MCID: SMT008
MIFTS: 54

Smith-Magenis Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Smith-Magenis Syndrome

MalaCards integrated aliases for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 53 12 23 49 24 55 71 36 28 13 51 14 69
Sms 53 49 24 71
Chromosome 17p11.2 Deletion Syndrome 53 12 49
Chromosome 17p Deletion Syndrome 24 69
17p11.2 Microdeletion Syndrome 12 55
17p11.2 Monosomy 24 69
Smith Magenis Syndrome 72
Deletion 17p Syndrome 24
Partial Monosomy 17p 24
17p- Syndrome 24
P11.2 23
Del 23
17 23

Characteristics:

Orphanet epidemiological data:

55
smith-magenis syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant
isolated cases

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


HPO:

31
smith-magenis syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Smith-Magenis Syndrome

NIH Rare Diseases : 49 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. Last updated: 8/28/2017

MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and potocki-luspski syndrome, and has symptoms including constipation, seizures and joint stiffness. 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.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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.

Description from OMIM: 182290
GeneReviews: NBK1310

Related Diseases for Smith-Magenis Syndrome

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 potocki-lupski syndrome 29.8 FLCN RAI1
2 potocki-luspski syndrome 29.7 DRG2 LLGL1 SHMT1 SREBF1
3 trisomy 17 mosaicism 12.3
4 spinocerebellar ataxia 17 12.2
5 retinitis pigmentosa 17 12.2
6 sm-ahnmd 12.1
7 ciliary dyskinesia, primary, 17 12.1
8 spastic paraplegia 17, autosomal dominant 12.1
9 cardiomyopathy, familial hypertrophic, 17 12.1
10 deafness, autosomal dominant 17 12.1
11 inflammatory bowel disease 17 12.1
12 parkinson disease 17 12.1
13 cataract 17, multiple types 12.1
14 autism 17 12.1
15 joubert syndrome 17 12.1
16 amyotrophic lateral sclerosis 17 12.1
17 leber congenital amaurosis 17 12.1
18 bardet-biedl syndrome 17 12.1
19 spinocerebellar ataxia, autosomal recessive 17 12.1
20 hypogonadotropic hypogonadism 17 with or without anosmia 12.0
21 combined oxidative phosphorylation deficiency 17 12.0
22 immunodeficiency 17 12.0
23 myasthenic syndrome, congenital, 17 12.0
24 bleeding disorder, platelet-type, 17 12.0
25 ring chromosome 17 12.0
26 epileptic encephalopathy, early infantile, 17 12.0
27 microcephaly 17, primary, autosomal recessive 12.0
28 short-rib thoracic dysplasia 17 with or without polydactyly 12.0
29 diamond-blackfan anemia 17 12.0
30 spermatogenic failure 17 12.0
31 syndromic x-linked intellectual disability snyder type 12.0
32 mosaic trisomy 17 12.0
33 spastic paraplegia 17 11.9
34 alzheimer disease 17 11.9
35 mental retardation, x-linked, syndromic 17 11.9
36 deafness, autosomal recessive 17 11.9
37 cone-rod dystrophy 17 11.8
38 myopia 17, autosomal dominant 11.8
39 type 1 diabetes mellitus 17 11.8
40 diabetes mellitus, insulin-dependent, 17 11.8
41 deafness, autosomal dominant nonsyndromic sensorineural 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 neuroblastoma breakpoint family, member 17, pseudogene 11.7
46 bone mineral density quantitative trait locus 17 11.7
47 torsion dystonia 17 11.7
48 stiff-person syndrome 11.6
49 16p11.2 deletion syndrome 11.6
50 mental retardation, x-linked, syndromic, snyder-robinson type 11.6

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



Diseases related to Smith-Magenis Syndrome

Symptoms & Phenotypes for Smith-Magenis Syndrome

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
sleep disturbance
speech delay
mental retardation (iq 20-78)
structural brain abnormalities

