Smith-Magenis Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SMS MCID: SMT008 MIFTS: 58	Smith-Magenis Syndrome (SMS) Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Smith-Magenis Syndrome

MalaCards integrated aliases for Smith-Magenis Syndrome:

Name: Smith-Magenis Syndrome ⁵⁷ ¹² ²⁴ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁴ ¹⁵ ⁷³

Sms ⁵⁷ ⁵³ ²⁵ ⁷⁵

Chromosome 17p11.2 Deletion Syndrome ⁵⁷ ¹² ⁵³

Chromosome 17p Deletion Syndrome ²⁵ ⁷³

17p11.2 Microdeletion Syndrome ¹² ⁵⁹

17p11.2 Monosomy ²⁵ ⁷³

Syndrome, Smith-Magenis ⁴⁰

Smith Magenis Syndrome ⁷⁶

Smithmagenis Syndrome ⁷⁶

Deletion 17p Syndrome ²⁵

Partial Monosomy 17p ²⁵

17p- Syndrome ²⁵

P11.2 ²⁴

Del ²⁴

17 ²⁴

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
most cases result from de novo mutation or deletion of rai1

HPO:

³²

smith-magenis syndrome:
Inheritance autosomal dominant inheritance sporadic

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁵⁹

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 182290

Disease Ontology ¹² DOID:0060768

ICD10 ³³ Q93.5

MeSH ⁴⁴ D058496

Orphanet ⁵⁹ ORPHA819

ICD10 via Orphanet ³⁴ Q93.5

MESH via Orphanet ⁴⁵ D058496

UMLS via Orphanet ⁷⁴ C0795864

MedGen ⁴² C0795864 C1866927

KEGG ³⁷ H01791

SNOMED-CT via HPO ⁶⁹ 263681008 422775003 63567004 more

UMLS ⁷³ C0795864 C3683846 C3661485

Sources

Summaries for Smith-Magenis Syndrome

NIH Rare Diseases : ⁵³ Smith-Magenis syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with SMS have a deletion of genetic material in each cell from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, is responsible for most of the features of the condition. In most of these cases, the deletion is not inherited, occurring randomly during the formation of eggs or sperm, or in early fetal development. In rare cases, the deletion is due to a chromosomal balanced translocation in one of the parents. In about 10% of cases, SMS is caused by a mutation in the RAI1 gene. These mutations may occur randomly, or may be inherited from a parent in an autosomal dominant manner. Treatment for SMS depends on the symptoms present in each person.

MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and trisomy 17 mosaicism, and has symptoms including sleep disturbances and hoarseness. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1). The drugs Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and pituitary, and related phenotypes are hypertelorism and obesity

Disease Ontology : ¹² A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.

Genetics Home Reference : ²⁵ Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.

UniProtKB/Swiss-Prot : ⁷⁵ Smith-Magenis syndrome: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.

Wikipedia : ⁷⁶ Smith�??Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities,... more...

Description from OMIM: 182290

GeneReviews: NBK1310

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Related Diseases for Smith-Magenis Syndrome

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

(show top 50) (show all 1323)

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

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

Sources

Symptoms & Phenotypes for Smith-Magenis Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
sleep disturbance
speech delay
mental retardation (iq 20-78)
structural brain abnormalities

Head And Neck Head:
brachycephaly

Skeletal Hands:
brachydactyly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
behavioral problems
polyembolokoilamania (insertion of foreign bodies into body orifices)
self-destructive behavior
onychotillomania (pulling out nails)
more

Cardiovascular Heart:
congenital heart defect

Head And Neck Ears:
hearing loss (conductive and/or sensorineural)

Laboratory Abnormalities:
interstitial deletion of 17p11.2 (most common is 3.7mb)

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased pain sensitivity
normal nerve conduction velocities
decrease/absent deep tendon reflexes

Voice:
hoarse voice

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
midface hypoplasia
broad face

Genitourinary Kidneys:
structural renal anomalies

Clinical features from OMIM:

182290

Human phenotypes related to Smith-Magenis Syndrome:

⁵⁹ ³² (show top 50) (show all 101)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000316
2	obesity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001513
3	frontal bossing ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002007
4	hypothyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000821
5	precocious puberty ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000826
6	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
7	seizures ⁵⁹ ³²	frequent (33%)	Occasional (29-5%)	HP:0001250
8	muscular hypotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001252
9	gait disturbance ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001288
10	constipation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002019
11	neurological speech impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002167
12	eeg abnormality ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002353
13	sleep disturbance ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0002360
14	scoliosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002650
15	self-injurious behavior ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100716
16	large face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100729
17	mandibular prognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000303
18	chronic otitis media ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000389
19	global developmental delay ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0001263
20	depressed nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005280
21	wide nasal bridge ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000431
22	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000750
23	joint stiffness ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001387
24	pes planus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001763
25	short nose ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003196
26	microcephaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000252
27	anteverted nares ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000463
28	short stature ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004322
29	gastroesophageal reflux ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002020
30	feeding difficulties in infancy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008872
31	stereotypy ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000733
32	delayed puberty ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000823
33	brachycephaly ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000248
34	hypertriglyceridemia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002155
35	cleft palate ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000175
36	micrognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000347
37	strabismus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000486
38	abnormal form of the vertebral bodies ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003312
39	attention deficit hyperactivity disorder ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007018
40	anxiety ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000739
41	failure to thrive in infancy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001531
42	myopia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000545
43	renal hypoplasia/aplasia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008678
44	ventriculomegaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002119
45	broad forehead ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000337
46	short philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000322
47	deeply set eye ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0000490
48	clinodactyly of the 5th finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004209
49	retinal detachment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000541
50	open mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000194

UMLS symptoms related to Smith-Magenis Syndrome:

sleep disturbances, hoarseness

Sources

Drugs & Therapeutics for Smith-Magenis Syndrome

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

(show all 13)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Melatonin

Approved, Nutraceutical, Vet_approved

Phase 3,Phase 1,Not Applicable

73-31-4

896

Synonyms:

{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} acetamide

{N-[2-(5-methoxyindol-3-yl)ethyl]-} acetamide

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

Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}

Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}

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)

AKOS000276269

BAS 01281092

BIDD:ER0618

Bio-0635

BPBio1_000590

BRD-K97530723-001-07-6

BRN 0205542

BSPBio_000536

BSPBio_003006

C01598

CAS-73-31-4

CCRIS 3472

CHEBI:16796

CHEMBL45

ChemDiv2_003916

CID896

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

Lopac0_000787

Lopac-M-5250

LS-1623

M 5250

M1105

M-1200

M-1250

M5250_SIGMA

Melapure

Mela-T

Melatol

Melatonex

Melatonex, Melatonin

Melatonin

Melatonin (synth.) standard-grade

Melatonin (synth.) ultra-pure

Melatonina

Melatonina (TN)

Melatonine

Melovine

ML1

MLS000859594

MLS001055382

MLS001240204

MolPort-000-737-883

MT6

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-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

N-Acetyl-5-methoxytryptamine

N-Acetyl-5-methoxy-tryptamine

N-Acetyl-5-methoxy-tryptamine melatonine

Nature'S Harmony

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

Night Rest

NINDS_000353

NMR/14327425

NSC 113928

NSC113928

NSC56423

Oprea1_104553

Oprea1_814234

Pineal Hormone

Posidorm

Prestwick_312

Prestwick0_000458

Prestwick1_000458

Prestwick2_000458

Prestwick3_000458

PREVENTION 1 (MELATONIN) (PREVENTION 1)

PREVENTION 2 (MELATONIN)

PREVENTION 3 (MELATONIN)

PREVENTION 4 (MELATONIN)

PREVENTION 5 (MELATONIN)

Regulin

Revital Melatonin

Rx Balance

S1204_Selleck

SDCCGMLS-0065812.P001

SDCCGMLS-0065812.P002

Sleep Right

SMP2_000309

SMR000326666

SPBio_001527

SPBio_002475

Spectrum_000185

SPECTRUM1500690

Spectrum2_001344

Spectrum3_001393

Spectrum4_000066

Spectrum5_001745

STK386880

TNP00300

UNII-JL5DK93RCL

Vivitas

WLN: T56 BMJ D2MV1 GO1

ZINC00057060

Antioxidants

Phase 3,Phase 1,Not Applicable

Protective Agents

Phase 3,Phase 1,Not Applicable

Central Nervous System Depressants

Phase 3,Phase 1,Not Applicable

Hormone Antagonists

Phase 2, Phase 3

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2, Phase 3

alpha-MSH

Phase 2, Phase 3

581-05-5

Hormones

Phase 2, Phase 3

Hydrocortisone acetate

Approved, Vet_approved

50-03-3

Hydrocortisone

Approved, Vet_approved

50-23-7

5754

Synonyms:

(11b)-11,17,21-Trihydroxypregn-4-ene-3,20-dione

(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione

(11β)-11,17,21-trihydroxypregn-4-ene-3,20-dione

[3H]cortisol

11 Epicortisol

11a-Hydroxycorticosterone

11alpha-Hydroxycorticosterone

11b,17,21-Trihydroxyprogesterone

11b,17a,21-Trihydroxy-4-pregnene-3,20-dione

11beta,17,21-Trihydroxyprogesterone

11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione

11beta-hydrocortisone

11beta-Hydrocortisone

11-beta-Hydrocortisone

11beta-Hydroxycortisone

11-beta-Hydroxycortisone

11b-Hydrocortisone

11b-Hydroxycortisone

11-Epicortisol

11-Hydrocortisone

11β,17α,21-trihydroxy-4-pregnene-3,20-dione

11β-hydrocortisone

17a-Hydroxycorticosterone

17alpha-Hydroxycorticosterone

17-Hydroxycorticosterone

2v95

4-Pregnen-11b,17a,21-triol-3,20-dione

4-Pregnen-11beta,17alpha,21-triol-3,20-dione

4-pregnen-11β,17α,21-triol-3,20-dione

4-Pregnen-11β,17α,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

Acticort

Acticort (TN)

Aeroseb HC

Aeroseb-HC

AI3-25006

AKOS001582651

Alacort

Ala-cort

Ala-Cort

Ala-scalp

Ala-Scalp

Algicirtis

Alphaderm

Amberin

Anflam

Anti-inflammatory hormone

Anucort

Anucort-HC

Anusol HC

Anusol HC (TN)

Anusol-HC

Aquacort

Aquanil HC

B48448A1-24BA-47CA-8D9E-43E5BC949386

Balneol-hc

Balneol-HC

Barseb HC

Basan-corti

Basan-Corti

Beta-hc

Beta-HC

b-HC

Bio-0648

BPBio1_000544

BRD-K93568044-001-03-1

BSPBio_000494

C00735

C21H30O5

CaldeCORT spray

CaldeCORT Spray

CCRIS 5854

Cetacort

CHEBI:17650

CHEMBL389621

Chronocort

CID5754

Clear aid

Cleiton

Cobadex

Colocort

Colocort (TN)

component of Lubricort

component of Neo-Cort-Dome

component of Otalgine

Compound F

Compound F (kendall)

Corhydron

Cor-oticin

COR-OTICIN

Cortanal

Cor-tar-quin

Cort-dome

Cort-Dome

Cortef

Cortef (TN)

Cortenema

Cortesal

Corticreme

Cortifair

Cortifan

Cortifoam

Cortiment

Cortisol

Cortisol alcohol

Cortisol, Hydrocortisone

Cortisolonum

Cortisporin

Cortisporin otico

Cortisporin Otico

Cortispray

Cortizol

Cortolotion

Cortonema

Cortoxide

Cort-quin

Cortril

CORTRIL

CPD000653523

Cremesone

Cremicort-H

Cutisol

Cyclodextrin-encapsulated hydrocortisone

D00088

DB00741

DB07886

Delacort

Dermacort

Derm-aid

Derm-Aid

Dermaspray

Dermil

Dermocortal

Dermolate

Dihydrocostisone

Dioderm

Dome-cort

Domolene-HC

Drotic

DuoCort

Ef corlin

Efcorbin

Efcortelan

Efcortelin

EINECS 200-020-1

Eldecort

Eldercort

Epicort

Epicortisol

Epiderm H

Esiderm H

EU-0100594

Evacort

Ficortril

Fiocortril

Flexicort

Foille insetti

Foille Insetti

Genacort

Genacort (lotion)

Glycort

gyno-Cortisone

Gyno-Cortisone

H 4001

H0135_SIGMA

H0396_SIGMA

H0888_SIGMA

H3160_SIGMA

H4001_SIGMA

H6909_SIGMA

HC #1

HC #4

HC (HYDROCORTISONE)

H-Cort

Heb cort

Heb Cort

Heb-cort

Heb-Cort

Hi-cor

Hidalone

hidro-Colisona

Hidro-Colisona

Hidrocortisona

Hidrocortisona [INN-Spanish]

HMS1569I16

HMS2090M04

HSDB 3339

Hycort

Hycortol

Hycortole

Hydracort

Hydrasson

hydro-Adreson

Hydro-Adreson

hydro-Colisona

Hydro-Colisona

Hydrocort

Hydrocortal

Hydrocorticosterone

hydrocortisone

Hydrocortisone

Hydrocortisone (JP15/USP/INN)

Hydrocortisone [INN:BAN:JAN]

Hydrocortisone acetate

Hydrocortisone alcohol

HYDROCORTISONE AND ACETIC ACID

Hydrocortisone base

Hydrocortisone butyrate

Hydrocortisone free alcohol

Hydrocortisone in absorbase

HYDROCORTISONE IN ABSORBASE

Hydrocortisone sodium phosphate

Hydrocortisone solution

Hydrocortisone valerate

Hydrocortisone, (11 alpha)-isomer

Hydrocortisone, (9 beta,10 alpha,11 alpha)-isomer

Hydrocortisone-Water Soluble

Hydrocortisonum

Hydrocortisonum [INN-Latin]

Hydrocortistab

Hydrocortisyl

Hydrocortone

HYDROCORTONE

hydro-RX

Hydro-RX

Hydroskin

Hydroxycortisone

Hysone

Hytisone

Hytone

Hytone (TN)

Hytone lotion

Idrocortisone

Idrocortisone [DCIT]

Incortin-H

Incortin-hydrogen

Kendall's compound F

Komed HC

Kyypakkaus

Lacticare HC

Lacticare-HC

Lactisona

LMST02030001

Locoid

Lopac0_000594

LS-7439

Lubricort

Maintasone

Medicort

Meusicort

Micort-HC

Mildison

Milliderm

MLS000069609

MLS001148103

MLS002207135

MLS002222189

MolPort-001-794-637

NCGC00022848-06

NCGC00022848-07

NCGC00022848-09

NCGC00022848-12

NCI60_000118

neo-Cort-dome

neo-Cortef

Neo-Cortef

Neosporin-H ear

Neosporin-H Ear

Nogenic HC

NSC 10483

NSC10483

NSC-10483

Nutracort

Nystaform-HC

Ophthocort

Optef

ORLEX HC

Otalgine

Otic-neo-cort-dome

Otobiotic

Otocort

Otosone-F

Pediotic suspension

Pediotic Suspension

Penecort

Permicort

Plenadren

Polcort H

Preparation H hydrocortisone cream

Preparation H Hydrocortisone Cream

Prepcort

Prestwick_265

Prestwick0_000447

Prestwick1_000447

Prestwick2_000447

Prestwick3_000447

Prevex HC

Proctocort

Proctofoam

Proctozone HC

Protocort

Racet

Rectasol-HC

Rectoid

Reichstein's substance m

Reichstein's substance M

Remederm HC

S1696_Selleck

SAM002264617

Sanatison

Scalp-Cort

Scalpicin capilar

Scalpicin Capilar

Schericur

Scheroson F

Sigmacort

Signef

SMP1_000156

SMR000059022

SMR000653523

SPBio_002433

Stie-cort

Stiefcorcil

Synacort

Systral hydrocort

Systral Hydrocort

Tarcortin

Terra-cortril

Texacort

Texacort lotion 25

Timocort

Topicort

Transderma H

Traumaide

U-cort

Uniderm

UNII-WI4X0X7BPJ

UPCMLD-DP133

UPCMLD-DP133:001

Vioform-hydrocortisone

VoSol HC

Vytone

Zenoxone

β-HC

Anti-Inflammatory Agents

Hydrocortisone 17-butyrate 21-propionate

Cortisol succinate

Interventional clinical trials:

(show all 12)

#	Name	Status	NCT ID	Phase	Drugs
1	Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS	Unknown status	NCT02231008	Phase 2, Phase 3	tasimelteon
2	Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities	Completed	NCT01906866	Phase 3	Circadin 2/5/10 mg;Placebo
3	Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity	Recruiting	NCT03013543	Phase 2, Phase 3	Setmelanotide
4	Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents	Unknown status	NCT02776215	Phase 1	tasimelteon
5	Treatment Strategies for Children With Smith-Magenis Syndrome	Completed	NCT00506259	Phase 1	dTR Melatonin (NIH CC PDS);Melatonin CR
6	Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances	Completed	NCT01903681	Phase 1	Circadin 2 mg;Circadin 10 mg
7	Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)	Unknown status	NCT02180451
8	Melatonin Levels in Smith Magenis Syndrome (SMS)	Completed	NCT00691574	Not Applicable
9	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes	Completed	NCT00004351
10	Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances	Recruiting	NCT03154697
11	Natural History Study of Smith-Magenis Syndrome	Recruiting	NCT00013559
12	Melatonin in Adults With SMS	Recruiting	NCT03492970	Not Applicable

Search NIH Clinical Center for Smith-Magenis Syndrome

Cochrane evidence based reviews: smith-magenis syndrome

Sources

Genetic Tests for Smith-Magenis Syndrome

Genetic tests related to Smith-Magenis Syndrome:

#	Genetic test	Affiliating Genes
1	Smith-Magenis Syndrome ²⁹	RAI1

Sources

Anatomical Context for Smith-Magenis Syndrome

MalaCards organs/tissues related to Smith-Magenis Syndrome:

⁴¹

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

Sources

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

(show top 50) (show all 814)

#	Title	Authors	Year
1	Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. ( 29321841 )	Nag H.E....NA	2018
2	A Rare De Novo <i>RAI1</i> Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. ( 29794985 )		2018
3	Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients. ( 29346496 )		2018
4	A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )		2018
5	Blast SMS Text Messaging to Facilitate Enrollment for Cleft Lip and Palate Surgery in Zimbabwe. ( 29145544 )	Shaye DA...Tollefson TT	2018
6	Meeting patients where they are: improving outcomes in early chronic kidney disease with tailored self-management support (the CKD-SMS study). ( 30342487 )	Havas K...Bonner A	2018
7	Development and validation of a speech pathology-specific questionnaire for persons with multiple sclerosis (SMS). ( 30348018 )	El-Wahsh S...Bogaardt H	2018
8	Impact of community-delivered SMS alerts on dog-owner participation during a mass rabies vaccination campaign, Haiti 2017. ( 29580642 )	Cleaton JM...King A	2018
9	Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome. ( 29494847 )	Altieri F...Rosati J	2018
10	Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome. ( 30275311 )	Huang WH...Luo L	2018
11	Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome. ( 30421967 )	Hodnett J...Miller SJ	2018
12	Behavior and sleep disturbance in Smith-Magenis syndrome. ( 30557269 )	Shayota BJ...Elsea SH	2018
13	SMS-based smartphone application for disease surveillance has doubled completeness and timeliness in a limited-resource setting - evaluation of a 15-week pilot program in Central African Republic (CAR). ( 30386418 )	El-Khatib Z...Reeder B	2018
14	Quantitative identification of proteins that influence miRNA biogenesis by RNA pull-down-SILAC mass spectrometry (RP-SMS). ( 29890283 )	Choudhury NR...Michlewski G	2018
15	The effect of SMS (text message) reminders on attendance at a community adult mental health service clinic: do SMS reminders really increase attendance? ( 29143910 )	Moran L...Kelly BD	2018
16	Using multi-echo simultaneous multi-slice (SMS) EPI to improve functional MRI of the subcortical nuclei of the basal ganglia at ultra-high field (7T). ( 29208571 )	Puckett AM...Cunnington R	2018
17	Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU). ( 29210058 )	Granholm A...M?ller MH	2018
18	SMS messaging to improve ART adherence: perspectives of pregnant HIV-infected women in Kenya on HIV-related message content. ( 29254362 )	Ronen K...John-Stewart G	2018
19	The SMS, Phone, and medical Examination sports injury surveillance system is a feasible and valid approach to measuring handball exposure, injury occurrence, and consequences in elite youth sport. ( 29286552 )	M?ller M...Attermann J	2018
20	Beyond mere pill taking: SMS reminders for HIV treatment adherence delivered to mobile phones of clients in a community support network in Australia. ( 29336111 )	Mao L...Persson A	2018
21	Reply to the letter regarding our manuscript 'Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU)'. ( 29359410 )	Granholm A...M?ller MH	2018
22	Using the Medical Research Council framework for development and evaluation of complex interventions in a low resource setting to develop a theory-based treatment support intervention delivered via SMS text message to improve blood pressure control. ( 29361934 )	Bobrow K...Levitt N	2018
23	Development and internal validation of the Simplified Mortality Score for the Intensive Care Unit (SMS-ICU). ( 29368381 )	Haniffa R...Dondorp AM	2018
24	Does additional support provided through e-mail or SMS in a Web-based Social Marketing program improve children's food consumption? A Randomized Controlled Trial. ( 29452589 )	Rangelov N...Suggs LS	2018
25	SMS text messaging to measure working time: the design of a time use study among general practitioners. ( 29463312 )	van Hassel D...Batenburg R	2018
26	Simultaneous multislice triple-echo steady-state (SMS-TESS) T1 , T2 , PD, and off-resonance mapping in the human brain. ( 29468727 )	Heule R...Bieri O	2018
27	Challenges and solutions implementing an SMS text message-based survey CASI and adherence reminders in an international biomedical HIV PrEP study (MTN 017). ( 29501908 )	Brown W...Cranston RD	2018
28	mCME project V.2.0: randomised controlled trial of a revised SMS-based continuing medical education intervention among HIV clinicians in Vietnam. ( 29527350 )	Gill CJ...Sabin L	2018
29	The effect of distance learning via SMS on academic achievement and satisfaction of medical students. ( 29629390 )	Sichani MM...Omid A	2018
30	Effect of a Multi-Site Trial using Short Message Service (SMS) on Infant Feeding Practices and Weight Gain in Low-Income Minorities. ( 29708471 )	Palacios C...Banna J	2018
31	SMS reminders to improve adherence and cure of tuberculosis patients in Cameroon (TB-SMS Cameroon): a randomised controlled trial. ( 29720146 )	Bediang G...Geissbuhler A	2018
32	Efficacy of an SMS-Based Smoking Intervention Using Message Self-Authorship: A Pilot Study. ( 29755598 )	DeStasio KL...Berkman ET	2018
33	Response to Rejoinder to "Ethical issue in the use of SMS messaging in HIV care and treatment in low- and middle-income countries: case examples from Mozambique". ( 29850824 )	Ossemane EB...Heitman E	2018
34	The post-trial analysis of the Indian SMS diabetes prevention study shows persistent beneficial effects of lifestyle intervention. ( 29859274 )	Nanditha A...Ramachandran A	2018
35	Design and content validation of a set of SMS to promote seeking of specialized mental health care within the Allillanchu Project. ( 29868227 )	Toyama M...Miranda JJ	2018
36	Linking at-risk South African girls to sexual violence and reproductive health services: A mixed-methods assessment of a soccer-based HIV prevention program and pilot SMS campaign. ( 29890449 )	Merrill KG...Harrison A	2018
37	SMS texts on corruption help Ugandan voters hold elected councillors accountable at the polls. ( 29891688 )	Buntaine MT...Pickering PM	2018
38	Effectiveness of SMS Technology on Timely Community Health Worker Follow-Up for Childhood Malnutrition: A Retrospective Cohort Study in sub-Saharan Africa. ( 29959274 )	Sarma S...Kanter AS	2018
39	Clinical Interest and Economic Impact of Preoperative SMS Reminders before Ambulatory Surgery: A Propensity Score Analysis. ( 29968118 )	Garnier F...Beaussier M	2018
40	Draft Genome Sequence of Bioactive Strain Streptomyces sp. SMS_SU21, Isolated from Soil Sediment of the Sundarbans Mangrove Ecosystem. ( 29976609 )	Sengupta S...Bhattacharyya M	2018
41	Costing analysis of an SMS-based intervention to promote HIV self-testing amongst truckers and sex workers in Kenya. ( 29979704 )	George G...Kelvin EA	2018
42	Improving medication adherence with adjuvant aromatase inhibitor in women with breast cancer: study protocol of a randomised controlled trial to evaluate the effect of short message service (SMS) reminder. ( 29986672 )	He Y...Tai BC	2018
43	Rejoinder to "Ethical issues in the use of SMS messaging in HIV care and treatment in low-and-middle-income countries". ( 30010943 )	Inguane CA...Nal? R	2018
44	Effectiveness of the eCARE Programme: A Short Message Service (SMS) for Asthma Monitoring. ( 30019070 )	Prabhakaran L...Lim TK	2018
45	Does SMS-Support Make a Difference? Effectiveness of a Two-Week Online-Training to Overcome Procrastination. A Randomized Controlled Trial. ( 30026713 )	Eckert M...Berking M	2018
46	Can a bothersome course of pelvic pain from mid-pregnancy to birth be predicted? A Norwegian prospective longitudinal SMS-Track study. ( 30049694 )	Malmqvist S...Bronnick KS	2018
47	Tertiary education regarding stillbirth for student midwives: The tears 4 SMS project. ( 30097322 )	Warland J...Glover P	2018
48	Femtosecond-induced spiral micro-structured SMS fiber structure for refractive index measurement. ( 30119550 )	Liu F...Dai YT	2018
49	Neurosurgery in SMS Medical College -From bare necessity to excellence. ( 30233020 )	Sinha VD...Chakrabarty A	2018
50	Assessing the variation in workload among general practitioners in urban and rural areas: An analysis based on SMS time sampling data. ( 30238625 )	van Hassel D...Batenburg R	2018

Sources

Genes for Smith-Magenis Syndrome

Genes related to Smith-Magenis Syndrome (4 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAI1	Retinoic Acid Induced 1	Protein Coding	1456.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Role in the phenotype ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	12652298 20301487 23519317 (more) 15788730 22578325 15788730 15690371 18231123 15565467 19752160 17431895 18285828 17041942 18373405
2	FLII	FLII, Actin Remodeling Protein	Protein Coding	57.18	Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Functions (show sections)
3	LLGL1	LLGL1, Scribble Cell Polarity Complex Component	Protein Coding	52.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Proteins Functions (show sections)
4	MYO15A	Myosin XVA	Protein Coding	41.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
5	SHMT1	Serine Hydroxymethyltransferase 1	Protein Coding	40.53	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Functions (show sections)
6	SMCR5	Smith-Magenis Syndrome Chromosome Region, Candidate 5	RNA Gene	37.87	GeneCards inferred via : Publications Gene name Proteins Transcripts (show sections)
7	SMCR8	Smith-Magenis Syndrome Chromosome Region, Candidate 8	Protein Coding	33.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Transcripts (show sections)
8	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	32.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
9	MFAP4	Microfibril Associated Protein 4	Protein Coding	32.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Functions (show sections)
10	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	31.21	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
11	DEAF1	DEAF1 Transcription Factor	Protein Coding	30.81	Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵
12	FLCN	Folliculin	Protein Coding	30.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
13	IQSEC2	IQ Motif And Sec7 Domain 2	Protein Coding	29.92	Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵
14	LOC106020709	Distal SMS-REP Block C Recombination Region	Uncategorized	27.13	GeneCards inferred via : Publications Gene name Summaries (show sections)
15	LOC106020710	Proximal SMS-REP Block C Recombination Region	Uncategorized	27.13	GeneCards inferred via : Publications Gene name Summaries (show sections)
16	LOC108745276	Proximal SMS-REP Block A Recombination Region	Uncategorized	27.13	GeneCards inferred via : Publications Gene name Summaries (show sections)
17	LOC108745275	Distal SMS-REP Block A Recombination Region	Uncategorized	27.13	GeneCards inferred via : Publications Gene name Summaries (show sections)
18	MIEF2	Mitochondrial Elongation Factor 2	Protein Coding	27.11	GeneCards inferred via : Publications Gene name Summaries (show sections)
19	COPS3	COP9 Signalosome Subunit 3	Protein Coding	24.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
20	KCNJ12	Potassium Voltage-Gated Channel Subfamily J Member 12	Protein Coding	23.61	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries Functions (show sections)
21	DRG2	Developmentally Regulated GTP Binding Protein 2	Protein Coding	23.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
22	RNF112	Ring Finger Protein 112	Protein Coding	22.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
23	SMCR6	Smith-Magenis Syndrome Chromosome Region, Candidate 6	RNA Gene	17.68	GeneCards inferred via : Publications Gene name (show sections)
24	SMCR2	Smith-Magenis Syndrome Chromosome Region, Candidate 2	RNA Gene	17.68	GeneCards inferred via : Publications Gene name (show sections)
25	GID4	GID Complex Subunit 4 Homolog	Protein Coding	17.05	GeneCards inferred via : Publications Summaries (show sections)
26	TOM1L2	Target Of Myb1 Like 2 Membrane Trafficking Protein	Protein Coding	17.05	GeneCards inferred via : Publications Summaries (show sections)
27	ATPAF2	ATP Synthase Mitochondrial F1 Complex Assembly Factor 2	Protein Coding	16.83	GeneCards inferred via : Publications Summaries (show sections)

Sources

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

⁶ (show all 44)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RAI1	RAI1, 1-BP DEL, 4929C	deletion	Pathogenic
2	RAI1	RAI1, 1-BP DEL, 1308C	deletion	Pathogenic
3	RAI1	RAI1, 29-BP DEL	deletion	Pathogenic
4	RAI1	NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn)	single nucleotide variant	Pathogenic	rs104894633	GRCh37	Chromosome 17, 17701685: 17701685
5	RAI1	NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn)	single nucleotide variant	Pathogenic	rs104894633	GRCh38	Chromosome 17, 17798371: 17798371
6	RAI1	NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg)	single nucleotide variant	Pathogenic	rs104894634	GRCh37	Chromosome 17, 17700947: 17700947
7	RAI1	NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg)	single nucleotide variant	Pathogenic	rs104894634	GRCh38	Chromosome 17, 17797633: 17797633
8	RAI1	RAI1, 1-BP DEL, 3801C	deletion	Pathogenic
9	RAI1	RAI1, 19-BP DEL	deletion	Pathogenic
10	RAI1	NM_030665.3(RAI1): c.1992G> A (p.Pro664=)	single nucleotide variant	Benign	rs8067439	GRCh37	Chromosome 17, 17698254: 17698254
11	RAI1	NM_030665.3(RAI1): c.1992G> A (p.Pro664=)	single nucleotide variant	Benign	rs8067439	GRCh38	Chromosome 17, 17794940: 17794940
12	RAI1	NM_030665.3(RAI1): c.269G> C (p.Gly90Ala)	single nucleotide variant	Benign	rs3803763	GRCh37	Chromosome 17, 17696531: 17696531
13	RAI1	NM_030665.3(RAI1): c.269G> C (p.Gly90Ala)	single nucleotide variant	Benign	rs3803763	GRCh38	Chromosome 17, 17793217: 17793217
14	RAI1	NM_030665.3(RAI1): c.412delG (p.Val138Trpfs)	deletion	Pathogenic	rs398124419	GRCh37	Chromosome 17, 17696674: 17696674
15	RAI1	NM_030665.3(RAI1): c.412delG (p.Val138Trpfs)	deletion	Pathogenic	rs398124419	GRCh38	Chromosome 17, 17793360: 17793360
16	RAI1	NM_030665.3(RAI1): c.4311T> C (p.Pro1437=)	single nucleotide variant	Benign	rs4925112	GRCh37	Chromosome 17, 17700573: 17700573
17	RAI1	NM_030665.3(RAI1): c.4311T> C (p.Pro1437=)	single nucleotide variant	Benign	rs4925112	GRCh38	Chromosome 17, 17797259: 17797259
18	RAI1	NM_030665.3(RAI1): c.4512G> T (p.Leu1504=)	single nucleotide variant	Benign	rs117995220	GRCh37	Chromosome 17, 17700774: 17700774
19	RAI1	NM_030665.3(RAI1): c.4512G> T (p.Leu1504=)	single nucleotide variant	Benign	rs117995220	GRCh38	Chromosome 17, 17797460: 17797460
20	RAI1	NM_030665.3(RAI1): c.4530C> T (p.Pro1510=)	single nucleotide variant	Benign	rs35686634	GRCh37	Chromosome 17, 17700792: 17700792
21	RAI1	NM_030665.3(RAI1): c.4530C> T (p.Pro1510=)	single nucleotide variant	Benign	rs35686634	GRCh38	Chromosome 17, 17797478: 17797478
22	RAI1	NM_030665.3(RAI1): c.493C> A (p.Pro165Thr)	single nucleotide variant	Benign	rs11649804	GRCh37	Chromosome 17, 17696755: 17696755
23	RAI1	NM_030665.3(RAI1): c.493C> A (p.Pro165Thr)	single nucleotide variant	Benign	rs11649804	GRCh38	Chromosome 17, 17793441: 17793441
24	RAI1	NM_030665.3(RAI1): c.5601T> C (p.Ile1867=)	single nucleotide variant	Benign	rs3818717	GRCh37	Chromosome 17, 17707105: 17707105
25	RAI1	NM_030665.3(RAI1): c.5601T> C (p.Ile1867=)	single nucleotide variant	Benign	rs3818717	GRCh38	Chromosome 17, 17803791: 17803791
26	RAI1	NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter)	single nucleotide variant	Pathogenic	rs527236033	GRCh37	Chromosome 17, 17698535: 17698535
27	RAI1	NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter)	single nucleotide variant	Pathogenic	rs527236033	GRCh38	Chromosome 17, 17795221: 17795221
28	RAI1	NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter)	single nucleotide variant	Pathogenic	rs727504119	GRCh37	Chromosome 17, 17700940: 17700940
29	RAI1	NM_030665.3(RAI1): c.4678C> T (p.Arg1560Ter)	single nucleotide variant	Pathogenic	rs727504119	GRCh38	Chromosome 17, 17797626: 17797626
30	RAI1	NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter)	single nucleotide variant	Pathogenic	rs727504118	GRCh37	Chromosome 17, 17699845: 17699845
31	RAI1	NM_030665.3(RAI1): c.3583A> T (p.Lys1195Ter)	single nucleotide variant	Pathogenic	rs727504118	GRCh38	Chromosome 17, 17796531: 17796531
32	RAI1	NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter)	single nucleotide variant	Pathogenic	rs376044849	GRCh37	Chromosome 17, 17699543: 17699543
33	RAI1	NM_030665.3(RAI1): c.3281C> A (p.Ser1094Ter)	single nucleotide variant	Pathogenic	rs376044849	GRCh38	Chromosome 17, 17796229: 17796229
34	subset of 866 genes:BRCA1; COL1A1; EFTUD2; HNF1B; KANSL1; NF1; NOG; RAI1; RNF135; SOX9; TBX2; TBX4	NC_000017.10: g.17711738_217748468del200036731	deletion	Pathogenic		GRCh37	Chromosome 17, 17711738: 217748468
35	RAI1	NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs)	deletion	Pathogenic	rs886044681	GRCh37	Chromosome 17, 17699358: 17699358
36	RAI1	NM_030665.3(RAI1): c.3096delG (p.Gln1035Argfs)	deletion	Pathogenic	rs886044681	GRCh38	Chromosome 17, 17796044: 17796044
37	RAI1	NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn)	single nucleotide variant	Uncertain significance	rs1057519065	GRCh37	Chromosome 17, 17698010: 17698010
38	RAI1	NM_030665.3(RAI1): c.1748G> A (p.Ser583Asn)	single nucleotide variant	Uncertain significance	rs1057519065	GRCh38	Chromosome 17, 17794696: 17794696
39	RAI1	NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs)	deletion	Pathogenic	rs1135401792	GRCh38	Chromosome 17, 17795914: 17795917
40	RAI1	NM_030665.3(RAI1): c.2966_2969delAAGA (p.Lys989Serfs)	deletion	Pathogenic	rs1135401792	GRCh37	Chromosome 17, 17699228: 17699231
41	RAI1	NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs)	duplication	Pathogenic		GRCh37	Chromosome 17, 17700935: 17700935
42	RAI1	NM_030665.3(RAI1): c.4673dup (p.Arg1559Alafs)	duplication	Pathogenic		GRCh38	Chromosome 17, 17797621: 17797621
43	RAI1	NM_030665.3(RAI1): c.2469_2470insG (p.Leu825Alafs)	insertion	Pathogenic		GRCh37	Chromosome 17, 17698731: 17698732
44	RAI1	NM_030665.3(RAI1): c.2469_2470insG (p.Leu825Alafs)	insertion	Pathogenic		GRCh38	Chromosome 17, 17795417: 17795418

Copy number variations for Smith-Magenis Syndrome from CNVD:

⁷ (show all 17)

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	21481	17	15900000	22100000	Deletion	RAI1	Smith-Magenis syndrome
2	107514	17	15900000	22100000	Deletion		Smith-Magenis syndrome
3	107515	17	15900000	22100000	Deletion		Smith-Magenis syndrome
4	107516	17	15900000	22100000	Deletion	RAI1	Smith-Magenis syndrome
5	107517	17	15900000	22100000	Deletion	RAI1	Smith-Magenis syndrome
6	107518	17	15900000	22100000	Deletion	RAI1	Smith-Magenis syndrome
7	107545	17	15900000	22100000	Microdeletion		Smith-Magenis syndrome
8	107546	17	15900000	22100000	Microdeletion		Smith-Magenis syndrome
9	107547	17	15900000	22100000	Microdeletion		Smith-Magenis syndrome
10	107548	17	15900000	22100000	Microdeletion		Smith-Magenis syndrome
11	107549	17	15900000	22100000	Microdeletion		Smith-Magenis syndrome
12	107577	17	16000000	22200000	Deletion		Smith-Magenis syndrome
13	107878	17	17816923	17860898	Copy number	LRRC48	Smith-Magenis syndrome
14	107924	17	18069660	18088913	Copy number	LLGL1	Smith-Magenis syndrome
15	108853	17	23200000	28800000	Deletion		Smith-Magenis syndrome
16	160842	22	16300000	24300000	Microdeletion		Smith-Magenis syndrome
17	208608	6	17525511	17655490	Copy number	RAI1	Smith-Magenis syndrome

Sources

Expression for Smith-Magenis Syndrome

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

Sources

Pathways for Smith-Magenis Syndrome

Sources

GO Terms for Smith-Magenis Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of TOR signaling	GO:0032008	8.62	FLCN SMCR8

Sources

Sources for Smith-Magenis Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Smith-Magenis Syndrome (SMS)

Aliases & Classifications for Smith-Magenis Syndrome

MalaCards integrated aliases for Smith-Magenis Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Smith-Magenis Syndrome

Related Diseases for Smith-Magenis Syndrome

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

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

Symptoms & Phenotypes for Smith-Magenis Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Smith-Magenis Syndrome:

UMLS symptoms related to Smith-Magenis Syndrome:

Drugs & Therapeutics for Smith-Magenis Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: smith-magenis syndrome

Genetic Tests for Smith-Magenis Syndrome

Genetic tests related to Smith-Magenis Syndrome:

Anatomical Context for Smith-Magenis Syndrome

MalaCards organs/tissues related to Smith-Magenis Syndrome:

Publications for Smith-Magenis Syndrome

Articles related to Smith-Magenis Syndrome:

Genes for Smith-Magenis Syndrome

Genes related to Smith-Magenis Syndrome (4 elite genes):

Variations for Smith-Magenis Syndrome

ClinVar genetic disease variations for Smith-Magenis Syndrome:

Copy number variations for Smith-Magenis Syndrome from CNVD:

Expression for Smith-Magenis Syndrome

Pathways for Smith-Magenis Syndrome

GO Terms for Smith-Magenis Syndrome

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

Sources for Smith-Magenis Syndrome