MCID: PRD006
MIFTS: 66

Prader-Willi Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Prader-Willi Syndrome

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 53 12 72 23 49 24 55 36 28 13 51 40 41 14
Prader-Labhart-Willi Syndrome 53 23 49 24 55
Pws 53 23 49 24
Willi-Prader Syndrome 49 24 55
Prader Willi Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Miscellaneous:
temperature instability
high pain threshold
excessive skin picking of sores
food related behavioral problems include excessive appetite and obsession with eating
decreased fetal activity
breech position
behavioral problems including stubbornness and rage
sleep disturbance or sleep apnea (obstructive, central, or mixed)
unusual skill with jigsaw puzzle

Inheritance:
isolated cases


HPO:

31
prader-willi syndrome:
Inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is complete...

Classifications:



Summaries for Prader-Willi Syndrome

MedlinePlus : 40 Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include Short stature Poor motor skills Weight gain Underdeveloped sex organs Mild intellectual and learning disabilities There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to prader-willi syndrome due to maternal uniparental disomy of chromosome 15 and prader-willi syndrome due to imprinting mutation, and has symptoms including ataxia, seizures and obesity. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways/superpathways are Adipogenesis and Circadian rythm related genes. The drugs Fentanyl and Propofol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotype is adipose tissue.

Genetics Home Reference : 24 Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

NIH Rare Diseases : 49 Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms. Last updated: 7/7/2016

OMIM : 53 Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features. (176270)

GeneReviews: NBK1330

Related Diseases for Prader-Willi Syndrome

Diseases in the Prader-Willi Syndrome family:

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Prader-Willi Syndrome Due to Translocation Prader-Willi Syndrome Due to Imprinting Mutation
Prader-Willi-Like Syndrome Due to a Point Mutation Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 34.7 MAGEL2 NDN SNRPN
2 prader-willi syndrome due to imprinting mutation 34.4 MAGEL2 NDN SNRPN
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 34.4 MAGEL2 NDN SNRPN
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 34.4 MAGEL2 NDN SNRPN
5 angelman syndrome 33.2 GABRA5 GABRB3 MAGEL2 NDN NIPA2 NPAP1
6 autism 31.5 GABRA5 GABRB3 MAGEL2 NDN SNRPN UBE3A
7 autism spectrum disorder 31.4 GABRA5 GABRB3 MAGEL2 UBE3A
8 sleep apnea 31.4 GHRL IGF1 LEP
9 central precocious puberty 31.2 IGF1 LEP MKRN3
10 schaaf-yang syndrome 12.3
11 prader-willi syndrome due to translocation 12.2
12 prader-willi syndrome due to paternal 15q11q13 deletion 12.2
13 hypotonia 11.6
14 parkes weber syndrome 11.4
15 prader-willi habitus, osteopenia, and camptodactyly 11.3
16 childhood apraxia of speech 11.3
17 floppy infant syndrome 11.3
18 infantile hypotonia 11.3
19 body mass index quantitative trait locus 11 10.9
20 body mass index quantitative trait locus 9 10.9
21 body mass index quantitative trait locus 8 10.9
22 body mass index quantitative trait locus 7 10.9
23 body mass index quantitative trait locus 12 10.9
24 body mass index quantitative trait locus 14 10.9
25 body mass index quantitative trait locus 18 10.9
26 body mass index quantitative trait locus 4 10.9
27 body mass index quantitative trait locus 10 10.9
28 chromosome 15q13.3 deletion syndrome 10.8 NPAP1 UBE3A
29 angelman syndrome due to imprinting defect in 15q11-q13 10.7 SNRPN UBE3A
30 nutritional deficiency disease 10.6 GHRL IGF1 LEP
31 bulimia nervosa 2 10.6 GHRL IGF1 LEP
32 overnutrition 10.6 GHRL IGF1 LEP
33 glucose metabolism disease 10.6 GHRL IGF1 LEP
34 acquired metabolic disease 10.6 GHRL IGF1 LEP
35 chromosomal disease 10.6 GABRB3 IPW MAGEL2 MKRN3 NDN SNRPN
36 childhood absence epilepsy 10.5 GABRA5 GABRB3 NIPA2
37 aging 10.5
38 obesity, hyperphagia, and developmental delay 10.5
39 hyperinsulinism 10.5 GHRL IGF1 LEP
40 scoliosis 10.5
41 idiopathic central precocious puberty 10.5 IGF1 MKRN3
42 glucose intolerance 10.5 GHRL IGF1 LEP
43 morbid obesity 10.5
44 diabetes mellitus 10.4
45 sleep disorder 10.4
46 neuronitis 10.4
47 body mass index quantitative trait locus 1 10.4
48 hypogonadism 10.4
49 polycystic ovary syndrome 10.4 GHRL IGF1 LEP
50 williams-beuren syndrome 10.3

