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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 52 11 23 48 24 25 54 70 12 50 13 68
Sms 48 25 70
Chromosome 17p11.2 Deletion Syndrome 11 48
Chromosome 17p Deletion Syndrome 25 68
17p11.2 Microdeletion Syndrome 11 54
Smith Magenis Syndrome 71 27
17p11.2 Monosomy 25 68
 
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:

54
smith-magenis syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
smith-magenis syndrome:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM52 182290
Disease Ontology11 DOID:0060768
ICD1030 Q93.5
Orphanet54 ORPHA819
ICD10 via Orphanet31 Q93.5
MESH via Orphanet40 D058496
UMLS via Orphanet69 C0795864

Summaries for Smith-Magenis Syndrome

About this section
NIH Rare Diseases:48 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 hoarseness, hoarseness and sleep disturbances. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1). Affiliated tissues include brain, heart and thyroid.

UniProtKB/Swiss-Prot:70 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: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.

Disease Ontology:11 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.

Wikipedia:71 Smith–Magenis Syndrome (SMS) is a genetic disorder affecting the whole body such as the brain.... more...

Description from OMIM:52 182290

GeneReviews for NBK1310

Related Diseases for Smith-Magenis Syndrome

About this section

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1trisomy 17 mosaicism12.2
2spinocerebellar ataxia 1712.1
3retinitis pigmentosa 1712.1
4sm-ahnmd12.0
5ciliary dyskinesia, primary, 1712.0
6amyotrophic lateral sclerosis 1712.0
7spinocerebellar ataxia, autosomal recessive 1712.0
8parkinson disease 1712.0
9cardiomyopathy, hypertrophic, 1712.0
10deafness, autosomal dominant 1712.0
11inflammatory bowel disease 17, protection against12.0
12bardet-biedl syndrome 1712.0
13joubert syndrome 1712.0
14leber congenital amaurosis 1712.0
15combined oxidative phosphorylation deficiency 1712.0
16schizophrenia 1711.9
17bleeding disorder, platelet-type, 1711.9
18myasthenic syndrome, congenital, 1711.9
19immunodeficiency 17, cd3 gamma deficient11.9
20epileptic encephalopathy, early infantile, 1711.9
21autism susceptibility 1711.9
22cataract 17, multiple types11.9
23hypogonadotropic hypogonadism 17 with or without anosmia11.9
24microcephaly 17, primary, autosomal recessive11.9
25spastic paraplegia 1711.9
26spermatogenic failure 1711.9
27ring chromosome 1711.9
28alzheimer disease 1711.8
29deafness, autosomal recessive 1711.7
30mosaic trisomy 1711.7
31mental retardation, x-linked, snyder-robinson type11.7
32diabetes mellitus, insulin-dependent, 1711.7
33cone-rod dystrophy 1711.7
34mental retardation, autosomal dominant 1711.7
35mental retardation, x-linked, syndromic 1711.7
36deafness, autosomal dominant nonsyndromic sensorineural 1711.7
37dystonia 17, torsion, autosomal recessive11.6
38silver spastic paraplegia syndrome11.5
39stiff-person syndrome11.5
4016p11.2 deletion syndrome11.5
41systemic mastocytosis11.4
42chromosome 17p deletion11.1
43corneal dystrophy, congenital stromal11.0
44extratemporal epilepsy11.0
45hand dermatosis11.0
46sarcoma, synovial10.8
4716p11.2 duplication10.8
48chromosome 16p11.2 deletion syndrome, 220-kb body mass index quantitative trait locus 16, included10.7
49chromosome 16p11.2 deletion syndrome, 593-kb autism, susceptibility to, 14a, included10.7
50chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included10.7

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



Diseases related to smith-magenis syndrome

Symptoms & Phenotypes for Smith-Magenis Syndrome

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Symptoms by clinical synopsis from OMIM:

182290

Clinical features from OMIM:

182290

Human phenotypes related to Smith-Magenis Syndrome:

