-Magenis syndrome
15 108853 17 23200000 28800000 Deletion Smith-Magenis syndrome
16 160842 22 16300000 24300000 Microdeletion Smith-Magenis syndrome
17 208608 6 17525511 17655490 Copy number RAI1 Smith-Magenis syndrome
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Expression for Smith-Magenis Syndrome

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Search GEO for disease gene expression data for Smith-Magenis Syndrome.
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Pathways for Smith-Magenis Syndrome

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GO Terms for Smith-Magenis Syndrome

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Biological processes related to Smith-Magenis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of TOR signaling GO:0032008 8.62 FLCN SMCR8
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Sources for Smith-Magenis Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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