PWS
MCID: PRD006
MIFTS: 63

Prader-Willi Syndrome (PWS)

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

Aliases & Classifications for Prader-Willi Syndrome

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 57 12 76 24 53 25 59 37 29 13 55 6 43 44 15 40
Prader-Labhart-Willi Syndrome 57 24 53 25 59
Pws 57 24 53 25
Willi-Prader Syndrome 53 25 59
Prader Willi Syndrome 12
Praderwilli Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
prader-willi syndrome:
Inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is complete...

Classifications:



Summaries for Prader-Willi Syndrome

MedlinePlus : 43 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. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways/superpathways is Synaptic Neurotransmission Pathways: GABAergic Inhibition. The drugs Liraglutide and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are obesity and high palate

Disease Ontology : 12 A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.

Genetics Home Reference : 25 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 : 53 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.

OMIM : 57 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)

Wikipedia : 76 Prader�??Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In... more...

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 166)
# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 34.1 SNRPN NDN MAGEL2
2 prader-willi syndrome due to imprinting mutation 34.0 SNRPN NDN MAGEL2
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 34.0 SNRPN NDN MAGEL2
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 34.0 SNRPN NDN MAGEL2
5 angelman syndrome 33.1 UBE3A SNURF SNRPN SNORD115-1 SNHG14 PWRN1
6 autism 31.3 UBE3A SNRPN NDN MAGEL2 GABRB3 GABRA5
7 autism spectrum disorder 30.9 UBE3A MAGEL2 GABRB3
8 schaaf-yang syndrome 12.5
9 prader-willi syndrome due to translocation 12.4
10 prader-willi syndrome due to paternal 15q11q13 deletion 12.4
11 hypotonia 11.8
12 parkes weber syndrome 11.6
13 prader-willi habitus, osteopenia, and camptodactyly 11.4
14 wilson-turner x-linked mental retardation syndrome 11.4
15 childhood apraxia of speech 11.4
16 infantile hypotonia 11.4
17 floppy infant syndrome 11.4
18 prader-willi-like syndrome due to a point mutation 11.1
19 scoliosis 10.7
20 morbid obesity 10.6
21 body mass index quantitative trait locus 1 10.6
22 diabetes mellitus 10.5
23 hypogonadism 10.5
24 sleep apnea 10.5
25 growth hormone deficiency 10.5
26 down syndrome 10.5
27 williams-beuren syndrome 10.5
28 epilepsy 10.5
29 fragile x syndrome 10.4
30 precocious puberty 10.4
31 hypersomnia 10.4
32 mastocytosis, cutaneous 10.4
33 leptin deficiency or dysfunction 10.4
34 urticaria 10.4
35 empty sella syndrome 10.4
36 chromosome 15q13.3 deletion syndrome 10.3 UBE3A NPAP1
37 alacrima, achalasia, and mental retardation syndrome 10.3
38 hypothyroidism 10.3
39 mosaic trisomy 15 10.3
40 angelman syndrome due to imprinting defect in 15q11-q13 10.2 UBE3A SNRPN
41 chromosomal disease 10.2 UBE3A SNURF SNRPN NDN MKRN3 MAGEL2
42 arteries, anomalies of 10.2
43 sotos syndrome 1 10.2
44 diabetes mellitus, noninsulin-dependent 10.2
45 obesity-hypoventilation syndrome 10.2
46 insulin-like growth factor i 10.2
47 body mass index quantitative trait locus 11 10.2
48 aging 10.2
49 body mass index quantitative trait locus 10 10.2
50 body mass index quantitative trait locus 14 10.2

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:

57
Skeletal Hands:
clinodactyly
syndactyly
small hands (<25th percentile for height age)
narrow hands with straight ulnar border

Neurologic Central Nervous System:
seizures
global developmental delay
poor fine motor coordination
poor gross motor coordination
sleep disturbances
more
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 Gastrointestinal:
feeding problems in infancy requiring gavage feeds
decreased vomiting

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

Skeletal:
osteopenia
osteoporosis

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:

59 32 (show top 50) (show all 95)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
9 global developmental delay 59 32 hallmark (90%) Frequent (79-30%) HP:0001263
10 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 59 32 hallmark (90%) Frequent (79-30%) HP:0004322
13 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 short palm 59 32 hallmark (90%) Frequent (79-30%) HP:0004279
16 cryptorchidism 59 32 very rare (1%) Frequent (79-30%) HP:0000028
17 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
18 specific learning disability 59 32 hallmark (90%) Frequent (79-30%) HP:0001328
19 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Frequent (79-30%) HP:0000044
20 glomerulopathy 59 32 frequent (33%) Frequent (79-30%) HP:0100820
21 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
22 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
23 hypoplasia of the ear cartilage 59 32 frequent (33%) Frequent (79-30%) HP:0100720
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
26 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
27 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
28 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
29 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
30 abnormal hair pattern 59 32 frequent (33%) Frequent (79-30%) HP:0010720
31 genu valgum 32 HP:0002857
32 clinodactyly 32 HP:0030084
33 precocious puberty 32 very rare (1%) HP:0000826
34 osteopenia 32 occasional (7.5%) HP:0000938
35 kyphosis 32 frequent (33%) HP:0002808
36 sleep apnea 32 frequent (33%) HP:0010535
37 hip dysplasia 32 very rare (1%) HP:0001385
38 recurrent respiratory infections 32 frequent (33%) HP:0002205
39 type ii diabetes mellitus 32 very rare (1%) HP:0005978
40 carious teeth 32 occasional (7.5%) HP:0000670
41 delayed speech and language development 32 hallmark (90%) HP:0000750
42 neonatal hypotonia 32 HP:0001319
43 feeding difficulties in infancy 32 HP:0008872
44 delayed puberty 32 frequent (33%) HP:0000823
45 osteoporosis 32 occasional (7.5%) HP:0000939
46 decreased muscle mass 32 frequent (33%) HP:0003199
47 dolichocephaly 32 HP:0000268
48 short foot 32 hallmark (90%) HP:0001773
49 autism 32 very rare (1%) HP:0000717
50 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018

Drugs & Therapeutics for Prader-Willi Syndrome

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
3 Hormones Phase 4,Phase 3,Not Applicable
4 Hormone Antagonists Phase 4,Phase 3,Not Applicable
5 Hypoglycemic Agents Phase 4,Phase 3,Not Applicable
6 Incretins Phase 4,Phase 3,Not Applicable
7 insulin Phase 4,Not Applicable
8 Insulin, Globin Zinc Phase 4,Not Applicable
9 Mitogens Phase 4
10
Rimonabant Approved, Investigational Phase 3 158681-13-1, 168273-06-1 104850
11
Diazoxide Approved Phase 3,Phase 2,Phase 1 364-98-7 3019
12
Oxytocin Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-56-6 439302 53477758
13
Octreotide Approved, Investigational Phase 3,Not Applicable 83150-76-9 383414 6400441
14
Topiramate Approved Phase 3,Not Applicable 97240-79-4 5284627
15
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
16
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
17
Choline Approved, Nutraceutical Phase 3,Phase 2,Phase 1 62-49-7 305
18 Cannabinoid Receptor Antagonists Phase 3
19 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
20 Gastrointestinal Agents Phase 3,Phase 2,Phase 1,Not Applicable
21 Vasodilator Agents Phase 3,Phase 2,Phase 1
22 Lipid Regulating Agents Phase 3,Phase 2,Phase 1
23 Antihypertensive Agents Phase 3,Phase 2,Phase 1
24 Hypolipidemic Agents Phase 3,Phase 2,Phase 1
25 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
26 Nootropic Agents Phase 3,Phase 2,Phase 1
27 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
28 Oxytocics Phase 3,Phase 2,Phase 1,Not Applicable
29 Anti-Obesity Agents Phase 3,Not Applicable
30 Anticonvulsants Phase 3,Not Applicable
31 Protective Agents Phase 3,Not Applicable
32 Neuroprotective Agents Phase 3,Not Applicable
33
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
34
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
35 Autonomic Agents Phase 2,Not Applicable
36 Adrenergic Agents Phase 2,Not Applicable
37 Peripheral Nervous System Agents Phase 2,Not Applicable
38 Pharmaceutical Solutions Phase 2
39 Adrenergic beta-1 Receptor Antagonists Phase 2
40 Anti-Arrhythmia Agents Phase 2
41 Adrenergic Antagonists Phase 2
42 Adrenergic beta-Antagonists Phase 2
43 Sympatholytics Phase 2
44
Exenatide Approved, Investigational Not Applicable 141758-74-9 15991534
45
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
46
Hydrocortisone Approved, Vet_approved ,Not Applicable 50-23-7 5754
47
Hydrocortisone acetate Approved, Vet_approved ,Not Applicable 50-03-3
48
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
49
Racepinephrine Approved Not Applicable 329-65-7 838
50
Metyrapone Approved, Investigational Not Applicable 54-36-4 4174

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
2 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
3 GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition Active, not recruiting NCT03616509 Phase 4 Growth hormone;Placebo
4 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
5 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
6 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
7 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Completed NCT02204163 Phase 3 Eutropin;Genotropin
8 Open-Label Extension Study of Diazoxide Choline in Patients With Prader-Willi Syndrome Recruiting NCT03714373 Phase 3 DCCR
9 A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome Recruiting NCT03440814 Phase 3 DCCR;Placebo for DCCR
10 Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome Recruiting NCT03649477 Phase 3 intranasal carbetocin Dose 1;intranasal carbetocin Dose 2;placebo
11 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Recruiting NCT02804373 Phase 2, Phase 3 Oxytocin (OXT) continuous;Placebo;Placebo continuous;Oxytocin
12 A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome Recruiting NCT03554031 Phase 3 Recombinant Human Growth Hormone (rhGH) Injection
13 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome Recruiting NCT02527200 Phase 3 liraglutide;placebo
14 Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome Not yet recruiting NCT03790865 Phase 2, Phase 3 Livoletide;Placebo
15 Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome Terminated NCT02179151 Phase 3 ZGN-440 for Injectable Suspension;ZGN-440 Placebo for Injectable Suspension
16 Prader-Willi Syndrome and Appetite Terminated NCT00175305 Phase 3 Sandostatin LAR
17 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
18 A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR) Unknown status NCT02893618 Phase 2 Diazoxide choline controlled-release tablet
19 Intranasal Oxytocin for Infants With Prader-Willi Syndrome Completed NCT03245762 Phase 1, Phase 2 Oxytocin;Placebo
20 Ph 2 Trial to Evaluate Safety & Efficacy of RM-493 in Obese Patients With Prader-Willi Syndrome Completed NCT02311673 Phase 2 RM-493;Placebo
21 Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Completed NCT02034071 Phase 1, Phase 2 DCCR;Placebo
22 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
23 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
24 An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome Completed NCT01818921 Phase 2 ZGN-440 sterile diluent;1.2 mg ZGN-440 for injectable suspension;1.8 mg ZGN-440 for injectable suspension
25 Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo Completed NCT01038570 Phase 2 Syntocinon®/- Spray;Physiological serum (Sodium chloride)
26 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
27 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies Completed NCT01548521 Phase 1, Phase 2 Oxytocin
28 A Study of GLWL-01 in Patients With Prader-Willi Syndrome Recruiting NCT03274856 Phase 2 GLWL-01;Placebo
29 A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Patients With Prader-Willi Syndrome Recruiting NCT03458416 Phase 2 Cannabidiol Oral Solution
30 Cannabidiol Oral Solution for the Treatment of Subjects With Prader-Willi Syndrome Recruiting NCT02844933 Phase 2 Cannabidiol;Placebo
31 Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
32 Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS) Recruiting NCT03149445 Phase 2 Tesofensine/Metoprolol;Placebos
33 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Active, not recruiting NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
34 Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome Unknown status NCT02297022 Phase 1
35 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Unknown status NCT02567357 Phase 1
36 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1 Intranasal oxytocin
37 Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
38 Experience With Growth Hormone (GH) in Children Under 2 Years With Prader-Willi Syndrome (PWS) in the Pediatric Endocrine Department of the Hospital of Sabadell Unknown status NCT02205450 Recombinant Somatropin
39 Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome Unknown status NCT00551343 Not Applicable Exenatide
40 Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study Unknown status NCT02058342 Not Applicable
41 Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome Unknown status NCT00808548
42 Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome Unknown status NCT01520467 Not Applicable Anastrozole;Placebo
43 Post Exercise Irisin Levels in PWS Patients Unknown status NCT02728544 Not Applicable
44 PWS European Blood Bank for Infants and Controls From 0 to 48 Months Unknown status NCT02529085 Not Applicable
45 PREPL in Health and Disease Unknown status NCT02263781 Not Applicable
46 Hypoglycemia in Prader-Willi Syndrome Completed NCT01897363
47 Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity Completed NCT00375089
48 Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome Completed NCT01622751
49 Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome Completed NCT01479322
50 Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome Completed NCT01444898 Not Applicable Exenatide