Graphical network of the top 20 diseases related to Prader-Willi Syndrome:



Diseases related to Prader-Willi Syndrome

Symptoms & Phenotypes for Prader-Willi Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
sleep disturbances
seizures
global developmental delay
poor fine motor coordination
poor gross motor coordination
more
Skeletal:
osteopenia
osteoporosis

Head And Neck Eyes:
strabismus
myopia
hyperopia
upslanting palpebral fissures
almond-shaped eyes

Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hyperinsulinemia
growth hormone deficiency
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
scrotal hypoplasia
hypogonadotropic hypogonadism
small penis

Genitourinary External Genitalia Female:
hypoplastic labia minora
hypoplastic clitoris

Head And Neck Mouth:
thin upper lip
small-appearing mouth
down-turned corners of mouth
thick, viscous saliva

Voice:
hypernasal speech
weak or squeaky cry in infancy

Head And Neck Face:
narrow bitemporal diameter

Abdomen Gastroin testinal:
feeding problems in infancy requiring gavage feeds
decreased vomiting

Skin Nails Hair Hair:
blonde to light brown hair
frontal hair upsweep

Skeletal Hands:
clinodactyly
syndactyly
small hands (<25th percentile for height age)
narrow hands with straight ulnar border

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
dolichocephaly

Growth Weight:
failure to thrive in infancy
onset of obesity from 6 months to 6 years
central obesity

Respiratory:
hypoventilation
hypoxia

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

Growth Height:
normal birth length
length deceleration in first few months
mean adult male height, 155 cm
mean adult female height, 147 cm
steady childhood growth
more
Skin Nails Hair Skin:
fair skin
sun sensitivity

Skin Nails Hair:
hypopigmentation

Head And Neck Teeth:
early dental caries

Skeletal Feet:
small feet (<10th percentile for height age)


Clinical features from OMIM:

176270

Human phenotypes related to Prader-Willi Syndrome:

55 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 seizures 55 31 very rare (1%) Frequent (79-30%) HP:0001250
3 obesity 55 31 hallmark (90%) Frequent (79-30%) HP:0001513
4 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
5 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
6 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
7 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
8 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
9 global developmental delay 55 31 hallmark (90%) Frequent (79-30%) HP:0001263
10 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
11 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 55 31 hallmark (90%) Frequent (79-30%) HP:0004322
13 type i diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0100651
14 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
15 short palm 55 31 hallmark (90%) Frequent (79-30%) HP:0004279
16 cryptorchidism 55 31 very rare (1%) Frequent (79-30%) HP:0000028
17 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
18 specific learning disability 55 31 hallmark (90%) Frequent (79-30%) HP:0001328
19 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Frequent (79-30%) HP:0000044
20 glomerulopathy 55 31 frequent (33%) Frequent (79-30%) HP:0100820
21 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
22 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
23 hypoplasia of the ear cartilage 55 31 frequent (33%) Frequent (79-30%) HP:0100720
24 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
25 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
26 downturned corners of mouth 55 31 frequent (33%) Frequent (79-30%) HP:0002714
27 bilateral single transverse palmar creases 55 31 frequent (33%) Frequent (79-30%) HP:0007598
28 abnormality of dental enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000682
29 hypoplasia of penis 55 31 frequent (33%) Frequent (79-30%) HP:0008736
30 abnormal hair pattern 55 31 frequent (33%) Frequent (79-30%) HP:0010720
31 clinodactyly 31 HP:0030084
32 precocious puberty 31 very rare (1%) HP:0000826
33 osteopenia 31 occasional (7.5%) HP:0000938
34 kyphosis 31 frequent (33%) HP:0002808
35 sleep apnea 31 frequent (33%) HP:0010535
36 hip dysplasia 31 very rare (1%) HP:0001385
37 recurrent respiratory infections 31 frequent (33%) HP:0002205
38 type ii diabetes mellitus 31 very rare (1%) HP:0005978
39 carious teeth 31 occasional (7.5%) HP:0000670
40 delayed speech and language development 31 hallmark (90%) HP:0000750
41 feeding difficulties in infancy 31 HP:0008872
42 delayed puberty 31 frequent (33%) HP:0000823
43 osteoporosis 31 occasional (7.5%) HP:0000939
44 decreased muscle mass 31 frequent (33%) HP:0003199
45 dolichocephaly 31 HP:0000268
46 short foot 31 hallmark (90%) HP:0001773
47 autism 31 very rare (1%) HP:0000717
48 attention deficit hyperactivity disorder 31 frequent (33%) HP:0007018
49 primary amenorrhea 31 very rare (1%) HP:0000786
50 failure to thrive in infancy 31 hallmark (90%) HP:0001531

MGI Mouse Phenotypes related to Prader-Willi Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.1 GHRL HERC2 IGF1 LEP MAGEL2 SNRPN

Drugs & Therapeutics for Prader-Willi Syndrome

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

(show top 50) (show all 253)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 1 437-38-7 3345
2
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1 2078-54-8 4943
3
Rocuronium Approved Phase 4,Phase 3,Phase 1,Phase 2 119302-91-9, 143558-00-3 441290
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
6
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
7
Acetaminophen Approved Phase 4 103-90-2 1983
8
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
9
Orphenadrine Approved Phase 4 83-98-7 4601
10
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
11
Succinylcholine Approved Phase 4 306-40-1 5314
12
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
13
Neostigmine Approved, Vet_approved Phase 4,Phase 1,Phase 2 59-99-4 4456
14
Memantine Approved, Investigational Phase 4 19982-08-2 4054
15
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
16
Norepinephrine Approved Phase 4 51-41-2 439260
17
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
18
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
19
Lidocaine Approved, Vet_approved Phase 4,Phase 1 137-58-6 3676
20 Adjuvants, Anesthesia Phase 4,Phase 2,Phase 3
21 Analgesics Phase 4,Phase 2
22 Analgesics, Opioid Phase 4,Phase 2
23 Anesthetics Phase 4,Phase 2,Phase 3
24 Anesthetics, General Phase 4,Phase 2,Phase 3
25 Anesthetics, Inhalation Phase 4
26 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3
27 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
28 Bromides Phase 4
29 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
30 Hypnotics and Sedatives Phase 4,Phase 2
31 Narcotics Phase 4,Phase 2,Phase 3
32 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
33 Neuromuscular Blocking Agents Phase 4,Phase 3,Phase 1,Phase 2
34 Neuromuscular Nondepolarizing Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Platelet Aggregation Inhibitors Phase 4
37 Anticholesteremic Agents Phase 4
38 Antimetabolites Phase 4,Phase 1,Phase 2
39 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
40 Hypolipidemic Agents Phase 4,Phase 1,Phase 2
41 Lipid Regulating Agents Phase 4,Phase 1,Phase 2
42 Hormone Antagonists Phase 4,Phase 3
43 Hormones Phase 4,Phase 3,Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Anti-Obesity Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Dopamine Agents Phase 4,Phase 3,Phase 2
48 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
49 Hypoglycemic Agents Phase 4,Phase 3
50 Incretins Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 293)

# Name Status NCT ID Phase Drugs
1 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on Anesthesia in Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
2 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Phase 4 Rocuronium
3 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
4 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Completed NCT02449369 Phase 4 Preop acetaminophen IV;Preop orphenadrine IV;Postop oral oxycodone & acetaminophen;Postop hydromorphone IV;Postop oral orphenadrine;Postop oral oxycodone;Postop acetaminophen IV;Postop orphenadrine IV
5 Fade Upon TOF Stimulation Induced by Succinylcholine Completed NCT02425449 Phase 4 Succinylcholine
6 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
7 0.6 vs. 1.2 mg Atropine Together With Neostigmine 2.5 mg on Heart Rate in Patient Receiving Muscle Relaxant Completed NCT02186132 Phase 4 Atropine 0.6 mg;Atropine 1.2 mg
8 Treatment of Binge Eating in Obese Patients in Primary Care Completed NCT00537810 Phase 4 Sibutramine;Placebo
9 An Open-Label Trial of Memantine in the Treatment of Binge Eating Disorder Completed NCT00330655 Phase 4 memantine
10 Atomoxetine in the Treatment of Binge Eating Disorder Completed NCT00327834 Phase 4 atomoxetine
11 Influence of Appetite Related Hormones in Binge Eating Behaviour Among the Overweight and Obese Completed NCT01739049 Phase 4 Liraglutide
12 Study of Duloxetine vs Placebo in Treatment of Binge Eating Disorder With Depression Completed NCT00607789 Phase 4 Duloxetine;Placebo
13 Study of Behavioral Weight Loss Therapy for Obesity and Binge Eating in Monolingual Hispanic Persons Completed NCT00516919 Phase 4 Xenical + behavioral intervention
14 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
15 Evaluation of the Efficacy of Serotoninergic Antidepressants in Bulimia Nervosa, According to Brain Serotonin Profile Determined by Positron Emission Tomography With [18F] MPPF. Recruiting NCT02359513 Phase 4 Antidepressants;Positron Emission Tomography (PET)
16 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant on Sore Throat and Hemodynamics Not yet recruiting NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
17 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
18 The Dose-Response Relationship of Rocuronium in Patients Taking Pyridostigmine Withdrawn NCT02157545 Phase 4
19 Topiramate Augmentation in Bulimia Nervosa Partial Responders Withdrawn NCT00988481 Phase 4 Topiramate
20 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Unknown status NCT02204163 Phase 3 Eutropin;Genotropin
21 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
22 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
23 Low-Dose Leptin and the Formerly-Obese Unknown status NCT00073242 Phase 3 Leptin;T3 repletion
24 Supreme-LMA for Neonatal Resuscitation: a Prospective, Randomized Single-center Study Unknown status NCT01963936 Phase 3
25 Improving Patient Outcome in Group Therapy for Eating Disorders Unknown status NCT01693237 Phase 2, Phase 3
26 Clinical Trial on Binge Eating Disorder, Treatment With Naloxone Spray Unknown status NCT01567670 Phase 2, Phase 3 Naloxone;naloxone placebo