HeadAndNeckHead:
brachycephaly

SkeletalHands:
brachydactyly

NeurologicBehavioralPsychiatricManifestations:
hyperactivity
behavioral problems
polyembolokoilamania (insertion of foreign bodies into body orifices)
self-destructive behavior
onychotillomania (pulling out nails)
more
CardiovascularHeart:
congenital heart defect

HeadAndNeckEars:
hearing loss (conductive and/or sensorineural)

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

SkeletalSpine:
scoliosis

NeurologicPeripheralNervousSystem:
peripheral neuropathy
decreased pain sensitivity
normal nerve conduction velocities
decrease/absent deep tendon reflexes

Voice:
hoarse voice

HeadAndNeckNose:
broad nasal bridge

HeadAndNeckFace:
midface hypoplasia
broad face

GenitourinaryKidneys:
structural renal anomalies


Clinical features from OMIM:

182290

Human phenotypes related to Smith-Magenis Syndrome:

55 31 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 seizures 55 31 frequent (33%) Occasional (29-5%) HP:0001250
3 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
4 hyperacusis 55 31 frequent (33%) Frequent (79-30%) HP:0010780
5 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
6 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
7 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
8 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
9 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
10 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
11 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
12 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
13 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
14 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
15 sleep disturbance 55 31 frequent (33%) Very frequent (99-80%) HP:0002360
16 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
17 self-injurious behavior 55 31 hallmark (90%) Very frequent (99-80%) HP:0100716
18 large face 55 31 hallmark (90%) Very frequent (99-80%) HP:0100729
19 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
20 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
21 global developmental delay 55 31 frequent (33%) Very frequent (99-80%) HP:0001263
22 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
23 wide nasal bridge 55 31 frequent (33%) Very frequent (99-80%) HP:0000431
24 delayed speech and language development 55 31 frequent (33%) Very frequent (99-80%) HP:0000750
25 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
26 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
27 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
28 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
29 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
30 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
31 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
32 stereotypy 55 31 frequent (33%) Very frequent (99-80%) HP:0000733
33 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
34 brachycephaly 55 31 frequent (33%) Very frequent (99-80%) HP:0000248
35 hypertriglyceridemia 55 31 frequent (33%) Frequent (79-30%) HP:0002155
36 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
37 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
38 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
39 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
40 attention deficit hyperactivity disorder 55 31 hallmark (90%) Very frequent (99-80%) HP:0007018
41 anxiety 55 31 hallmark (90%) Very frequent (99-80%) HP:0000739
42 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0001531
43 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
44 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
45 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
46 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
47 short philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000322
48 deeply set eye 55 31 frequent (33%) Very frequent (99-80%) HP:0000490
49 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
50 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541

UMLS symptoms related to Smith-Magenis Syndrome:


sleep disturbances, hoarseness

Drugs & Therapeutics for Smith-Magenis Syndrome

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 73-31-4 896
2 Antioxidants Phase 3,Phase 1
3 Central Nervous System Depressants Phase 3,Phase 1
4 Protective Agents Phase 3,Phase 1
5
Hydrocortisone Approved, Vet_approved 50-23-7 657311 5754
6 Anti-Inflammatory Agents
7 Cortisol succinate
8 Hydrocortisone 17-butyrate 21-propionate
9 Hydrocortisone acetate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS Recruiting NCT02231008 Phase 2, Phase 3 tasimelteon
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
4 Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Recruiting NCT02776215 Phase 1 tasimelteon
5 Treatment Strategies for Children With Smith-Magenis Syndrome Active, not recruiting NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
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
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

Search NIH Clinical Center for Smith-Magenis Syndrome

Genetic Tests for Smith-Magenis Syndrome

Genetic tests related to Smith-Magenis Syndrome:

# Genetic test Affiliating Genes
1 Smith-Magenis Syndrome 28 RAI1

Anatomical Context for Smith-Magenis Syndrome

MalaCards organs/tissues related to Smith-Magenis Syndrome:

38
Heart, Brain, Kidney, Eye, Thyroid, B Cells

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 188)
# Title Authors Year
1
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. ( 29321841 )
2018
2
Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients. ( 29346496 )
2018
3
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. ( 28286158 )
2017
4
Auditory Phenotype of Smith-Magenis Syndrome. ( 28384694 )
2017
5
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
6
Moyamoya in a Patient with Smith-Magenis Syndrome. ( 28380489 )
2017
7
<i>RAI1</i> gene mutations: mechanisms of Smith-Magenis syndrome. ( 29138588 )
2017
8
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. ( 27683195 )
2017
9
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. ( 27386852 )
2016
10
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. ( 26817868 )
2016
11
Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome. ( 26983920 )
2016
12
Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects. ( 28040141 )
2016
13
Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature. ( 27494126 )
2016
14
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ( 27311559 )
2016
15
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. ( 27633572 )
2016
16
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. ( 27693255 )
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
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature. ( 25929900 )
2015
20
Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man. ( 25434872 )
2015
21
Smith-Magenis Syndrome: Face Speaks. ( 26676648 )
2015
22
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. ( 26336863 )
2015
23
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. ( 26384114 )
2015
24
Dermatologic Features of Smith-Magenis Syndrome. ( 25684097 )
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
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). ( 25036569 )
2014
27
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. ( 24788350 )
2014
28
Periventricular nodular heterotopia in Smith-Magenis syndrome. ( 25257626 )
2014
29
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
30
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions. ( 24715852 )
2014
31
Daytime somnolence in an adult with Smith-Magenis syndrome. ( 23687097 )
2013
32
Smith-Magenis syndrome. ( 23622179 )
2013
33
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. ( 23703963 )
2013
34
The nature of social preference and interactions in Smith-Magenis syndrome. ( 24120292 )
2013
35
Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome. ( 24032296 )
2013
36
Cognitive functioning in children and adults with Smith-Magenis syndrome. ( 22579991 )
2012
37
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
38
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. ( 23028815 )
2012
39
Analysis of the sensory profile in children with Smith-Magenis syndrome. ( 21599572 )
2012
40
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. ( 23255863 )
2012
41
Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. ( 22724898 )
2012
42
Alteration of the circadian clock in children with Smith-Magenis syndrome. ( 22162479 )
2012
43
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. ( 21897445 )
2012
44
An indirect examination of the function of problem behavior associated with fragile X syndrome and Smith-Magenis syndrome. ( 21442360 )
2012
45
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. ( 22911601 )
2012
46
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. ( 22672270 )
2012
47
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. ( 21480478 )
2011
48
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. ( 21965155 )
2011
49
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. ( 21514638 )
2011
50
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. ( 21739587 )
2011

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh37 Chromosome 17, 17696674: 17696674
2 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh37 Chromosome 17, 17698535: 17698535
3 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh37 Chromosome 17, 17700940: 17700940
4 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh37 Chromosome 17, 17699845: 17699845
5 chr17 deletion Pathogenic
6 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh37 Chromosome 17, 17699543: 17699543
7 RAI1 RAI1, 1-BP DEL, 4929C deletion Pathogenic
8 RAI1 RAI1, 1-BP DEL, 1308C deletion Pathogenic
9 RAI1 RAI1, 29-BP DEL deletion Pathogenic
10 RAI1 NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn) single nucleotide variant Pathogenic rs104894633 GRCh37 Chromosome 17, 17701685: 17701685
11 RAI1 NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg) single nucleotide variant Pathogenic rs104894634 GRCh37 Chromosome 17, 17700947: 17700947
12 RAI1 RAI1, 1-BP DEL, 3801C deletion Pathogenic
13 RAI1 RAI1, 19-BP DEL deletion Pathogenic
14 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
15 RAI1 NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs) deletion Pathogenic rs886044681 GRCh37 Chromosome 17, 17699358: 17699358
16 RAI1 NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs) deletion Pathogenic rs1135401792 GRCh38 Chromosome 17, 17795914: 17795917

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

Expression for Smith-Magenis Syndrome

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

Pathways for Smith-Magenis Syndrome

GO Terms for Smith-Magenis Syndrome

Cellular components related to Smith-Magenis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.44 COPS3 DEAF1 DRG2 FLCN FLII IQSEC2

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

Sources for Smith-Magenis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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