 54 64 (show all 99)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ureter64 54 Occasional (29-5%) HP:0000069
2 cleft palate64 54 Occasional (29-5%) HP:0000175
3 open mouth64 54 Frequent (79-30%) HP:0000194
4 cleft upper lip64 54 Occasional (29-5%) HP:0000204
5 brachycephaly64 54 Very frequent (99-80%) HP:0000248
6 microcephaly64 54 Occasional (29-5%) HP:0000252
7 mandibular prognathia64 54 Frequent (79-30%) HP:0000303
8 hypertelorism64 54 Frequent (79-30%) HP:0000316
9 short philtrum64 54 Frequent (79-30%) HP:0000322
10 broad forehead64 54 Very frequent (99-80%) HP:0000337
11 micrognathia64 54 Frequent (79-30%) HP:0000347
12 chronic otitis media64 54 Frequent (79-30%) HP:0000389
13 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
14 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
15 anteverted nares64 54 Frequent (79-30%) HP:0000463
16 microcornea64 54 Frequent (79-30%) HP:0000482
17 strabismus64 54 Frequent (79-30%) HP:0000486
18 deeply set eye64 54 Very frequent (99-80%) HP:0000490
19 retinal detachment64 54 Occasional (29-5%) HP:0000541
20 myopia64 54 Frequent (79-30%) HP:0000545
21 upslanted palpebral fissure64 54 Very frequent (99-80%) HP:0000582
22 synophrys64 54 Very frequent (99-80%) HP:0000664
23 taurodontia64 54 Very frequent (99-80%) HP:0000679
24 delayed eruption of primary teeth64 54 Very frequent (99-80%) HP:0000680
25 stereotypy64 54 Very frequent (99-80%) HP:0000733
26 anxiety64 54 Very frequent (99-80%) HP:0000739
27 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
28 hypothyroidism64 54 Occasional (29-5%) HP:0000821
29 delayed puberty64 54 Occasional (29-5%) HP:0000823
30 precocious puberty64 54 Occasional (29-5%) HP:0000826
31 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
32 hand polydactyly64 54 Occasional (29-5%) HP:0001161
33 intellectual disability64 54 Very frequent (99-80%) HP:0001249
34 seizures64 54 Occasional (29-5%) HP:0001250
35 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
36 global developmental delay64 54 Very frequent (99-80%) HP:0001263
37 hyporeflexia64 54 Very frequent (99-80%) HP:0001265
38 gait disturbance64 54 Frequent (79-30%) HP:0001288
39 joint stiffness64 54 Occasional (29-5%) HP:0001387
40 obesity64 54 Very frequent (99-80%) HP:0001513
41 failure to thrive in infancy64 54 Frequent (79-30%) HP:0001531
42 decreased fetal movement64 54 Frequent (79-30%) HP:0001558
43 hoarse voice64 54 Very frequent (99-80%) HP:0001609
44 pes planus64 54 Frequent (79-30%) HP:0001763
45 toe syndactyly64 54 Frequent (79-30%) HP:0001770
46 frontal bossing64 54 Very frequent (99-80%) HP:0002007
47 constipation64 54 Frequent (79-30%) HP:0002019
48 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
49 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
50 hypertriglyceridemia64 54 Frequent (79-30%) HP:0002155
51 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
52 eeg abnormality64 54 Frequent (79-30%) HP:0002353
53 sleep disturbance64 54 Very frequent (99-80%) HP:0002360
54 malformation of the heart and great vessels54 Frequent (79-30%)
55 scoliosis64 54 Frequent (79-30%) HP:0002650
56 hypercholesterolemia64 54 Frequent (79-30%) HP:0003124
57 short nose64 54 Frequent (79-30%) HP:0003196
58 abnormal form of the vertebral bodies64 54 Frequent (79-30%) HP:0003312
59 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
60 short stature64 54 Frequent (79-30%) HP:0004322
61 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
62 abnormality of the tracheobronchial system64 54 Very frequent (99-80%) HP:0005607
63 corticospinal tract hypoplasia64 54 Very frequent (99-80%) HP:0007016
64 attention deficit hyperactivity disorder64 54 Very frequent (99-80%) HP:0007018
65 impaired pain sensation64 54 Frequent (79-30%) HP:0007328
66 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
67 renal hypoplasia/aplasia64 54 Occasional (29-5%) HP:0008678
68 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
69 peripheral neuropathy54 Frequent (79-30%)
70 hyperacusis64 54 Frequent (79-30%) HP:0010780
71 tented upper lip vermilion64 54 Very frequent (99-80%) HP:0010804
72 midface retrusion64 54 Very frequent (99-80%) HP:0011800
73 abnormal localization of kidney64 54 Occasional (29-5%) HP:0100542
74 self-injurious behavior64 54 Very frequent (99-80%) HP:0100716
75 large face64 54 Very frequent (99-80%) HP:0100729
76 self-mutilation64 HP:0000742
77 hyperactivity64 HP:0000752
78 abnormality of the urinary system64 HP:0000079
79 abnormality of the teeth64 HP:0000164
80 oral cleft64 HP:0000202
81 velopharyngeal insufficiency64 HP:0000220
82 malar flattening64 HP:0000272
83 broad face64 HP:0000283
84 abnormality of the outer ear64 HP:0000356
85 hearing impairment64 HP:0000365
86 abnormality of the thyroid gland64 HP:0000820
87 broad palm64 HP:0001169
88 areflexia64 HP:0001284
89 generalized hypotonia64 HP:0001290
90 abnormality of the larynx64 HP:0001600
91 abnormal heart morphology64 HP:0001627
92 abnormality of the immune system64 HP:0002715
93 abnormality of the forearm64 HP:0002973
94 short palm64 HP:0004279
95 morphological abnormality of the middle ear64 HP:0008609
96 everted upper lip vermilion64 HP:0010803
97 head-banging64 HP:0012168
98 abnormal renal morphology64 HP:0012210
99 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Smith-Magenis Syndrome:


hoarseness, sleep disturbances

Drugs & Therapeutics for Smith-Magenis Syndrome

About this section

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Melatoninapproved, nutraceutical, vet_approvedPhase 3, Phase 126873-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
2AntioxidantsPhase 3, Phase 13050
3Protective AgentsPhase 3, Phase 17443
4Central Nervous System DepressantsPhase 3, Phase 113403
5
Hydrocortisoneapproved, vet_approved66750-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
6Hydrocortisone acetate667
7Hydrocortisone 17-butyrate 21-propionate667
8Anti-Inflammatory Agents10729
9Cortisol succinate667

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMSRecruitingNCT02231008Phase 2, Phase 3
2Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment DisabilitiesActive, not recruitingNCT01906866Phase 3
3Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep DisturbancesCompletedNCT01903681Phase 1
4Treatment Strategies for Children With Smith-Magenis SyndromeRecruitingNCT00506259Phase 1
5Study of the Pharmacokinetics and Safety of Tasimelteon in Children and AdolescentsRecruitingNCT02776215Phase 1
6Melatonin Levels in Smith Magenis Syndrome (SMS)CompletedNCT00691574
7Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
8Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep DisturbancesRecruitingNCT03154697
9Natural History Study of Smith-Magenis SyndromeRecruitingNCT00013559
10Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
11Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)Active, not recruitingNCT02180451

Search NIH Clinical Center for Smith-Magenis Syndrome

Genetic Tests for Smith-Magenis Syndrome

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Genetic tests related to Smith-Magenis Syndrome:

id Genetic test Affiliating Genes
1 Smith-Magenis Syndrome27 24 RAI1

Anatomical Context for Smith-Magenis Syndrome

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MalaCards organs/tissues related to Smith-Magenis Syndrome:

36
Brain, Heart, Thyroid, Kidney, Eye, B cells

Publications for Smith-Magenis Syndrome

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Articles related to Smith-Magenis Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Smith-Magenis Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1RAI1NM_ 030665.3(RAI1): c.2273G> A (p.Trp758Ter)SNVPathogenicrs527236033GRCh37Chr 17, 17698535: 17698535
2RAI1NM_ 030665.3(RAI1): c.3583A> T (p.Lys1195Ter)SNVPathogenicrs727504118GRCh37Chr 17, 17699845: 17699845
3RAI1NM_ 030665.3(RAI1): c.4678C> T (p.Arg1560Ter)SNVPathogenicrs727504119GRCh37Chr 17, 17700940: 17700940
4chr17: g.(AC027266_ AL353996)_ (AC015726-AC087393)deldeletionPathogenic
5RAI1NM_ 030665.3(RAI1): c.3281C> A (p.Ser1094Ter)SNVPathogenicrs376044849GRCh37Chr 17, 17699543: 17699543
6subset of 874 genes:BRCA1; COL1A1; EFTUD2; HNF1B; KANSL1; NF1; NOG; RAI1; RNF135; SOX9; TBX4NC_ 000017.10: g.17711738_ 217748468del200036731deletionPathogenicGRCh37Chr 17, 17711738: 217748468
7RAI1NM_ 030665.3(RAI1): c.3096delG (p.Gln1035Argfs)deletionPathogenicrs886044681GRCh37Chr 17, 17699358: 17699358
8RAI1RAI1, 1-BP DEL, 4929CdeletionPathogenic
9RAI1RAI1, 1-BP DEL, 1308CdeletionPathogenic
10RAI1RAI1, 29-BP DELdeletionPathogenic
11RAI1NM_ 030665.3(RAI1): c.5423G> A (p.Ser1808Asn)SNVPathogenicrs104894633GRCh37Chr 17, 17701685: 17701685
12RAI1NM_ 030665.3(RAI1): c.4685A> G (p.Gln1562Arg)SNVPathogenicrs104894634GRCh37Chr 17, 17700947: 17700947
13RAI1RAI1, 1-BP DEL, 3801CdeletionPathogenic
14RAI1RAI1, 19-BP DELdeletionPathogenic
15RAI1NM_ 030665.3(RAI1): c.412delG (p.Val138Trpfs)deletionPathogenicrs398124419GRCh37Chr 17, 17696674: 17696674

Copy number variations for Smith-Magenis Syndrome from CNVD:

6 (show all 17)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
121481171590000022100000DeletionRAI1Smith-Magenis syndrome
2107514171590000022100000DeletionSmith-Magenis syndrome
3107515171590000022100000DeletionSmith-Magenis syndrome
4107516171590000022100000DeletionRAI1Smith-Magenis syndrome
5107517171590000022100000DeletionRAI1Smith-Magenis syndrome
6107518171590000022100000DeletionRAI1Smith-Magenis syndrome
7107545171590000022100000MicrodeletionSmith-Magenis syndrome
8107546171590000022100000MicrodeletionSmith-Magenis syndrome
9107547171590000022100000MicrodeletionSmith-Magenis syndrome
10107548171590000022100000MicrodeletionSmith-Magenis syndrome
11107549171590000022100000MicrodeletionSmith-Magenis syndrome
12107577171600000022200000DeletionSmith-Magenis syndrome
13107878171781692317860898Copy numberLRRC48Smith-Magenis syndrome
14107924171806966018088913Copy numberLLGL1Smith-Magenis syndrome
15108853172320000028800000DeletionSmith-Magenis syndrome
16160842221630000024300000MicrodeletionSmith-Magenis syndrome
1720860861752551117655490Copy numberRAI1Smith-Magenis syndrome

Expression for genes affiliated with Smith-Magenis Syndrome

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

Pathways for genes affiliated with Smith-Magenis Syndrome

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GO Terms for genes affiliated with Smith-Magenis Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of TOR signalingGO:00320089.8FLCN, SMCR8

Sources for Smith-Magenis Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet