MCID: SMT008
MIFTS: 49

Smith-Magenis Syndrome malady

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

Aliases & Classifications for Smith-Magenis Syndrome

About this section
Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 69Wikipedia, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 50 22 46 23 24 52 68 12 48 66
Sms 46 24 68
Chromosome 17p Deletion Syndrome 24 66
Smith Magenis Syndrome 69 25
17p11.2 Monosomy 24 66
Chromosome 17p11.2 Deletion Syndrome 46
17p11.2 Microdeletion Syndrome 52
Deletion 17p Syndrome 24
 
Partial Monosomy 17p 24
Chromosome Deletion 66
Del(17)(p11.2) 23
17p- Syndrome 24
P11.2 22
Del 22
17 22

Characteristics:

Orphanet epidemiological data:

52
smith-magenis syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
smith-magenis syndrome:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

OMIM50 182290
Orphanet52 ORPHA819
ICD10 via Orphanet29 Q93.5
MESH via Orphanet38 D058496
UMLS via Orphanet67 C0795864

Summaries for Smith-Magenis Syndrome

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NIH Rare Diseases:46 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 spinocerebellar ataxia 17 and trisomy 17 mosaicism, and has symptoms including malar flattening, broad forehead and deeply set eye. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1). Affiliated tissues include heart, tongue and testes.

Genetics Home Reference:24 Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 182290

GeneReviews summary for NBK1310

Related Diseases for Smith-Magenis Syndrome

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 1712.2
2trisomy 17 mosaicism12.2
3sm-ahnmd12.1
4retinitis pigmentosa 1712.1
5spastic paraplegia 1712.0
6amyotrophic lateral sclerosis 1712.0
7spinocerebellar ataxia, autosomal recessive 1712.0
8combined oxidative phosphorylation deficiency 1712.0
9ciliary dyskinesia, primary, 1712.0
10ring chromosome 1712.0
11schizophrenia 1712.0
12joubert syndrome 1712.0
13mental retardation, autosomal dominant 1712.0
14immunodeficiency 17, cd3 gamma deficient12.0
15parkinson disease 1712.0
16epileptic encephalopathy, early infantile, 1712.0
17inflammatory bowel disease 17, protection against12.0
18bardet-biedl syndrome 1712.0
19leber congenital amaurosis 1712.0
20bleeding disorder, platelet-type, 1712.0
21autism susceptibility 1712.0
22cardiomyopathy, hypertrophic, 1712.0
23myasthenic syndrome, congenital, 1711.9
24deafness, autosomal dominant 1711.9
25hypogonadotropic hypogonadism 17 with or without anosmia11.9
26cataract 17, multiple types11.9
27mosaic trisomy 1711.9
28cone-rod dystrophy 1711.8
29alzheimer disease 1711.8
30mental retardation, x-linked, syndromic 1711.8
31deafness, autosomal dominant nonsyndromic sensorineural 1711.8
32deafness, autosomal recessive 1711.8
33diabetes mellitus, insulin-dependent, 1711.7
34dystonia 17, torsion, autosomal recessive11.7
35snyder-robinson syndrome11.6
36stiff-person syndrome11.3
3716p11.2 deletion syndrome11.2
38mental retardation, x-linked, snyder-robinson type11.2
39chromosome 17p deletion11.2
40osteoporosis11.1
41corneal dystrophy, congenital stromal11.0
42extratemporal epilepsy11.0
43hand dermatosis11.0
44steatocystoma multiplex10.9
45singleton merten syndrome10.9
46silver-russell syndrome10.9
47chromosome 16p11.2 deletion syndrome, 220-kb body mass index quantitative trait locus 16, included10.9
48chromosome 16p11.2 deletion syndrome, 593-kb autism, susceptibility to, 14a, included10.9
49chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included10.9
50chromosome 16p11.2 duplication syndrome10.9

