SMS
MCID: SMT008
MIFTS: 58

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 57 12 24 53 25 59 75 37 29 13 55 6 44 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
Smithmagenis 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:



Summaries for Smith-Magenis Syndrome

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 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, testes and pituitary, 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

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 1323)
# Related Disease Score Top Affiliating Genes
1 potocki-lupski syndrome 30.0 RAI1 LOC108745276 LOC108745275 LOC106020710 LOC106020709
2 trisomy 17 mosaicism 12.5
3 spinocerebellar ataxia 17 12.4
4 retinitis pigmentosa 17 12.4
5 ring chromosome 17 12.4
6 ciliary dyskinesia, primary, 17 12.3
7 sm-ahnmd 12.3
8 spastic paraplegia 17, autosomal dominant 12.3
9 cardiomyopathy, familial hypertrophic, 17 12.3
10 parkinson disease 17 12.3
11 inflammatory bowel disease 17 12.3
12 joubert syndrome 17 12.3
13 deafness, autosomal dominant 17 12.2
14 autism 17 12.2
15 amyotrophic lateral sclerosis 17 12.2
16 leber congenital amaurosis 17 12.2
17 bardet-biedl syndrome 17 12.2
18 spinocerebellar ataxia, autosomal recessive 17 12.2
19 bleeding disorder, platelet-type, 17 12.2
20 hypogonadotropic hypogonadism 17 with or without anosmia 12.2
21 combined oxidative phosphorylation deficiency 17 12.2
22 immunodeficiency 17 12.2
23 cataract 17, multiple types 12.2
24 myasthenic syndrome, congenital, 17 12.2
25 microcephaly 17, primary, autosomal recessive 12.2
26 spermatogenic failure 17 12.2
27 diamond-blackfan anemia 17 12.2
28 short-rib thoracic dysplasia 17 with or without polydactyly 12.2
29 epileptic encephalopathy, early infantile, 17 12.2
30 leukodystrophy, hypomyelinating, 17 12.2
31 glycosylphosphatidylinositol biosynthesis defect 17 12.2
32 spastic paraplegia 17 12.1
33 syndromic x-linked intellectual disability snyder type 12.1
34 mosaic trisomy 17 12.1
35 alzheimer disease 17 12.0
36 mental retardation, x-linked, syndromic 17 12.0
37 deafness, autosomal recessive 17 12.0
38 cone-rod dystrophy 17 12.0
39 myopia 17, autosomal dominant 12.0
40 type 1 diabetes mellitus 17 12.0
41 deafness, autosomal dominant nonsyndromic sensorineural 17 12.0
42 mental retardation, x-linked, syndromic, snyder-robinson type 11.9
43 diabetes mellitus, insulin-dependent, 17 11.9
44 bone mineral density quantitative trait locus 17 11.9
45 acute promyelocytic leukemia 11.9
46 dystonia 17, torsion, autosomal recessive 11.9
47 stature quantitative trait locus 17 11.9
48 muscular dystrophy, limb-girdle, autosomal recessive 17 11.8
49 torsion dystonia 17 11.8
50 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.8

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:

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 101)
# 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:


sleep disturbances, hoarseness

Drugs & Therapeutics for Smith-Magenis Syndrome

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

(show all 13)
# 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 Protective Agents Phase 3,Phase 1,Not Applicable
4 Central Nervous System Depressants Phase 3,Phase 1,Not Applicable
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
7 alpha-MSH Phase 2, Phase 3 581-05-5
8 Hormones Phase 2, Phase 3
9
Hydrocortisone acetate Approved, Vet_approved 50-03-3
10
Hydrocortisone Approved, Vet_approved 50-23-7 5754
11 Anti-Inflammatory Agents
12 Hydrocortisone 17-butyrate 21-propionate
13 Cortisol succinate

Interventional clinical trials:

