SMS
MCID: SMT008
MIFTS: 52

Smith-Magenis Syndrome (SMS) malady

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

Aliases & Classifications for Smith-Magenis Syndrome

Aliases & Descriptions for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 54 12 23 50 24 25 56 66 13 52 14 69
Sms 50 25 66
Chromosome 17p11.2 Deletion Syndrome 12 50
Chromosome 17p Deletion Syndrome 25 69
17p11.2 Microdeletion Syndrome 12 56
Smith Magenis Syndrome 71 29
17p11.2 Monosomy 25 69
Deletion 17p Syndrome 25
Partial Monosomy 17p 25
Del(17)(p11.2) 24
17p- Syndrome 25
P11.2 23
Del 23
17 23

Characteristics:

Orphanet epidemiological data:

56
smith-magenis syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
smith-magenis syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 182290
Disease Ontology 12 DOID:0060768
ICD10 33 Q93.5
Orphanet 56 ORPHA819
ICD10 via Orphanet 34 Q93.5
MESH via Orphanet 43 D058496
UMLS via Orphanet 70 C0795864

Summaries for Smith-Magenis Syndrome

NIH Rare Diseases : 50 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 deletion of genetic material from a specific region of chromosome 17. although this region contains multiple genes, researchers believe that the loss of one particular gene, rai1, in each cell is responsible for most of the characteristic features of the condition. smith-magenis syndrome is not typically inherited, but results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. last updated: 8/22/2014

MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to trisomy 17 mosaicism and spinocerebellar ataxia 17, 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 Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye.

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 : 66 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 : 71 Smith–Magenis Syndrome (SMS) is a genetic disorder affecting the whole body such as the brain.... 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 88)
id Related Disease Score Top Affiliating Genes
1 trisomy 17 mosaicism 12.2
2 spinocerebellar ataxia 17 12.1
3 retinitis pigmentosa 17 12.1
4 sm-ahnmd 12.0
5 ciliary dyskinesia, primary, 17 12.0
6 amyotrophic lateral sclerosis 17 12.0
7 parkinson disease 17 12.0
8 spinocerebellar ataxia, autosomal recessive 17 12.0
9 cardiomyopathy, hypertrophic, 17 12.0
10 deafness, autosomal dominant 17 12.0
11 bardet-biedl syndrome 17 12.0
12 joubert syndrome 17 12.0
13 combined oxidative phosphorylation deficiency 17 12.0
14 leber congenital amaurosis 17 12.0
15 inflammatory bowel disease 17, protection against 12.0
16 immunodeficiency 17, cd3 gamma deficient 11.9
17 epileptic encephalopathy, early infantile, 17 11.9
18 bleeding disorder, platelet-type, 17 11.9
19 schizophrenia 17 11.9
20 myasthenic syndrome, congenital, 17 11.9
21 autism susceptibility 17 11.9
22 cataract 17, multiple types 11.9
23 microcephaly 17, primary, autosomal recessive 11.9
24 hypogonadotropic hypogonadism 17 with or without anosmia 11.9
25 spastic paraplegia 17 11.9
26 spermatogenic failure 17 11.9
27 ring chromosome 17 11.9
28 alzheimer disease 17 11.8
29 deafness, autosomal recessive 17 11.7
30 mosaic trisomy 17 11.7
31 mental retardation, x-linked, snyder-robinson type 11.7
32 mental retardation, autosomal dominant 17 11.7
33 mental retardation, x-linked, syndromic 17 11.7
34 diabetes mellitus, insulin-dependent, 17 11.7
35 cone-rod dystrophy 17 11.7
36 deafness, autosomal dominant nonsyndromic sensorineural 17 11.7
37 dystonia 17, torsion, autosomal recessive 11.6
38 silver spastic paraplegia syndrome 11.5
39 stiff-person syndrome 11.5
40 16p11.2 deletion syndrome 11.5
41 systemic mastocytosis 11.4
42 chromosome 17p deletion 11.1
43 corneal dystrophy, congenital stromal 11.0
44 extratemporal epilepsy 11.0
45 hand dermatosis 11.0
46 16p11.2 duplication 10.8
47 sarcoma, synovial 10.8
48 chromosome 16p11.2 duplication syndrome 10.7
49 chromosome 16p11.2 deletion syndrome, 220-kb body mass index quantitative trait locus 16, included 10.7
50 chromosome 16p11.2 deletion syndrome, 593-kb autism, susceptibility to, 14a, included 10.7

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 by clinical synopsis from OMIM:

182290

Clinical features from OMIM:

182290

Human phenotypes related to Smith-Magenis Syndrome:

56 32 (show top 50) (show all 99)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 joint stiffness 56 32 Occasional (29-5%) HP:0001387
4 hyperacusis 56 32 Frequent (79-30%) HP:0010780
5 hypertelorism 56 32 Frequent (79-30%) HP:0000316
6 obesity 56 32 Very frequent (99-80%) HP:0001513
7 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
8 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
9 precocious puberty 56 32 Occasional (29-5%) HP:0000826
10 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
11 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
12 gait disturbance 56 32 Frequent (79-30%) HP:0001288
13 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
14 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
15 sleep disturbance 56 32 Very frequent (99-80%) HP:0002360
16 scoliosis 56 32 Frequent (79-30%) HP:0002650
17 self-injurious behavior 56 32 Very frequent (99-80%) HP:0100716
18 large face 56 32 Very frequent (99-80%) HP:0100729
19 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
20 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
21 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
22 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
23 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
24 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
25 pes planus 56 32 Frequent (79-30%) HP:0001763
26 short nose 56 32 Frequent (79-30%) HP:0003196
27 microcephaly 56 32 Occasional (29-5%) HP:0000252
28 anteverted nares 56 32 Frequent (79-30%) HP:0000463
29 short stature 56 32 Frequent (79-30%) HP:0004322
30 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
31 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
32 stereotypy 56 32 Very frequent (99-80%) HP:0000733
33 delayed puberty 56 32 Occasional (29-5%) HP:0000823
34 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
35 hypertriglyceridemia 56 32 Frequent (79-30%) HP:0002155
36 cleft palate 56 32 Occasional (29-5%) HP:0000175
37 micrognathia 56 32 Frequent (79-30%) HP:0000347
38 strabismus 56 32 Frequent (79-30%) HP:0000486
39 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
40 attention deficit hyperactivity disorder 56 32 Very frequent (99-80%) HP:0007018
41 anxiety 56 32 Very frequent (99-80%) HP:0000739
42 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
43 broad forehead 56 32 Very frequent (99-80%) HP:0000337
44 myopia 56 32 Frequent (79-30%) HP:0000545
45 short philtrum 56 32 Frequent (79-30%) HP:0000322
46 deeply set eye 56 32 Very frequent (99-80%) HP:0000490
47 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
48 retinal detachment 56 32 Occasional (29-5%) HP:0000541
49 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
50 open mouth 56 32 Frequent (79-30%) HP:0000194

UMLS symptoms related to Smith-Magenis Syndrome:


hoarseness, sleep disturbances

Drugs & Therapeutics for Smith-Magenis Syndrome

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
2 Protective Agents Phase 3,Phase 1
3 Antioxidants Phase 3,Phase 1
4 Central Nervous System Depressants Phase 3,Phase 1
5
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
6 Cortisol succinate
7 Hydrocortisone 17-butyrate 21-propionate
8 Hydrocortisone acetate
9 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS Recruiting NCT02231008 Phase 2, Phase 3
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3
3 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1
4 Treatment Strategies for Children With Smith-Magenis Syndrome Recruiting NCT00506259 Phase 1
5 Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Recruiting NCT02776215 Phase 1
6 Melatonin Levels in Smith Magenis Syndrome (SMS) Completed NCT00691574
7 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
8 Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances Recruiting NCT03154697
9 Natural History Study of Smith-Magenis Syndrome Recruiting NCT00013559
10 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
11 Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS) Active, not recruiting NCT02180451

Search NIH Clinical Center for Smith-Magenis Syndrome

Genetic Tests for Smith-Magenis Syndrome

Genetic tests related to Smith-Magenis Syndrome:

id Genetic test Affiliating Genes
1 Smith-Magenis Syndrome 29 24 RAI1

Anatomical Context for Smith-Magenis Syndrome

MalaCards organs/tissues related to Smith-Magenis Syndrome:

39
Brain, Heart, Eye, Kidney, Thyroid, B Cells

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 185)
id Title Authors Year
1
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. ( 28286158 )
2017
2
Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome. ( 28500573 )
2017
3
Moyamoya in a Patient with Smith-Magenis Syndrome. ( 28380489 )
2017
4
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. ( 27683195 )
2017
5
Auditory Phenotype of Smith-Magenis Syndrome. ( 28384694 )
2017
6
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene. ( 27633572 )
2016
7
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ( 27311559 )
2016
8
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. ( 27693255 )
2016
9
Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention. ( 27743421 )
2016
10
Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome. ( 26983920 )
2016
11
Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects. ( 28040141 )
2016
12
Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature. ( 27494126 )
2016
13
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. ( 27386852 )
2016
14
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. ( 26817868 )
2016
15
Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome. ( 27495174 )
2016
16
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. ( 26384114 )
2015
17
Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man. ( 25434872 )
2015
18
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature. ( 25929900 )
2015
19
Smith-Magenis Syndrome: Face Speaks. ( 26676648 )
2015
20
Dermatologic Features of Smith-Magenis Syndrome. ( 25684097 )
2015
21
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. ( 26336863 )
2015
22
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. ( 26323055 )
2015
23
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. ( 24788350 )
2014
24
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). ( 25036569 )
2014
25
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions. ( 24715852 )
2014
26
Periventricular nodular heterotopia in Smith-Magenis syndrome. ( 25257626 )
2014
27
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
28
Daytime somnolence in an adult with Smith-Magenis syndrome. ( 23687097 )
2013
29
Smith-Magenis syndrome. ( 23622179 )
2013
30
The nature of social preference and interactions in Smith-Magenis syndrome. ( 24120292 )
2013
31
Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome. ( 24032296 )
2013
32
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. ( 23703963 )
2013
33
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. ( 22672270 )
2012
34
An indirect examination of the function of problem behavior associated with fragile X syndrome and Smith-Magenis syndrome. ( 21442360 )
2012
35
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. ( 21897445 )
2012
36
Alteration of the circadian clock in children with Smith-Magenis syndrome. ( 22162479 )
2012
37
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. ( 23255863 )
2012
38
Analysis of the sensory profile in children with Smith-Magenis syndrome. ( 21599572 )
2012
39
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
40
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. ( 22911601 )
2012
41
Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. ( 22724898 )
2012
42
Cognitive functioning in children and adults with Smith-Magenis syndrome. ( 22579991 )
2012
43
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. ( 23028815 )
2012
44
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. ( 21480478 )
2011
45
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. ( 21739587 )
2011
46
Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues. ( 21465657 )
2011
47
Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. ( 21199049 )
2011
48
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. ( 21614983 )
2011
49
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. ( 22057962 )
2011
50
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. ( 21857958 )
2011

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

6 (show all 15)
id 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.4685A> G (p.Gln1562Arg) single nucleotide variant Pathogenic rs104894634 GRCh37 Chromosome 17, 17700947: 17700947
6 RAI1 RAI1, 1-BP DEL, 3801C deletion Pathogenic
7 RAI1 RAI1, 19-BP DEL deletion Pathogenic
8 RAI1 NM_030665.3(RAI1): c.412delG (p.Val138Trpfs) deletion Pathogenic rs398124419 GRCh37 Chromosome 17, 17696674: 17696674
9 RAI1 NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter) single nucleotide variant Pathogenic rs527236033 GRCh37 Chromosome 17, 17698535: 17698535
10 RAI1 NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter) single nucleotide variant Pathogenic rs727504119 GRCh37 Chromosome 17, 17700940: 17700940
11 RAI1 NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter) single nucleotide variant Pathogenic rs727504118 GRCh37 Chromosome 17, 17699845: 17699845
12 chr17 deletion Pathogenic
13 RAI1 NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter) single nucleotide variant Pathogenic rs376044849 GRCh37 Chromosome 17, 17699543: 17699543
14 subset of 874 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

Copy number variations for Smith-Magenis Syndrome from CNVD:

7 (show all 17)
id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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