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encyclopedia of Rare Disease Annotation for Precision Medicine



   smith magenis syndrome
  

Disease ID 584
Disease smith magenis syndrome
Definition
A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
Synonym
chromosome 17p11.2 deletion syndrome
magenis smith syndrome
magenis syndrome smith
smith-magenis syndrome
smith-magenis syndrome (disorder)
smith-magenis syndrome [disease/finding]
sms
syndrome, smith-magenis
Orphanet
OMIM
UMLS
C0795864
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:6)
C0037317  |  sleep disturbance  |  3
C0036439  |  scoliosis  |  2
C0037317  |  sleep disturbances  |  2
C0019284  |  diaphragmatic hernia  |  1
C1868720  |  periventricular nodular heterotopia  |  1
C0025362  |  mental retardation  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
10743  |  RAI1  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
4239  |  MFAP4  |  UNIPROT
2314  |  FLII  |  ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
4239  |  MFAP4  |  CIPHER
23495  |  TNFRSF13B  |  CIPHER
10743  |  RAI1  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:42)
406  |  ARNTL  |  1.618  |  DISEASES
546  |  ATRX  |  1.318  |  DISEASES
627  |  BDNF  |  1.574  |  DISEASES
65250  |  C5orf42  |  3.601  |  DISEASES
203228  |  C9orf72  |  1.02  |  DISEASES
2826  |  CCR10  |  4.085  |  DISEASES
1139  |  CHRNA7  |  2.022  |  DISEASES
1408  |  CRY2  |  2.143  |  DISEASES
10522  |  DEAF1  |  3.915  |  DISEASES
79813  |  EHMT1  |  2.46  |  DISEASES
2253  |  FGF8  |  1.68  |  DISEASES
2314  |  FLII  |  3.637  |  DISEASES
2731  |  GLDC  |  2.511  |  DISEASES
2934  |  GSN  |  1.227  |  DISEASES
23560  |  GTPBP4  |  1.884  |  DISEASES
23096  |  IQSEC2  |  3.171  |  DISEASES
152789  |  JAKMIP1  |  3.651  |  DISEASES
3768  |  KCNJ12  |  4.535  |  DISEASES
8242  |  KDM5C  |  2.414  |  DISEASES
3996  |  LLGL1  |  3.944  |  DISEASES
4010  |  LMX1B  |  1.97  |  DISEASES
4094  |  MAF  |  1.373  |  DISEASES
55777  |  MBD5  |  2.301  |  DISEASES
4204  |  MECP2  |  1.814  |  DISEASES
4239  |  MFAP4  |  4.039  |  DISEASES
4692  |  NDN  |  1.983  |  DISEASES
4929  |  NR4A2  |  1.522  |  DISEASES
64324  |  NSD1  |  1.893  |  DISEASES
56953  |  NT5M  |  3.024  |  DISEASES
8863  |  PER3  |  3.039  |  DISEASES
5309  |  PITX3  |  2.05  |  DISEASES
116442  |  RAB39B  |  3.068  |  DISEASES
10743  |  RAI1  |  7.804  |  DISEASES
7732  |  RNF112  |  3.877  |  DISEASES
8036  |  SHOC2  |  2.451  |  DISEASES
140775  |  SMCR8  |  3.511  |  DISEASES
692232  |  SNORD3@  |  4.688  |  DISEASES
6720  |  SREBF1  |  1.714  |  DISEASES
6942  |  TCF20  |  2.552  |  DISEASES
7156  |  TOP3A  |  1.85  |  DISEASES
8408  |  ULK1  |  1.809  |  DISEASES
157680  |  VPS13B  |  2.973  |  DISEASES
Locus(Waiting for update.)
Disease ID 584
Disease smith magenis syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:9)
HP:0001252  |  Hypotonia
HP:0000733  |  Repetitive movements
HP:0001249  |  Mental retardation
HP:0004322  |  Stature below 3rd percentile
HP:0000742  |  Self-mutilation
HP:0001609  |  Hoarseness
HP:0002360  |  Sleep disturbance
HP:0001156  |  Brachydactyly
HP:0000752  |  Hyperactive behavior
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
HP:0002360  |  Sleep disturbance  |  3
HP:0002650  |  Scoliosis  |  2
HP:0000776  |  Diaphragmatic hernia  |  1
HP:0100790  |  Hernia  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002282  |  Heterotopias  |  1
HP:0001249  |  Mental retardation  |  1
Disease ID 584
Disease smith magenis syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0037317  |  sleep disturbance  |  3
C0036439  |  scoliosis  |  2
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
RAI1NM_030665.3: c.840delG, p.(Gln280Hisfs*84)doi:10.1038/gim.2016.153A comprehensive strategy for exome-based preconception carrier screening
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:6)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894633NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717798371GA
rs104894634NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717797633AG
rs376044849NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717796229CT
rs527236033NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717795221GA
rs727504118NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717796531AT
rs727504119NA10743RAI1umls:C0795864CLINVARNA0.448957582NARAI11717797626CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0000733Stereotypic behaviorMP:0012312impaired avoidance learning behaviorimpaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
Mapped by homologous gene(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000733Stereotypic behaviorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002360Sleep disturbanceMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0001609Hoarse voiceMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001156Brachydactyly syndromeMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000752HyperactivityMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000742Self-mutilationMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
Disease ID 584
Disease smith magenis syndrome
Case(Waiting for update.)