(show all 12)
# 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 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
4 Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Unknown status NCT02776215 Phase 1 tasimelteon
5 Treatment Strategies for Children With Smith-Magenis Syndrome Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
6 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
7 Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS) Unknown status NCT02180451
8 Melatonin Levels in Smith Magenis Syndrome (SMS) Completed NCT00691574 Not Applicable
9 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
10 Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances Recruiting NCT03154697
11 Natural History Study of Smith-Magenis Syndrome Recruiting NCT00013559
12 Melatonin in Adults With SMS Recruiting NCT03492970 Not Applicable

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:

41
Heart, Testes, Pituitary, Thyroid, Brain, Kidney, Bone

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 814)
# 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
Blast SMS Text Messaging to Facilitate Enrollment for Cleft Lip and Palate Surgery in Zimbabwe. ( 29145544 )
2018
6
Meeting patients where they are: improving outcomes in early chronic kidney disease with tailored self-management support (the CKD-SMS study). ( 30342487 )
2018
7
Development and validation of a speech pathology-specific questionnaire for persons with multiple sclerosis (SMS). ( 30348018 )
2018
8
Impact of community-delivered SMS alerts on dog-owner participation during a mass rabies vaccination campaign, Haiti 2017. ( 29580642 )
2018
9
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
10
Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome. ( 30275311 )
2018
11
Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome. ( 30421967 )
2018
12
Behavior and sleep disturbance in Smith-Magenis syndrome. ( 30557269 )
2018
13
SMS-based smartphone application for disease surveillance has doubled completeness and timeliness in a limited-resource setting - evaluation of a 15-week pilot program in Central African Republic (CAR). ( 30386418 )
2018
14
Quantitative identification of proteins that influence miRNA biogenesis by RNA pull-down-SILAC mass spectrometry (RP-SMS). ( 29890283 )
2018
15
The effect of SMS (text message) reminders on attendance at a community adult mental health service clinic: do SMS reminders really increase attendance? ( 29143910 )
2018
16
Using multi-echo simultaneous multi-slice (SMS) EPI to improve functional MRI of the subcortical nuclei of the basal ganglia at ultra-high field (7T). ( 29208571 )
2018
17
Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU). ( 29210058 )
2018
18
SMS messaging to improve ART adherence: perspectives of pregnant HIV-infected women in Kenya on HIV-related message content. ( 29254362 )
2018
19
The SMS, Phone, and medical Examination sports injury surveillance system is a feasible and valid approach to measuring handball exposure, injury occurrence, and consequences in elite youth sport. ( 29286552 )
2018
20
Beyond mere pill taking: SMS reminders for HIV treatment adherence delivered to mobile phones of clients in a community support network in Australia. ( 29336111 )
2018
21
Reply to the letter regarding our manuscript 'Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU)'. ( 29359410 )
2018
22
Using the Medical Research Council framework for development and evaluation of complex interventions in a low resource setting to develop a theory-based treatment support intervention delivered via SMS text message to improve blood pressure control. ( 29361934 )
2018
23
Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU). ( 29368381 )
2018
24
Does additional support provided through e-mail or SMS in a Web-based Social Marketing program improve children's food consumption? A Randomized Controlled Trial. ( 29452589 )
