MCID: SMT008
MIFTS: 51

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:
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome 51 11 23 47 24 25 53 69 12 49 67
Sms 47 25 69
Chromosome 17p11.2 Deletion Syndrome 11 47
Chromosome 17p Deletion Syndrome 25 67
17p11.2 Microdeletion Syndrome 11 53
Smith Magenis Syndrome 70 26
17p11.2 Monosomy 25 67
Deletion 17p Syndrome 25
 
Partial Monosomy 17p 25
Chromosome Deletion 67
Del(17)(p11.2) 24
17p- Syndrome 25
P11.2 23
Del 23
17 23

Characteristics:

Orphanet epidemiological data:

53
smith-magenis syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
smith-magenis syndrome:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM51 182290
Disease Ontology11 DOID:0060768
ICD1029 Q93.5
Orphanet53 ORPHA819
ICD10 via Orphanet30 Q93.5
MESH via Orphanet39 D058496
UMLS via Orphanet68 C0795864

Summaries for Smith-Magenis Syndrome

About this section
NIH Rare Diseases:47 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 retinitis pigmentosa 17, 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), and among its related pathways is Glucose / Energy Metabolism. Affiliated tissues include heart, tongue and testes.

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.

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:69 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:51 182290

GeneReviews 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 1712.1
2retinitis pigmentosa 1712.1
3sm-ahnmd12.0
4ciliary dyskinesia, primary, 1712.0
5amyotrophic lateral sclerosis 1712.0
6cardiomyopathy, hypertrophic, 1712.0
7spinocerebellar ataxia, autosomal recessive 1712.0
8combined oxidative phosphorylation deficiency 1712.0
9deafness, autosomal dominant 1712.0
10inflammatory bowel disease 17, protection against11.9
11schizophrenia 1711.9
12bardet-biedl syndrome 1711.9
13joubert syndrome 1711.9
14leber congenital amaurosis 1711.9
15immunodeficiency 17, cd3 gamma deficient11.9
16parkinson disease 1711.9
17epileptic encephalopathy, early infantile, 1711.9
18bleeding disorder, platelet-type, 1711.9
19autism susceptibility 1711.9
20cataract 17, multiple types11.9
21trisomy 17 mosaicism11.9
22spastic paraplegia 1711.9
23hypogonadotropic hypogonadism 17 with or without anosmia11.9
24myasthenic syndrome, congenital, 1711.9
25microcephaly 17, primary, autosomal recessive11.9
26ring chromosome 1711.9
27alzheimer disease 1711.7
28mosaic trisomy 1711.7
29deafness, autosomal recessive 1711.7
30mental retardation, autosomal dominant 1711.7
31mental retardation, x-linked, syndromic 1711.7
32cone-rod dystrophy 1711.7
33deafness, autosomal dominant nonsyndromic sensorineural 1711.7
34diabetes mellitus, insulin-dependent, 1711.6
35mental retardation, x-linked, snyder-robinson type11.6
36dystonia 17, torsion, autosomal recessive11.6
37stiff-person syndrome11.5
38leukemia, acute promyelocytic, somatic11.5
3916p11.2 deletion syndrome11.4
40chromosome 17p deletion11.1
41osteoporosis11.0
42corneal dystrophy, congenital stromal10.9
43extratemporal epilepsy10.9
44hand dermatosis10.9
45sarcoma, synovial10.8
4616p11.2 duplication10.8
47chromosome 16p11.2 deletion syndrome, 220-kb body mass index quantitative trait locus 16, included10.7
48chromosome 16p11.2 deletion syndrome, 593-kb autism, susceptibility to, 14a, included10.7
49chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included10.7
50chromosome 16p11.2 duplication syndrome10.7

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

Human phenotypes related to Smith-Magenis Syndrome:

 63 53 (show all 99)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 hallmark (90%) HP:0000272
2 broad forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000337
3 deeply set eye63 53 hallmark (90%) Very frequent (99-80%) HP:0000490
4 upslanted palpebral fissure63 53 hallmark (90%) Very frequent (99-80%) HP:0000582
5 synophrys63 53 hallmark (90%) Very frequent (99-80%) HP:0000664
6 taurodontia63 53 hallmark (90%) Very frequent (99-80%) HP:0000679
7 stereotypy63 53 hallmark (90%) Very frequent (99-80%) HP:0000733
8 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
9 obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001513
10 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
11 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
12 sleep disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0002360
13 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
14 attention deficit hyperactivity disorder63 53 hallmark (90%) Very frequent (99-80%) HP:0007018
15 reduced number of teeth63 hallmark (90%) HP:0009804
16 tented upper lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0010804
17 cognitive impairment63 hallmark (90%) HP:0100543
18 brachycephaly63 53 common (75%) Very frequent (99-80%) HP:0000248
19 broad face63 common (75%) HP:0000283
20 mandibular prognathia63 53 common (75%) Frequent (79-30%) HP:0000303
21 self-mutilation63 common (75%) HP:0000742
22 delayed speech and language development63 53 common (75%) Very frequent (99-80%) HP:0000750
23 broad palm63 common (75%) HP:0001169
24 global developmental delay63 53 common (75%) Very frequent (99-80%) HP:0001263
25 hyporeflexia63 53 common (75%) Very frequent (99-80%) HP:0001265
26 generalized hypotonia63 common (75%) HP:0001290
27 abnormality of the larynx63 common (75%) HP:0001600
28 hoarse voice63 53 common (75%) Very frequent (99-80%) HP:0001609
29 short palm63 common (75%) HP:0004279
30 morphological abnormality of the middle ear63 common (75%) HP:0008609
31 everted upper lip vermilion63 common (75%) HP:0010803
32 abnormality of the tongue63 typical (50%) HP:0000157
33 open mouth63 53 typical (50%) Frequent (79-30%) HP:0000194
34 velopharyngeal insufficiency63 typical (50%) HP:0000220
35 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
36 short philtrum63 53 typical (50%) Frequent (79-30%) HP:0000322
37 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
38 abnormality of the outer ear63 typical (50%) HP:0000356
39 otitis media63 typical (50%) HP:0000388
40 conductive hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000405
41 wide nasal bridge63 53 typical (50%) Very frequent (99-80%) HP:0000431
42 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
43 microcornea63 53 typical (50%) Frequent (79-30%) HP:0000482
44 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
45 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
46 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
47 prenatal movement abnormality63 typical (50%) HP:0001557
48 pes planus63 53 typical (50%) Frequent (79-30%) HP:0001763
49 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
50 constipation63 53 typical (50%) Frequent (79-30%) HP:0002019
51 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
52 hypertriglyceridemia63 53 typical (50%) Frequent (79-30%) HP:0002155
53 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
54 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
55 hypercholesterolemia63 53 typical (50%) Frequent (79-30%) HP:0003124
56 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
57 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
58 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
59 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
60 abnormality of the tracheobronchial system63 53 typical (50%) Very frequent (99-80%) HP:0005607
61 impaired pain sensation63 53 typical (50%) Frequent (79-30%) HP:0007328
62 aplasia/hypoplasia of the corpus callosum63 53 typical (50%) Frequent (79-30%) HP:0007370
63 hyperacusis63 53 typical (50%) Frequent (79-30%) HP:0010780
64 seizures63 53 frequent (33%) Occasional (29-5%) HP:0001250
65 abnormality of cardiovascular system morphology63 frequent (33%) HP:0030680
66 abnormality of the ureter63 53 occasional (7.5%) Occasional (29-5%) HP:0000069
67 abnormality of the genital system63 occasional (7.5%) HP:0000078
68 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
69 cleft upper lip63 53 occasional (7.5%) Occasional (29-5%) HP:0000204
70 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
71 retinal detachment63 53 occasional (7.5%) Occasional (29-5%) HP:0000541
72 hypothyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000821
73 precocious puberty63 53 occasional (7.5%) Occasional (29-5%) HP:0000826
74 hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001161
75 limitation of joint mobility63 occasional (7.5%) HP:0001376
76 abnormality of the forearm63 occasional (7.5%) HP:0002973
77 renal hypoplasia/aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0008678
78 abnormal localization of kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0100542
79 hyperactivity63 HP:0000752
80 intellectual disability63 53 Very frequent (99-80%) HP:0001249
81 muscular hypotonia63 53 Very frequent (99-80%) HP:0001252
82 areflexia63 HP:0001284
83 midface retrusion63 53 Very frequent (99-80%) HP:0011800
84 head-banging63 HP:0012168
85 abnormal renal morphology63 HP:0012210
86 chronic otitis media53 Frequent (79-30%)
87 delayed eruption of primary teeth53 Very frequent (99-80%)
88 anxiety53 Very frequent (99-80%)
89 delayed puberty53 Occasional (29-5%)
90 joint stiffness53 Occasional (29-5%)
91 failure to thrive in infancy53 Frequent (79-30%)
92 decreased fetal movement53 Frequent (79-30%)
93 gastroesophageal reflux53 Frequent (79-30%)
94 malformation of the heart and great vessels53 Frequent (79-30%)
95 corticospinal tract hypoplasia53 Very frequent (99-80%)
96 feeding difficulties in infancy53 Frequent (79-30%)
97 peripheral neuropathy53 Frequent (79-30%)
98 self-injurious behavior53 Very frequent (99-80%)
99 large face53 Very frequent (99-80%)

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 125573-31-4896
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 12928
3Protective AgentsPhase 3, Phase 17190
4Central Nervous System DepressantsPhase 3, Phase 112806
5
Hydrocortisoneapproved, vet_approved64050-23-75754, 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 acetate640
7Hydrocortisone 17-butyrate 21-propionate640
8Anti-Inflammatory Agents10355
9Cortisol succinate640

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 Syndrome26 24 RAI1

Anatomical Context for Smith-Magenis Syndrome

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MalaCards organs/tissues related to Smith-Magenis Syndrome:

35
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 181)
idTitleAuthorsYear
1
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. (27693255)
2016
2
First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. (26817868)
2016
3
Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature. (25929900)
2015
4
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. (26384114)
2015
5
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
6
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). (25036569)
2014
7
Daytime somnolence in an adult with Smith-Magenis syndrome. (23687097)
2013
8
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. (23028815)
2012
9
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. (21897445)
2012
10
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. (21965155)
2011
11
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. (21614983)
2011
12
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. (21739587)
2011
13
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. (20034098)
2010
14
Smith-Magenis syndrome in Puerto Rico: a case report. (19954105)
2009
15
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. (18373405)
2008
16
Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). (17914318)
2007
17
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (17539903)
2007
18
Monozygotic twins of Smith-Magenis syndrome. (17345621)
2007
19
Craniofacial and dental phenotype of Smith-Magenis syndrome. (17001665)
2006
20
Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. (16939758)
2006
21
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. (15635065)
2005
22
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
23
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. (15459175)
2004
24
Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. (15384100)
2004
25
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. (15565467)
2004
26
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. (15148657)
2004
27
Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome. (15517828)
2004
28
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome. (15006669)
2004
29
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. (12525548)
2003
30
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (11997338)
2002
31
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). (12180145)
2002
32
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (11404004)
2001
33
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. (11840190)
2001
34
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. (11546826)
2001
35
Prenatal diagnosis of smith-magenis syndrome (del 17p11.2). (11111213)
2000
36
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
37
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (10036180)
1999
38
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
39
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). (9613860)
1998
40
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
41
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. (9557889)
1998
42
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another opthalmologic complication. (9856566)
1998
43
Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. (10030444)
1998
44
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. (8651284)
1996
45
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. (8958329)
1996
46
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (7633408)
1995
47
The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. (8132119)
1994
48
Smith-Magenis syndrome; Report of two cases and review of the literature. (17586958)
1994
49
Smith-Magenis Syndrome (20301487)
1993
50
Clinical and chromosome studies of three patients with Smith-Magenis syndrome. (2044854)
1991

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)SNVPathogenicrs727504118GRCh38Chr 17, 17796531: 17796531
3RAI1NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter)SNVPathogenicrs727504119GRCh38Chr 17, 17797626: 17797626
4chr17deletionPathogenicChr na, -1: -1
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, 4929CdeletionPathogenicChr na, -1: -1
9RAI1RAI1, 1-BP DEL, 1308CdeletionPathogenicChr na, -1: -1
10RAI1RAI1, 29-BP DELdeletionPathogenicChr na, -1: -1
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, 3801CdeletionPathogenicChr na, -1: -1
14RAI1RAI1, 19-BP DELdeletionPathogenicChr na, -1: -1
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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Pathways related to Smith-Magenis Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.8SHMT1, SLC47A1, SREBF1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet