Smith-Magenis Syndrome [Smithův-Magenisův syndrom]

topical
2
Terms

monosomie chromozomu 17p11.2

 

17p11.2 Monosomy
Chromosome 17p11.2 Deletion Syndrome

Persistent link   https://www.medvik.cz/link/D058496
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.

DUI
D058496 MeSH Browser
CUI
M0542890
History note
2011
Public note
2011

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 1
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 1
HI
history 0
IM
immunology 0
ME
metabolism 1
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 2
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C10 Nervous System Diseases 1 877
C10.281 Chronobiology Disorders 34
C10.281.440 Jet Lag Syndrome 28
C10.281.800 Sleep Disorders, Circadian Rhythm 102
C10.281.900 Smith-Magenis Syndrome 2
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 32
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 34
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 91
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.260 Chromosome Disorders 259
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 8
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 91
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 21
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.320 Genetic Diseases, Inborn 1 213
C16.320.180 Chromosome Disorders 259
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 8
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 91
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 21
C16.320.180.985 Wolf-Hirschhorn Syndrome

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