27 The Efficacy of Readiness and Motivation Therapy in Individuals With Anorexia Nervosa and Bulimia Nervosa Unknown status NCT00220662 Phase 3
28 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Completed NCT02810483 Phase 3 Topiramate;Placebo Comparator
29 Skeletal Muscle Paralysis in Hypothermic Patients After Cardiac Arrest Completed NCT01719770 Phase 3 rocuronium
30 Sodium Oxybate in the Treatment of Binge Eating Disorder Completed NCT00514995 Phase 2, Phase 3 Sodium Oxybate
31 Acamprosate in the Treatment of Binge-Eating Disorder Completed NCT00511940 Phase 2, Phase 3 acamprosate
32 An Efficacy and Tolerability Study for Topiramate in Obese Patients With Binge Eating Disorder. Completed NCT00307619 Phase 3 topiramate
33 Dasotraline Binge Eating Disorder Study Completed NCT02564588 Phase 2, Phase 3 Dasotraline;Placebo
34 Evaluate the Maintenance of Efficacy of SPD489 in Adults Aged 18-55 Years With Moderate to Severe Binge Eating Disorder Completed NCT02009163 Phase 3 Lisdexamfetamine dimesylate
35 SPD489 in Adults Aged 18-55 Years With Moderate to Severe Binge Eating Disorder Completed NCT01718509 Phase 3 SPD489 (Lisdexamfetamine dimesylate);Placebo
36 SPD489 in Adults Aged 18-55 Years With Moderate to Severe Binge Eating Disorder Completed NCT01718483 Phase 3 SPD489 (Lisdexamfetamine dimesylate);Placebo
37 Open Label Extension in Adults With Binge Eating Disorder (BED) Completed NCT01657019 Phase 3 Lisdexamfetamine dimesylate
38 Efficacy Study of Lisdexamfetamine to Treat Binge Eating Disorder Completed NCT01090713 Phase 3 lisdexamfetamine;Placebo control
39 A Study to Examine the Efficacy and Safety of Meridia® (Sibutramine Hydrochloride) in Binge-Eating Disorder Completed NCT00402584 Phase 3 sibutramine
40 Armodafinil in Binge Eating Disorder (BED) Completed NCT01010789 Phase 3 Armodafinil;Armodafinil;Matching placebo
41 Meditation-Based Treatment for Binge Eating Disorder Completed NCT00032760 Phase 2, Phase 3
42 Craving, Binge Eating and Obesity Completed NCT00414167 Phase 2, Phase 3 bupropion
43 Lamotrigine in the Treatment of Binge Eating Disorder Associated With Obesity Completed NCT00277641 Phase 3 Lamotrigine;placebo
44 Zonegran in the Treatment of Binge Eating Disorder Associated With Obesity Completed NCT00221442 Phase 3 Zonegran;sugar pill
45 A Study of the Effectiveness and Safety of Topiramate in the Treatment of Moderate to Severe Binge-eating Disorder Associated With Obesity Completed NCT00210808 Phase 2, Phase 3 topiramate
46 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Recruiting NCT02804373 Phase 2, Phase 3 Oxytocin continuous;Placebo;Placebo continuous;Oxytocin
47 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome Recruiting NCT02527200 Phase 3 liraglutide;placebo
48 Binge Eating Liraglutide Intervention Recruiting NCT03279731 Phase 3 Liraglutide (Saxenda) 6Mg/Ml Inj Pen 3Ml;Placebo
49 Healthy Approach to weIght Management and Food in Eating Disorders (HAPIFED) Recruiting NCT02464345 Phase 2, Phase 3
50 Behavioral and Pharmacologic Treatment of Binge Eating and Obesity: Acute Treatment Recruiting NCT03045341 Phase 2, Phase 3 NB medication (Naltrexone Bupropion combination)

Search NIH Clinical Center for Prader-Willi Syndrome

Cochrane evidence based reviews: prader-willi syndrome

Genetic Tests for Prader-Willi Syndrome

Genetic tests related to Prader-Willi Syndrome:

# Genetic test Affiliating Genes
1 Prader-Willi Syndrome 28 HERC2 IPW MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 SNRPN

Anatomical Context for Prader-Willi Syndrome

MalaCards organs/tissues related to Prader-Willi Syndrome:

38
Brain, Testes, Skin, Bone, Liver, Heart, Eye

Publications for Prader-Willi Syndrome

Articles related to Prader-Willi Syndrome:

(show top 50) (show all 864)
# Title Authors Year
1
Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. ( 29376887 )
2018
2
Eye Tracking as a Marker of Hyperphagia in Prader-Willi Syndrome. ( 29412007 )
2018
3
Bone mineral density in young adults with Prader-Willi syndrome: a randomized, placebo-controlled, cross-over GH trial. ( 29418016 )
2018
4
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. ( 29401073 )
2018
5
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. ( 29271568 )
2018
6
Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. ( 29318372 )
2018
7
The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS). ( 29309382 )
2018
8
Analysis of Circulating Mediators of Bone Remodeling in Prader-Willi Syndrome. ( 29353451 )
2018
9
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
10
Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome. ( 29371863 )
2018
11
Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. ( 29433608 )
2018
12
Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. ( 29437285 )
2018
13
Prader-Willi syndrome: a nest for premature coronary artery disease? ( 29437709 )
2018
14
Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here? ( 29376891 )
2018
15
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
16
AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial. ( 29320575 )
2018
17
Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. ( 29324255 )
2018
18
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. ( 29352661 )
2018
19
Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report. ( 29335890 )
2018
20
Physical activity and maximal oxygen uptake in adults with Prader-Willi syndrome. ( 28299717 )
2017
21
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? ( 27941250 )
2017
22
Clinical and Molecular Characterization of Prader-Willi Syndrome. ( 28660389 )
2017
23
Cognition in people with Prader-Willi syndrome: Insights into genetic influences on cognitive and social development. ( 27836461 )
2017
24
Hedonic eating in Prader-Willi syndrome is associated with blunted PYY secretion. ( 28659728 )
2017
25
Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study. ( 28264487 )
2017
26
A Review of the Safety, Efficacy and Mechanisms of Delivery of Nasal Oxytocin in Children: Therapeutic Potential for Autism and Prader-Willi Syndrome, and Recommendations for Future Research. ( 28721467 )
2017
27
Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome. ( 28331554 )
2017
28
Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype. ( 29440778 )
2017
29
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. ( 28487784 )
2017
30
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. ( 27941249 )
2017
31
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly. ( 28266014 )
2017
32
Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study. ( 29390364 )
2017
33
Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. ( 28592997 )
2017
34
Long-term health outcomes in patients with Prader-Willi Syndrome: a nationwide cohort study in Denmark. ( 28634363 )
2017
35
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy. ( 28746920 )
2017
36
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability: A Case Study. ( 28383347 )
2017
37
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
38
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum. ( 28638668 )
2017
39
"La Monstrua Desnuda": an artistic textbook representation of Prader-Willi syndrome in a painting of Juan CarreA+o de Miranda (1680). ( 28239764 )
2017
40
Prader-Willi Syndrome: Background and Management. ( 28494825 )
2017
41
Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. ( 28682308 )
2017
42
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience. ( 28854950 )
2017
43
Evaluating the Feasibility of a Play-Based Telehealth Intervention Program for Children with Prader-Willi Syndrome. ( 28612246 )
2017
44
Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass. ( 28503414 )
2017
45
Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay. ( 28296064 )
2017
46
Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome. ( 28338743 )
2017
47
Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens. ( 28427039 )
2017
48
Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis. ( 28510708 )
2017
49
Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2. ( 28626083 )
2017
50
Circulating angiopoietin-like 8 (ANGPTL8) is a marker of liver steatosis and is negatively regulated by Prader-Willi Syndrome. ( 28600576 )
2017

Variations for Prader-Willi Syndrome

ClinVar genetic disease variations for Prader-Willi Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 23 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.(?_23707435)_(28520316_?)del deletion Pathogenic GRCh37 Chromosome 15, 23707435: 28520316

Copy number variations for Prader-Willi Syndrome from CNVD:

7 (show all 45)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13742 1 1 27800000 Deletion Prader-willi syndrome
2 89246 15 17000000 23300000 Copy number SNRPN Prader-willi syndrome
3 89251 15 17000000 31400000 Copy number Prader-willi syndrome
4 89253 15 17000000 31400000 Copy number C15orf2 Prader-willi syndrome
5 89254 15 17000000 31400000 Copy number NDN Prader-willi syndrome
6 89255 15 17000000 31400000 Copy number SNORD Prader-willi syndrome
7 89256 15 17000000 31400000 Copy number SNRPN Prader-willi syndrome
8 89261 15 17000000 31400000 Deletion Prader-willi syndrome
9 89262 15 17000000 31400000 Deletion Prader-willi syndrome
10 89263 15 17000000 31400000 Deletion Prader-willi syndrome
11 89267 15 17000000 31400000 Deletion UBE3A Prader-willi syndrome
12 89283 15 17000000 31400000 Duplication NDN Prader-willi syndrome
13 89285 15 17000000 31400000 Duplication SNRPN Prader-willi syndrome
14 89286 15 17000000 31400000 Duplication SNRPN Prader-willi syndrome
15 89289 15 17000000 31400000 Duplication UBE3A Prader-willi syndrome
16 89290 15 17000000 31400000 Duplication UBE3A Prader-willi syndrome
17 89292 15 17000000 31400000 Genomic rearrangemen t Prader-willi syndrome
18 89294 15 17000000 31400000 Microdeletion Prader-willi syndrome
19 89295 15 17000000 31400000 Microdeletion Prader-willi syndrome
20 89296 15 17000000 31400000 Microdeletion Prader-willi syndrome
21 89298 15 17000000 31400000 Microdeletion SNRPN Prader-willi syndrome
22 89413 15 18400000 23300000 Deletion Prader-willi syndrome
23 89434 15 18400000 31400000 Deletion Prader-willi syndrome
24 89562 15 18683000 27286000 Deletion Prader-willi syndrome
25 89763 15 19000000 33600000 Copy number Prader-willi syndrome
26 90357 15 21481646 21483543 Copy number NDN Prader-willi syndrome
27 90510 15 22619886 22795318 Copy number SNRPN Prader-willi syndrome
28 90529 15 22835594 23010179 Microdeletion HBII-85 Prader-willi syndrome
29 90530 15 22835594 23010179 Microdeletion SNURF Prader-willi syndrome
30 90531 15 22835594 23010179 Microdeletion SNRPN Prader-willi syndrome
31 90532 15 22835594 23010179 Microdeletion UBE3A Prader-willi syndrome
32 90759 15 23133488 23235221 Copy number UBE3A Prader-willi syndrome
33 91319 15 29000000 31400000 Microdeletion CHRNA7 Prader-willi syndrome
34 91774 15 33471941 35072476 Deletion ATPBD4 Prader-willi syndrome
35 91775 15 33471941 35072476 Deletion CSNK1A1P Prader-willi syndrome
36 91776 15 33471941 35072476 Deletion MEIS2 Prader-willi syndrome
37 112051 17 37800000 41900000 Loss Prader-willi syndrome
38 138424 X 152940457 153016382 Deletion MECP2 Prader-willi syndrome
39 160279 22 11800000 24300000 Microdeletion or mic roduplication Prader-willi syndrome
40 161857 22 20500000 21800000 Loss Prader-willi syndrome
41 198062 5 19000000 33600000 Deletion Prader-willi syndrome
42 203653 6 1 2300000 Gain Prader-willi syndrome
43 239337 8 38500000 39500000 Loss Prader-willi syndrome
44 257160 X 1 4300000 Loss Prader-willi syndrome
45 260244 X 146900000 154913754 Loss Prader-willi syndrome

Expression for Prader-Willi Syndrome

Search GEO for disease gene expression data for Prader-Willi Syndrome.

Pathways for Prader-Willi Syndrome

Pathways related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.45 IGF1 LEP NDN
3 10.19 GABRA5 GABRB3

GO Terms for Prader-Willi Syndrome

Cellular components related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor complex GO:1902711 8.62 GABRA5 GABRB3

Biological processes related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cochlea development GO:0090102 9.46 GABRA5 GABRB3
2 gamma-aminobutyric acid signaling pathway GO:0007214 9.43 GABRA5 GABRB3
3 regulation of neuron apoptotic process GO:0043523 9.4 GABRA5 GABRB3
4 innervation GO:0060384 9.37 GABRA5 GABRB3
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.33 IGF1 LEP UBE3A
6 adult feeding behavior GO:0008343 9.32 GHRL LEP
7 inner ear receptor cell development GO:0060119 9.26 GABRA5 GABRB3
8 neuron development GO:0048666 9.13 GABRA5 GABRB3 NDN
9 bone mineralization involved in bone maturation GO:0035630 8.62 IGF1 LEP

Molecular functions related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 8.96 GABRA5 GABRB3
2 hormone activity GO:0005179 8.8 GHRL IGF1 LEP

Sources for Prader-Willi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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