SMS
MCID: SMT008
MIFTS: 55

Smith-Magenis Syndrome (SMS)

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

Aliases & Classifications for Smith-Magenis Syndrome

MalaCards integrated aliases for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 71
Sms 56 52 25 73
Chromosome 17p11.2 Deletion Syndrome 56 12 52
Chromosome 17p Deletion Syndrome 25 71
17p11.2 Microdeletion Syndrome 12 58
17p11.2 Monosomy 25 71
Syndrome, Smith-Magenis 39
Deletion 17p Syndrome 25
Partial Monosomy 17p 25
17p- Syndrome 25
Del(17) 24
P11.2 24

Characteristics:

Orphanet epidemiological data:

58
smith-magenis syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Smith-Magenis Syndrome

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. Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep at night and awaken several times during the night and early morning. People with Smith-Magenis syndrome typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. Some people with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip"). Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.

MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and sm-ahnmd, and has symptoms including sleep disturbances and hoarseness. 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, kidney and eye, and related phenotypes are obesity and frontal bossing

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.

NIH Rare Diseases : 52 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.

KEGG : 36 Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region.

UniProtKB/Swiss-Prot : 73 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 : 74 Smith-Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities,... more...

More information 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 662)
# Related Disease Score Top Affiliating Genes
1 potocki-lupski syndrome 31.1 SMCR5 RAI1 LOC108745276 LOC108745275 LOC106020710 LOC106020709
2 sm-ahnmd 12.4
3 mental retardation, x-linked, syndromic, snyder-robinson type 12.1
4 syndromic x-linked intellectual disability snyder type 12.0
5 singleton-merten syndrome 11.9
6 16p11.2 deletion syndrome 11.9
7 stiff-person syndrome 11.9
8 osteoporosis 11.8
9 chromosome 17p deletion 11.8
10 systemic mastocytosis 11.8
11 sarcoma, synovial 11.7
12 systemic mastocytosis with associated hematologic neoplasm 11.7
13 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.7
14 chromosome 2q37 deletion syndrome 11.5
15 deaf1-associated disorders 11.5
16 mast-cell leukemia 11.5
17 chromosome 17q23.1-q23.2 deletion syndrome 11.5
18 chromosome 17p13.1 deletion syndrome 11.5
19 koolen-de vries syndrome 11.4
20 chromosome 17q12 deletion syndrome 11.4
21 17q12 recurrent deletion syndrome 11.4
22 chromosome 17q11.2 deletion syndrome 11.4
23 distal 17p13.3 microdeletion syndrome 11.4
24 17q24.2 microdeletion syndrome 11.4
25 chromosome 16p11.2 duplication syndrome 11.3
26 microcephaly 1, primary, autosomal recessive 11.3
27 16p11.2 duplication 11.2
28 steatocystoma multiplex 11.2
29 chromosome 16p11.2 deletion syndrome, 593-kb 11.2
30 chromosome 16p11.2 deletion syndrome, 220-kb 11.2
31 8p11.2 deletion syndrome 11.2
32 alacrima, achalasia, and mental retardation syndrome 10.8
33 sleep disorder 10.8
34 brachydactyly 10.7
35 hypotonia 10.7
36 acromegaly 10.6
37 scoliosis 10.6
38 peripheral nervous system disease 10.6
39 neuropathy 10.6
40 systemic lupus erythematosus 10.6
41 charcot-marie-tooth disease, demyelinating, type 1a 10.6
42 down syndrome 10.6
43 autism spectrum disorder 10.5
44 lupus erythematosus 10.5
45 strabismus 10.5
46 mechanical strabismus 10.5
47 connective tissue disease 10.5
48 diarrhea 10.5
49 autism 10.5
50 hydrocephalus, congenital, 1 10.5

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



Diseases related to Smith-Magenis Syndrome

Symptoms & Phenotypes for Smith-Magenis Syndrome

Human phenotypes related to Smith-Magenis Syndrome:

58 31 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
5 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
6 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
7 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
8 self-injurious behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0100716
9 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
10 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
11 wide nasal bridge 58 31 frequent (33%) Very frequent (99-80%) HP:0000431
12 delayed speech and language development 58 31 frequent (33%) Very frequent (99-80%) HP:0000750
13 brachydactyly 58 31 frequent (33%) Very frequent (99-80%) HP:0001156
14 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
15 stereotypy 58 31 frequent (33%) Very frequent (99-80%) HP:0000733
16 brachycephaly 58 31 frequent (33%) Very frequent (99-80%) HP:0000248
17 tented upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010804
18 attention deficit hyperactivity disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007018
19 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
20 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
21 deeply set eye 58 31 frequent (33%) Very frequent (99-80%) HP:0000490
22 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
23 synophrys 58 31 frequent (33%) Very frequent (99-80%) HP:0000664
24 taurodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000679
25 hyporeflexia 58 31 frequent (33%) Very frequent (99-80%) HP:0001265
26 hoarse voice 58 31 very rare (1%) Very frequent (99-80%) HP:0001609
27 delayed eruption of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000680
28 abnormal tracheobronchial morphology 58 31 frequent (33%) Very frequent (99-80%) HP:0005607
29 corticospinal tract hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007016
30 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
31 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
32 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
33 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
34 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
35 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
36 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
37 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
38 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
39 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
40 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
41 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
42 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
43 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
44 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
45 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
46 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
47 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
48 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
49 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
50 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
sleep disturbance
speech delay
mental retardation (iq 20-78)
structural brain abnormalities

Skeletal Hands:
brachydactyly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
head-banging
behavioral problems
polyembolokoilamania (insertion of foreign bodies into body orifices)
self-destructive behavior
more
Voice:
hoarse voice

Head And Neck Nose:
broad nasal bridge

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

Head And Neck Head:
brachycephaly

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

Head And Neck Face:
broad face
midface hypoplasia

Cardiovascular Heart:
congenital heart defect

Genitourinary Kidneys:
structural renal anomalies

Clinical features from OMIM:

182290

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 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
2 Antioxidants Phase 3
3 Central Nervous System Depressants Phase 3
4 Protective Agents Phase 3
5 Hormone Antagonists Phase 2, Phase 3
6 alpha-MSH Phase 2, Phase 3 581-05-5
7 Hormones Phase 2, Phase 3
8
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
10
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
11 Daratumumab Approved Phase 2 945721-28-8
12
Ixazomib Approved, Investigational Phase 2 1072833-77-2
13
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
14 Anti-Inflammatory Agents Phase 2
15 Antiemetics Phase 2
16 Gastrointestinal Agents Phase 2
17 Immunologic Factors Phase 2
18 Antibodies, Monoclonal Phase 2
19 HIV Protease Inhibitors Phase 2
20 Alkylating Agents Phase 2
21
protease inhibitors Phase 2
22 Anti-Infective Agents Phase 2
23 Angiogenesis Inhibitors Phase 2
24 Autonomic Agents Phase 2
25 BB 1101 Phase 2
26 Antirheumatic Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 glucocorticoids Phase 2
30 Anti-Bacterial Agents Phase 2
31 Immunoglobulins Phase 2
32 Antibodies Phase 2
33
Hydrocortisone acetate Approved, Vet_approved 50-03-3
34
Hydrocortisone Approved, Vet_approved 50-23-7 5754
35 Hydrocortisone hemisuccinate
36 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:

(show all 13)
# 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 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
4 A Multicenter, Open Label, Randomized Phase II Study Comparing Daratumumab Combined With Bortezomib-Cyclophosphamide-dexamethasone (Dara-VCd) Versus the Association of Bortezomib-Thalidomide-dexamethasone (VTd) as Pre Transplant Induction and Post Transplant Consolidation, Both Followed by a Maintenance Phase With Ixazomib Alone or in Combination With Daratumumab, in Newly Diagnosed Multiple Myeloma (MM) Young Patients Eligible for Autologous Stem Cell Transplantation Recruiting NCT03896737 Phase 2 Daratumumab plus Velcade Cyclophosphamide Dexamethasone;Velcade Thalidomide Dexamethasone
5 Open-label Study to Investigate the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Unknown status NCT02776215 Phase 1 tasimelteon
6 Open Label, Single Ascending Dose, Cross-over Study to Assess the Pharmacokinetics of Circadin® (Prolonged-Release Melatonin) Mini Tablets in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
7 A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
8 Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS) Unknown status NCT02180451
9 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
10 Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome Completed NCT03492970
11 Development of Clinical Database of Individuals With Smith-Magenis Syndrome Recruiting NCT03154697
12 Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS) Recruiting NCT00013559
13 Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome: a Pilot Study Terminated NCT00691574