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



Diseases related to smith-magenis syndrome

Symptoms for Smith-Magenis Syndrome

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Symptoms by clinical synopsis from OMIM:

182290

Clinical features from OMIM:

182290

Symptoms:

 52 (show all 75)
  • abnormality of the ureter
  • cleft palate
  • open mouth
  • cleft upper lip
  • brachycephaly
  • microcephaly
  • mandibular prognathia
  • hypertelorism
  • short philtrum
  • broad forehead
  • micrognathia
  • chronic otitis media
  • conductive hearing impairment
  • wide nasal bridge
  • anteverted nares
  • microcornea
  • strabismus
  • deeply set eye
  • retinal detachment
  • myopia
  • upslanted palpebral fissure
  • synophrys
  • taurodontia
  • delayed eruption of primary teeth
  • stereotypic behavior
  • anxiety
  • delayed speech and language development
  • hypothyroidism
  • delayed puberty
  • precocious puberty
  • brachydactyly syndrome
  • hand polydactyly
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • hyporeflexia
  • gait disturbance
  • joint stiffness
  • obesity
  • failure to thrive in infancy
  • decreased fetal movement
  • hoarse voice
  • pes planus
  • toe syndactyly
  • frontal bossing
  • constipation
  • gastroesophageal reflux
  • ventriculomegaly
  • hypertriglyceridemia
  • neurological speech impairment
  • eeg abnormality
  • sleep disturbance
  • malformation of the heart and great vessels
  • scoliosis
  • hypercholesterolemia
  • short nose
  • abnormal form of the vertebral bodies
  • clinodactyly of the 5th finger
  • short stature
  • depressed nasal bridge
  • abnormality of the tracheobronchial system
  • corticospinal tract hypoplasia
  • attention deficit hyperactivity disorder
  • impaired pain sensation
  • aplasia/hypoplasia of the corpus callosum
  • renal hypoplasia/aplasia
  • feeding difficulties in infancy
  • peripheral neuropathy
  • hyperacusis
  • tented upper lip vermilion
  • midface retrusion
  • abnormal localization of kidney
  • self-injurious behavior
  • large face

HPO human phenotypes related to Smith-Magenis Syndrome:

(show all 99)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 broad forehead hallmark (90%) HP:0000337
3 deeply set eye hallmark (90%) HP:0000490
4 upslanted palpebral fissure hallmark (90%) HP:0000582
5 synophrys hallmark (90%) HP:0000664
6 taurodontia hallmark (90%) HP:0000679
7 stereotypy hallmark (90%) HP:0000733
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 obesity hallmark (90%) HP:0001513
10 frontal bossing hallmark (90%) HP:0002007
11 neurological speech impairment hallmark (90%) HP:0002167
12 sleep disturbance hallmark (90%) HP:0002360
13 depressed nasal bridge hallmark (90%) HP:0005280
14 attention deficit hyperactivity disorder hallmark (90%) HP:0007018
15 reduced number of teeth hallmark (90%) HP:0009804
16 tented upper lip vermilion hallmark (90%) HP:0010804
17 cognitive impairment hallmark (90%) HP:0100543
18 brachycephaly common (75%) HP:0000248
19 malar flattening common (75%) HP:0000272
20 broad face common (75%) HP:0000283
21 mandibular prognathia common (75%) HP:0000303
22 deeply set eye common (75%) HP:0000490
23 stereotypy common (75%) HP:0000733
24 self-mutilation common (75%) HP:0000742
25 delayed speech and language development common (75%) HP:0000750
26 brachydactyly syndrome common (75%) HP:0001156
27 broad palm common (75%) HP:0001169
28 global developmental delay common (75%) HP:0001263
29 hyporeflexia common (75%) HP:0001265
30 generalized hypotonia common (75%) HP:0001290
31 abnormality of the larynx common (75%) HP:0001600
32 hoarse voice common (75%) HP:0001609
33 sleep disturbance common (75%) HP:0002360
34 short palm common (75%) HP:0004279
35 morphological abnormality of the middle ear common (75%) HP:0008609
36 everted upper lip vermilion common (75%) HP:0010803
37 abnormality of the tongue typical (50%) HP:0000157
38 open mouth typical (50%) HP:0000194
39 velopharyngeal insufficiency typical (50%) HP:0000220
40 mandibular prognathia typical (50%) HP:0000303
41 hypertelorism typical (50%) HP:0000316
42 short philtrum typical (50%) HP:0000322
43 micrognathia typical (50%) HP:0000347
44 abnormality of the outer ear typical (50%) HP:0000356
45 otitis media typical (50%) HP:0000388
46 conductive hearing impairment typical (50%) HP:0000405
47 wide nasal bridge typical (50%) HP:0000431
48 anteverted nares typical (50%) HP:0000463
49 microcornea typical (50%) HP:0000482
50 strabismus typical (50%) HP:0000486
51 myopia typical (50%) HP:0000545
52 synophrys typical (50%) HP:0000664
53 gait disturbance typical (50%) HP:0001288
54 prenatal movement abnormality typical (50%) HP:0001557
55 pes planus typical (50%) HP:0001763
56 toe syndactyly typical (50%) HP:0001770
57 constipation typical (50%) HP:0002019
58 ventriculomegaly typical (50%) HP:0002119
59 hypertriglyceridemia typical (50%) HP:0002155
60 eeg abnormality typical (50%) HP:0002353
61 scoliosis typical (50%) HP:0002650
62 hypercholesterolemia typical (50%) HP:0003124
63 short nose typical (50%) HP:0003196
64 abnormal form of the vertebral bodies typical (50%) HP:0003312
65 clinodactyly of the 5th finger typical (50%) HP:0004209
66 short stature typical (50%) HP:0004322
67 abnormality of the tracheobronchial system typical (50%) HP:0005607
68 impaired pain sensation typical (50%) HP:0007328
69 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
70 hyperacusis typical (50%) HP:0010780
71 seizures frequent (33%) HP:0001250
72 abnormality of cardiovascular system morphology frequent (33%) HP:0030680
73 abnormality of the ureter occasional (7.5%) HP:0000069
74 abnormality of the genital system occasional (7.5%) HP:0000078
75 cleft palate occasional (7.5%) HP:0000175
76 cleft upper lip occasional (7.5%) HP:0000204
77 microcephaly occasional (7.5%) HP:0000252
78 retinal detachment occasional (7.5%) HP:0000541
79 hypothyroidism occasional (7.5%) HP:0000821
80 precocious puberty occasional (7.5%) HP:0000826
81 hand polydactyly occasional (7.5%) HP:0001161
82 seizures occasional (7.5%) HP:0001250
83 limitation of joint mobility occasional (7.5%) HP:0001376
84 abnormality of the forearm occasional (7.5%) HP:0002973
85 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
86 abnormal localization of kidney occasional (7.5%) HP:0100542
87 stereotypy HP:0000733
88 self-mutilation HP:0000742
89 hyperactivity HP:0000752
90 brachydactyly syndrome HP:0001156
91 intellectual disability HP:0001249
92 muscular hypotonia HP:0001252
93 hoarse voice HP:0001609
94 sleep disturbance HP:0002360
95 short stature HP:0004322
96 areflexia HP:0001284
97 midface retrusion HP:0011800
98 head-banging HP:0012168
99 abnormal renal morphology HP:0012210

UMLS symptoms related to Smith-Magenis Syndrome:


hoarseness, sleep disturbances

Drugs & Therapeutics for Smith-Magenis Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MelatoninNutraceuticalPhase 3, Phase 124573-31-4896
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
2
Hydrocortisone60250-23-75754, 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

Interventional clinical trials:

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
5Melatonin Levels in Smith Magenis Syndrome (SMS)CompletedNCT00691574
6Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
7Natural History Study of Smith-Magenis SyndromeRecruitingNCT00013559
8Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
9Observational 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 Syndrome25 23 RAI1

Anatomical Context for Smith-Magenis Syndrome

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MalaCards organs/tissues related to Smith-Magenis Syndrome:

34
Heart, Tongue, Testes, Kidney, Eye, Brain, B cells

Animal Models for Smith-Magenis Syndrome or affiliated genes

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Publications for Smith-Magenis Syndrome

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Articles related to Smith-Magenis Syndrome:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. (26817868)
2016
2
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature. (25929900)
2015
3
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. (26384114)
2015
4
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
5
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). (25036569)
2014
6
Daytime somnolence in an adult with Smith-Magenis syndrome. (23687097)
2013
7
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. (23028815)
2012
8
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. (21897445)
2012
9
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. (21965155)
2011
10
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. (21614983)
2011
11
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. (21739587)
2011
12
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. (20034098)
2010
13
Smith-Magenis syndrome in Puerto Rico: a case report. (19954105)
2009
14
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. (18373405)
2008
15
Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). (17914318)
2007
16
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (17539903)
2007
17
Monozygotic twins of Smith-Magenis syndrome. (17345621)
2007
18
Craniofacial and dental phenotype of Smith-Magenis syndrome. (17001665)
2006
19
Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. (16939758)
2006
20
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. (15635065)
2005
21
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
22
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. (15459175)
2004
23
Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. (15384100)
2004
24
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. (15565467)
2004
25
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. (15148657)
2004
26
Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome. (15517828)
2004
27
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome. (15006669)
2004
28
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. (12525548)
2003
29
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (11997338)
2002
30
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). (12180145)
2002
31
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (11404004)
2001
32
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. (11840190)
2001
33
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. (11546826)
2001
34
Prenatal diagnosis of smith-magenis syndrome (del 17p11.2). (11111213)
2000
35
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
36
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (10036180)
1999
37
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). (10049592)
1999
38
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). (9613860)
1998
39
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
40
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. (9557889)
1998
41
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another opthalmologic complication. (9856566)
1998
42
Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. (10030444)
1998
43
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. (8651284)
1996
44
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. (8958329)
1996
45
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (7633408)
1995
46
The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. (8132119)
1994
47
Smith-Magenis syndrome; Report of two cases and review of the literature. (17586958)
1994
48
Smith-Magenis Syndrome (20301487)
1993
49
Clinical and chromosome studies of three patients with Smith-Magenis syndrome. (2044854)
1991
50
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) (1785639)
1991

Variations for Smith-Magenis Syndrome

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Clinvar genetic disease variations for Smith-Magenis Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RAI1NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter)single nucleotide variantPathogenicrs527236033GRCh37Chr 17, 17698535: 17698535
2RAI1NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter)single nucleotide variantPathogenicrs727504118GRCh37Chr 17, 17699845: 17699845
3RAI1NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter)single nucleotide variantPathogenicrs727504119GRCh37Chr 17, 17700940: 17700940
4chr17deletionPathogenic
5RAI1NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter)single nucleotide variantPathogenicrs376044849GRCh37Chr 17, 17699543: 17699543
6more than 10NC_000017.10: g.17711738_217748468del200036731deletionPathogenicGRCh37Chr 17, 17711738: 217748468
7RAI1RAI1, 1-BP DEL, 4929CdeletionPathogenic
8RAI1RAI1, 1-BP DEL, 1308CdeletionPathogenic
9RAI1RAI1, 29-BP DELdeletionPathogenic
10RAI1NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn)single nucleotide variantPathogenicrs104894633GRCh37Chr 17, 17701685: 17701685
11RAI1NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg)single nucleotide variantPathogenicrs104894634GRCh37Chr 17, 17700947: 17700947
12RAI1RAI1, 1-BP DEL, 3801CdeletionPathogenic
13RAI1RAI1, 19-BP DELdeletionPathogenic

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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Sources for Smith-Magenis Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet