Prader-Willi Syndrome [Praderův-Williho syndrom]

topical
91
Terms

Prader-Labhart-Willi syndrom
Prader-Willi syndrom
Prader-Williho syndrom
Praderův-Labhartův-Williho-Fanconiho syndrom
Royerův syndrom

 

Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
Prader Labhart Willi Syndrome
Prader-Labhart-Willi Syndrome
Royer Syndrome
Royer's Syndrome
Willi-Prader Syndrome

Persistent link   https://www.medvik.cz/link/D011218
Definition

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

DUI
D011218 MeSH Browser
CUI
M0017431
Previous indexing
Mental Retardation (1966-1976); Abnormalities, Multiple (1968-1976); Carbohydrate Metabolism, Inborn Errors (1969-1976); Hypogonadism (1966-1976); Obesity (1966-1976)
History note
1977
Public note
1977

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 6
DI
diagnosis 40
DG
diagnostic imaging 0
DH
diet therapy 1
DT
drug therapy 21
EC
economics 1
EM
embryology 0
EN
enzymology 0
EP
epidemiology 2
EH
ethnology 0
ET
etiology 7
GE
genetics 31
HI
history 0
IM
immunology 0
ME
metabolism 2
MI
microbiology 0
MO
mortality 0
NU
nursing 1
PS
parasitology 0
PA
pathology 8
PP
physiopathology 5
PC
prevention & control 1
PX
psychology 1
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 18
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C10 Nervous System Diseases 1 877
C10.597 Neurologic Manifestations 1 051
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 027
C10.597.606.360.180 Cri-du-Chat Syndrome 11
C10.597.606.360.210 De Lange Syndrome 4
C10.597.606.360.220 Down Syndrome 510
C10.597.606.360.455 X-Linked Intellectual Disability 17
C10.597.606.360.690 Prader-Willi Syndrome 91
C10.597.606.360.700 Rubinstein-Taybi Syndrome 12
C10.597.606.360.835 Trisomy 13 Syndrome 6
C10.597.606.360.969 WAGR Syndrome 3
C10.597.606.360.970 Williams Syndrome 21
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
C16.320.447 Imprinting Disorders
C16.320.447.250 Angelman Syndrome 35
C16.320.447.375 Beckwith-Wiedemann Syndrome 17
C16.320.447.500 Prader-Willi Syndrome 91
C16.320.447.750 Silver-Russell Syndrome 3
C18 Nutritional and Metabolic Diseases 172
C18.654 Nutrition Disorders 1 030
C18.654.726 Overnutrition 39
C18.654.726.750 Overweight 506
C18.654.726.750.500 Obesity 7 190
C18.654.726.750.500.600 Obesity Hypoventilation Syndrome 22
C18.654.726.750.500.615 Obesity, Abdominal 80
C18.654.726.750.500.633 Pregnancy in Obesity 10
C18.654.726.750.500.650 Obesity, Metabolically Benign 8
C18.654.726.750.500.700 Obesity, Morbid 449
C18.654.726.750.500.720 Pediatric Obesity 292
C18.654.726.750.500.740 Prader-Willi Syndrome 91

Back Add