Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandChromosome Disorders (D025063)
Parent Node:
expandChronobiology Disorders (D021081)
..Starting node
..expandSmith-Magenis Syndrome (D058496)

       Child Nodes:
........expandPotocki-Lupski syndrome (C538355)



 Sister Nodes: 
..expandJet Lag Syndrome (D020179)
..expandSleep Disorders, Circadian Rhythm (D020178) Child2
..expandSmith-Magenis Syndrome (D058496) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10326
Name:Smith-Magenis Syndrome
Definition:Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Alternative IDs:OMIM:182290
ParentIDs:MESH:D000015|MESH:D021081|MESH:D025063
TreeNumbers:C10.281.900 |C16.131.077.879 |C16.131.260.887 |C16.320.180.887
Synonyms:17p11.2 Monosomy |Chromosome 17p11.2 Deletion Syndrome |CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS CHROMOSOME REGION, INCLUDED |SMCR, INCLUDED |Smith Magenis Syndrome |SMS |Syndrome, Smith-Magenis
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D058496
MeSH: D058496
OMIM: 182290;

Genes: RAI1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001627Abnormal heart morphology
3 HP:0012210Abnormal renal morphology
4 HP:0005607Abnormal tracheobronchial morphologyHP:0040282
5 HP:0030680Abnormality of cardiovascular system morphologyHP:0040282
6 HP:0000164Abnormality of the dentitionHP:0040282
7 HP:0002973Abnormality of the forearmHP:0040283
8 HP:0002715Abnormality of the immune systemHP:0040282
9 HP:0001600Abnormality of the larynxHP:0040282
10 HP:0000356Abnormality of the outer earHP:0040282
11 HP:0000820Abnormality of the thyroid glandHP:0040282
12 HP:0000079Abnormality of the urinary systemHP:0040283
13 HP:0001284Areflexia
14 HP:0000248BrachycephalyHP:0040282
15 HP:0001156BrachydactylyHP:0040282
16 HP:0000283Broad faceHP:0040282
17 HP:0001169Broad palmHP:0040282
18 HP:0002019ConstipationHP:0040282
19 HP:0000490Deeply set eyeHP:0040282
20 HP:0000750Delayed speech and language developmentHP:0040282
21 HP:0002353EEG abnormalityHP:0040282
22 HP:0010803Everted upper lip vermilionHP:0040282
23 HP:0001290Generalized hypotoniaHP:0040282
24 HP:0001263Global developmental delayHP:0040282
25 HP:0012168Head-banging
26 HP:0000365Hearing impairmentHP:0040282
27 HP:0001609Hoarse voiceHP:0040282
28 HP:0000752HyperactivityHP:0040282
29 HP:0010780HyperacusisHP:0040282
30 HP:0003124HypercholesterolemiaHP:0040282
31 HP:0002155HypertriglyceridemiaHP:0040282
32 HP:0001265HyporeflexiaHP:0040282
33 HP:0007328Impaired pain sensationHP:0040282
34 HP:0001249Intellectual disability
35 HP:0000272Malar flatteningHP:0040282
36 HP:0000303Mandibular prognathiaHP:0040282
37 HP:0011800Midface retrusion
38 HP:0008609Morphological abnormality of the middle earHP:0040282
39 HP:0000202Oral cleftHP:0040283
40 HP:0001763Pes planusHP:0040282
41 HP:0000541Retinal detachmentHP:0040283
42 HP:0002650ScoliosisHP:0040282
43 HP:0001250SeizureHP:0040282
44 HP:0000742Self-mutilationHP:0040282
45 HP:0004279Short palmHP:0040282
46 HP:0004322Short statureHP:0040282
47 HP:0002360Sleep disturbanceHP:0040282
48 HP:0003745Sporadic
49 HP:0000733StereotypyHP:0040282
50 HP:0000664SynophrysHP:0040282
51 HP:0000220Velopharyngeal insufficiencyHP:0040282
52 HP:0002119VentriculomegalyHP:0040282
53 HP:0000431Wide nasal bridgeHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_030665.3(RAI1):c.2273G>A (p.Trp758Ter)10743RAI1Pathogenic527236033RCV000132731; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004171769853517698535NM_030665.3:c.2273G>ANP_109590.3:p.Trp758TerNC_000017.10:g.17698535G>A-C0795864 182290 Smith-Magenis syndrome
NM_030665.3(RAI1):c.3281C>A (p.Ser1094Ter)10743RAI1Pathogenic376044849RCV000177362; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004171769954317699543NM_030665.3:c.3281C>ANP_109590.3:p.Ser1094TerNC_000017.10:g.17699543C>A-C0795864 182290 Smith-Magenis syndrome
NM_030665.3(RAI1):c.3583A>T (p.Lys1195Ter)10743RAI1Pathogenic727504118RCV000153804; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004171769984517699845NM_030665.3:c.3583A>TNP_109590.3:p.Lys1195TerNC_000017.10:g.17699845A>T-C0795864 182290 Smith-Magenis syndrome
NM_030665.3(RAI1):c.4678C>T (p.Arg1560Ter)10743RAI1Pathogenic727504119RCV000177370; RCV000153806; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004; MedGen:CN221809171770094017700940NM_030665.3:c.4678C>TNP_109590.3:p.Arg1560TerNC_000017.10:g.17700940C>T-CN221809 not provided; C0795864 182290 Smith-Magenis syndrome
NM_030665.3(RAI1):c.4685A>G (p.Gln1562Arg)10743RAI1Pathogenic104894634RCV000003084; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004171770094717700947NM_030665.3:c.4685A>GNP_109590.3:p.Gln1562ArgNC_000017.10:g.17700947A>GOMIM Allelic Variant:607642.0005C0795864 182290 Smith-Magenis syndrome
NM_030665.3(RAI1):c.5423G>A (p.Ser1808Asn)10743RAI1Pathogenic104894633RCV000003083; NMedGen:C0795864,OMIM:182290,ORPHA:819,SNOMED CT:401315004171770168517701685NM_030665.3:c.5423G>ANP_109590.3:p.Ser1808AsnNC_000017.10:g.17701685G>AOMIM Allelic Variant:607642.0004C0795864 182290 Smith-Magenis syndrome