Search NIH Clinical Center for Smith-Magenis Syndrome

Cochrane evidence based reviews: smith-magenis syndrome

Genetic Tests for Smith-Magenis Syndrome

Genetic tests related to Smith-Magenis Syndrome:

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

Anatomical Context for Smith-Magenis Syndrome

MalaCards organs/tissues related to Smith-Magenis Syndrome:

40
Heart, Kidney, Eye, Bone, Skin, Pituitary, Thyroid

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 371)
# Title Authors PMID Year
1
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 54 61 24 56 6
15788730 2005
2
Mutations in RAI1 associated with Smith-Magenis syndrome. 61 24 56 6
12652298 2003
3
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. 61 24 56
21857958 2011
4
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. 61 24 56
17539903 2007
5
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). 61 24 56
12180145 2002
6
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. 61 24 56
11445803 2001
7
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. 61 24 56
10851253 2000
8
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. 61 24 56
9557889 1998
9
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. 61 24 56
9326934 1997
10
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) 61 24 56
8882782 1996
11
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. 61 24 56
8256814 1993
12
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). 61 24 56
1746552 1991
13
Interstitial deletion of (17)(p11.2p11.2) in nine patients. 24 56
2425619 1986
14
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 61 56
24863970 2014
15
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. 61 6
22578325 2012
16
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. 61 56
21981782 2011
17
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. 61 56
17468296 2007
18
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). 54 61 24
17431895 2007
19
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. 61 56
17273973 2007
20
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). 61 56
17024248 2006
21
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. 61 56
16845274 2006
22
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. 61 56
15746153 2005
23
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. 61 56
15459175 2004
24
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. 54 61 24
15565467 2004
25
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. 61 56
15148657 2004
26
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). 61 56
14709593 2004
27
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. 61 56
14639526 2003
28
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. 61 56
12724422 2003
29
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. 61 56
12375235 2002
30
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. 61 56
11840190 2001
31
Smith-Magenis Syndrome 61 6
20301487 2001
32
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. 61 56
11546826 2001
33
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. 61 56
11146468 2000
34
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. 61 56
10588842 1999
35
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. 61 56
8651284 1996
36
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis. 61 56
8723565 1996
37
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. 61 56
8565641 1996
38
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. 61 56
8533833 1995
39
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome. 61 56
8401506 1993
40
Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome. 61 56
8444473 1993
41
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) 61 56
1785639 1991
42
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. 61 56
1956064 1991
43
Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder. 61 24
30690916 2019
44
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. 61 24
28286158 2017
45
Rai1 frees mice from the repression of active wake behaviors by light. 61 24
28548639 2017
46
Auditory Phenotype of Smith-Magenis Syndrome. 61 24
28384694 2017
47
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. 61 24
27683195 2017
48
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome. 61 24
29138588 2017
49
Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention. 61 24
27743421 2016
50
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. 61 24
27693255 2016

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 chr17:g.(AC027266_AL353996)_(AC015726-AC087393)deldeletion Pathogenic 183386
2 RAI1 RAI1, 19-BP DELdeletion Pathogenic 2952
3 RAI1 RAI1, 1-BP DEL, 4929Cdeletion Pathogenic 2946
4 RAI1 RAI1, 1-BP DEL, 1308Cdeletion Pathogenic 2947
5 RAI1 RAI1, 29-BP DELdeletion Pathogenic 2948
6 RAI1 NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)SNV Pathogenic 2949 rs104894633 17:17701685-17701685 17:17798371-17798371
7 RAI1 NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg)SNV Pathogenic 2950 rs104894634 17:17700947-17700947 17:17797633-17797633
8 RAI1 NM_030665.4(RAI1):c.3801del (p.Thr1268fs)deletion Pathogenic 2951 17:17700059-17700059 17:17796745-17796745
9 RAI1 NM_030665.4(RAI1):c.2962_2965AAGA[1] (p.Lys989fs)short repeat Pathogenic 431118 rs1135401792 17:17699223-17699226 17:17795909-17795912
10 RAI1 NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)duplication Pathogenic 488447 rs1555566042 17:17700933-17700934 17:17797619-17797620
11 RAI1 NM_030665.4(RAI1):c.2472dup (p.Leu825fs)duplication Pathogenic 522853 rs1555565492 17:17698731-17698732 17:17795417-17795418
12 RAI1 NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)SNV Pathogenic 143197 rs527236033 17:17698535-17698535 17:17795221-17795221
13 RAI1 NC_000017.10:g.17711738_217748468del200036731deletion Pathogenic 243061 17:17711738-17748468
14 RAI1 NM_030665.4(RAI1):c.3188_3191TGAG[1] (p.Glu1065fs)short repeat Pathogenic 625530 17:17699450-17699453 17:17796136-17796139
15 subset of 49 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16842991-20217316)copy number loss Pathogenic 625730 17:16842991-20217316
16 RAI1 NM_030665.4(RAI1):c.4814del (p.Asp1605fs)deletion Pathogenic 803329 17:17701076-17701076 17:17797762-17797762
17 RAI1 NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)insertion Pathogenic 807669 17:17697331-17697332 17:17794017-17794018
18 RAI1 NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)SNV Likely pathogenic 800910 17:17698500-17698500 17:17795186-17795186
19 SMS NM_004595.5(SMS):c.581T>G (p.Val194Gly)SNV Likely pathogenic 620039 rs1569351529 X:21996153-21996153 X:21978035-21978035
20 RAI1 NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)SNV Conflicting interpretations of pathogenicity 586398 rs200719553 17:17699851-17699851 17:17796537-17796537
21 RAI1 NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del)short repeat Conflicting interpretations of pathogenicity 96187 rs149716029 17:17700043-17700045 17:17796724-17796726
22 RAI1 NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)SNV Uncertain significance 436495 rs527757515 17:17697733-17697733 17:17794419-17794419
23 RAI1 NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn)SNV Uncertain significance 436500 rs750911924 17:17700157-17700157 17:17796843-17796843
24 RAI1 NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)SNV Uncertain significance 436504 rs147844401 17:17707157-17707157 17:17803843-17803843
25 RAI1 NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn)SNV Uncertain significance 375265 rs1057519065 17:17698010-17698010 17:17794696-17794696
26 RAI1 NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln)SNV Uncertain significance 634629 rs200001615 17:17698049-17698049 17:17794735-17794735
27 RAI1 NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)SNV Benign/Likely benign 167562 rs142415050 17:17699912-17699912 17:17796598-17796598
28 RAI1 NM_030665.4(RAI1):c.840del (p.Gln280fs)deletion Benign 587783 rs34083643 17:17697102-17697102 17:17793788-17793788
29 RAI1 NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)SNV Benign 96190 rs4925112 17:17700573-17700573 17:17797259-17797259
30 RAI1 NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)SNV Benign 96191 rs117995220 17:17700774-17700774 17:17797460-17797460
31 RAI1 NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)SNV Benign 96192 rs35686634 17:17700792-17700792 17:17797478-17797478
32 RAI1 NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)SNV Benign 96194 rs11649804 17:17696755-17696755 17:17793441-17793441
33 RAI1 NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)SNV Benign 96195 rs3818717 17:17707105-17707105 17:17803791-17803791
34 RAI1 NM_030665.4(RAI1):c.1992G>A (p.Pro664=)SNV Benign 96179 rs8067439 17:17698254-17698254 17:17794940-17794940
35 RAI1 NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)SNV Benign 96183 rs3803763 17:17696531-17696531 17:17793217-17793217

Copy number variations for Smith-Magenis Syndrome from CNVD:

7 (show all 17)
# CNVD ID Chromosome 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

Sources for Smith-Magenis Syndrome

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