2018
25
SMS text messaging to measure working time: the design of a time use study among general practitioners. ( 29463312 )
2018
26
Simultaneous multislice triple-echo steady-state (SMS-TESS) T1 , T2 , PD, and off-resonance mapping in the human brain. ( 29468727 )
2018
27
Challenges and solutions implementing an SMS text message-based survey CASI and adherence reminders in an international biomedical HIV PrEP study (MTN 017). ( 29501908 )
2018
28
mCME project V.2.0: randomised controlled trial of a revised SMS-based continuing medical education intervention among HIV clinicians in Vietnam. ( 29527350 )
2018
29
The effect of distance learning via SMS on academic achievement and satisfaction of medical students. ( 29629390 )
2018
30
Effect of a Multi-Site Trial using Short Message Service (SMS) on Infant Feeding Practices and Weight Gain in Low-Income Minorities. ( 29708471 )
2018
31
SMS reminders to improve adherence and cure of tuberculosis patients in Cameroon (TB-SMS Cameroon): a randomised controlled trial. ( 29720146 )
2018
32
Efficacy of an SMS-Based Smoking Intervention Using Message Self-Authorship: A Pilot Study. ( 29755598 )
2018
33
Response to Rejoinder to "Ethical issue in the use of SMS messaging in HIV care and treatment in low- and middle-income countries: case examples from Mozambique". ( 29850824 )
2018
34
The post-trial analysis of the Indian SMS diabetes prevention study shows persistent beneficial effects of lifestyle intervention. ( 29859274 )
2018
35
Design and content validation of a set of SMS to promote seeking of specialized mental health care within the Allillanchu Project. ( 29868227 )
2018
36
Linking at-risk South African girls to sexual violence and reproductive health services: A mixed-methods assessment of a soccer-based HIV prevention program and pilot SMS campaign. ( 29890449 )
2018
37
SMS texts on corruption help Ugandan voters hold elected councillors accountable at the polls. ( 29891688 )
2018
38
Effectiveness of SMS Technology on Timely Community Health Worker Follow-Up for Childhood Malnutrition: A Retrospective Cohort Study in sub-Saharan Africa. ( 29959274 )
2018
39
Clinical Interest and Economic Impact of Preoperative SMS Reminders before Ambulatory Surgery: A Propensity Score Analysis. ( 29968118 )
2018
40
Draft Genome Sequence of Bioactive Strain Streptomyces sp. SMS_SU21, Isolated from Soil Sediment of the Sundarbans Mangrove Ecosystem. ( 29976609 )
2018
41
Costing analysis of an SMS-based intervention to promote HIV self-testing amongst truckers and sex workers in Kenya. ( 29979704 )
2018
42
Improving medication adherence with adjuvant aromatase inhibitor in women with breast cancer: study protocol of a randomised controlled trial to evaluate the effect of short message service (SMS) reminder. ( 29986672 )
2018
43
Rejoinder to "Ethical issues in the use of SMS messaging in HIV care and treatment in low-and-middle-income countries". ( 30010943 )
2018
44
Effectiveness of the eCARE Programme: A Short Message Service (SMS) for Asthma Monitoring. ( 30019070 )
2018
45
Does SMS-Support Make a Difference? Effectiveness of a Two-Week Online-Training to Overcome Procrastination. A Randomized Controlled Trial. ( 30026713 )
2018
46
Can a bothersome course of pelvic pain from mid-pregnancy to birth be predicted? A Norwegian prospective longitudinal SMS-Track study. ( 30049694 )
2018
47
Tertiary education regarding stillbirth for student midwives: The tears 4 SMS project. ( 30097322 )
2018
48
Femtosecond-induced spiral micro-structured SMS fiber structure for refractive index measurement. ( 30119550 )
2018
49
Neurosurgery in SMS Medical College -From bare necessity to excellence. ( 30233020 )
2018
50
Assessing the variation in workload among general practitioners in urban and rural areas: An analysis based on SMS time sampling data. ( 30238625 )
2018

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

6 (show all 44)
# 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.1992G> A (p.Pro664=) single nucleotide variant Benign rs8067439 GRCh37 Chromosome 17, 17698254: 17698254
11 RAI1 NM_030665.3(RAI1): c.1992G> A (p.Pro664=) single nucleotide variant Benign rs8067439 GRCh38 Chromosome 17, 17794940: 17794940
12 RAI1 NM_030665.3(RAI1): c.269G> C (p.Gly90Ala) single nucleotide variant Benign rs3803763 GRCh37 Chromosome 17, 17696531: 17696531
13 RAI1 NM_030665.3(RAI1): c.269G> C (p.Gly90Ala) single nucleotide variant Benign rs3803763 GRCh38 Chromosome 17, 17793217: 17793217
14 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh37 Chromosome 17, 17696674: 17696674
15 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh38 Chromosome 17, 17793360: 17793360
16 RAI1 NM_030665.3(RAI1): c.4311T> C (p.Pro1437=) single nucleotide variant Benign rs4925112 GRCh37 Chromosome 17, 17700573: 17700573
17 RAI1 NM_030665.3(RAI1): c.4311T> C (p.Pro1437=) single nucleotide variant Benign rs4925112 GRCh38 Chromosome 17, 17797259: 17797259
18 RAI1 NM_030665.3(RAI1): c.4512G> T (p.Leu1504=) single nucleotide variant Benign rs117995220 GRCh37 Chromosome 17, 17700774: 17700774
19 RAI1 NM_030665.3(RAI1): c.4512G> T (p.Leu1504=) single nucleotide variant Benign rs117995220 GRCh38 Chromosome 17, 17797460: 17797460
20 RAI1 NM_030665.3(RAI1): c.4530C> T (p.Pro1510=) single nucleotide variant Benign rs35686634 GRCh37 Chromosome 17, 17700792: 17700792
21 RAI1 NM_030665.3(RAI1): c.4530C> T (p.Pro1510=) single nucleotide variant Benign rs35686634 GRCh38 Chromosome 17, 17797478: 17797478
22 RAI1 NM_030665.3(RAI1): c.493C> A (p.Pro165Thr) single nucleotide variant Benign rs11649804 GRCh37 Chromosome 17, 17696755: 17696755
23 RAI1 NM_030665.3(RAI1): c.493C> A (p.Pro165Thr) single nucleotide variant Benign rs11649804 GRCh38 Chromosome 17, 17793441: 17793441
24 RAI1 NM_030665.3(RAI1): c.5601T> C (p.Ile1867=) single nucleotide variant Benign rs3818717 GRCh37 Chromosome 17, 17707105: 17707105
25 RAI1 NM_030665.3(RAI1): c.5601T> C (p.Ile1867=) single nucleotide variant Benign rs3818717 GRCh38 Chromosome 17, 17803791: 17803791
26 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh37 Chromosome 17, 17698535: 17698535
27 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh38 Chromosome 17, 17795221: 17795221
28 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh37 Chromosome 17, 17700940: 17700940
29 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh38 Chromosome 17, 17797626: 17797626
30 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh37 Chromosome 17, 17699845: 17699845
31 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh38 Chromosome 17, 17796531: 17796531
32 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh37 Chromosome 17, 17699543: 17699543
33 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh38 Chromosome 17, 17796229: 17796229
34 subset of 866 genes:BRCA1; COL1A1; EFTUD2; HNF1B; KANSL1; NF1; NOG; RAI1; RNF135; SOX9; TBX2; TBX4 NC_000017.10: g.17711738_217748468del200036731 deletion Pathogenic GRCh37 Chromosome 17, 17711738: 217748468
35 RAI1 NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs) deletion Pathogenic rs886044681 GRCh37 Chromosome 17, 17699358: 17699358
36 RAI1 NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs) deletion Pathogenic rs886044681 GRCh38 Chromosome 17, 17796044: 17796044
37 RAI1 NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance rs1057519065 GRCh37 Chromosome 17, 17698010: 17698010
38 RAI1 NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn) single nucleotide variant Uncertain significance rs1057519065 GRCh38 Chromosome 17, 17794696: 17794696
39 RAI1 NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs) deletion Pathogenic rs1135401792 GRCh38 Chromosome 17, 17795914: 17795917
40 RAI1 NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs) deletion Pathogenic rs1135401792 GRCh37 Chromosome 17, 17699228: 17699231
41 RAI1 NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs) duplication Pathogenic GRCh37 Chromosome 17, 17700935: 17700935
42 RAI1 NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs) duplication Pathogenic GRCh38 Chromosome 17, 17797621: 17797621
43 RAI1 NM_030665.3(RAI1): c.2469_2470insG (p.Leu825Alafs) insertion Pathogenic GRCh37 Chromosome 17, 17698731: 17698732
44 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

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

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
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
Content
Loading form....