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 29 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:

41
Skin, Brain, Bone, Testes, Pituitary, Liver, Heart

Publications for Prader-Willi Syndrome

Articles related to Prader-Willi Syndrome:

(show top 50) (show all 1263)
# Title Authors Year
1
Changes in body composition, blood lipid profile, and growth factor hormone in a patient with Prader-willi syndrome during 24 weeks of complex exercise: a single case study. ( 29673244 )
2018
2
Orthognathic Correction in Prader-Willi Syndrome: Occlusion and Sleep Restored. ( 29750570 )
2018
3
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. ( 29730598 )
2018
4
Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. ( 29437285 )
2018
5
Bone mineral density in young adults with Prader-Willi syndrome: a randomized, placebo-controlled, cross-over GH trial. ( 29418016 )
2018
6
The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS). ( 29309382 )
2018
7
Test-retest reliability of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition for youth with Prader-Willi syndrome. ( 29920333 )
2018
8
Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome. ( 29371863 )
2018
9
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. ( 29681103 )
2018
10
Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome. ( 29925684 )
2018
11
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. ( 29352661 )
2018
12
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. ( 29496979 )
2018
13
Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. ( 29433608 )
2018
14
The associations between diet and physical activity with body composition and walking a timed distance in adults with Prader-Willi syndrome. ( 29942245 )
2018
15
Eye Tracking as a Marker of Hyperphagia in Prader-Willi Syndrome. ( 29412007 )
2018
16
Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome. ( 29800646 )
2018
17
Impaired melanocortin pathway function in Prader-Willi Syndrome gene-Magel2 deficient mice. ( 29878108 )
2018
18
No central adrenal insufficiency found in patients with Prader-Willi syndrome with an overnight metyrapone test. ( 29959886 )
2018
19
Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. ( 29324255 )
2018
20
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
21
Functional independence of Taiwanese children with Prader-Willi syndrome. ( 29696774 )
2018
22
The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial. ( 29703235 )
2018
23
The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome. ( 29975666 )
2018
24
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. ( 29776967 )
2018
25
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. ( 29401073 )
2018
26
Analysis of Circulating Mediators of Bone Remodeling in Prader-Willi Syndrome. ( 29353451 )
2018
27
Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. ( 29376887 )
2018
28
Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome. ( 29666169 )
2018
29
Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome? ( 29685165 )
2018
30
Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome. ( 29696788 )
2018
31
AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial. ( 29320575 )
2018
32
Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. ( 29318372 )
2018
33
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
34
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. ( 29590610 )
2018
35
Prader-Willi syndrome: a nest for premature coronary artery disease? ( 29437709 )
2018
36
Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here? ( 29376891 )
2018
37
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. ( 29271568 )
2018
38
Orchidopexy in children with Prader-Willi syndrome: Results of a long-term follow-up study. ( 29102298 )
2018
39
A model to characterize psychopathological features in adults with Prader-Willi syndrome. ( 29150898 )
2018
40
A review of clinical trials of oxytocin in Prader-Willi syndrome. ( 29206687 )
2018
41
GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome. ( 29217318 )
2018
42
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons. ( 29228278 )
2018
43
Growth hormone receptor (GHR) gene polymorphism and scoliosis in Prader-Willi syndrome. ( 29273483 )
2018
44
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
45
Analysis of saliva samples in patients with Prader-Willi syndrome. ( 29460526 )
2018
46
Rectal Picking Masquerading as Inflammatory Bowel Disease in Prader-Willi Syndrome. ( 29470292 )
2018
47
Ventilatory Responses During Submaximal Exercise in Children With Prader-Willi Syndrome. ( 29485929 )
2018
48
Chronic diazoxide treatment decreases fat mass and improves endurance capacity in an obese mouse model of Prader-Willi syndrome. ( 29506955 )
2018
49
Treatment with growth hormone in the prader-willi syndrome. ( 29510967 )
2018
50
Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults. ( 29527494 )
2018

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
2 NDN NM_002487.2(NDN): c.533G> A (p.Arg178Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 23931832: 23931832
3 NDN NM_002487.2(NDN): c.533G> A (p.Arg178Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 23686685: 23686685

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 9.85 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 9.37 GABRA5 GABRB3
2 gamma-aminobutyric acid signaling pathway GO:0007214 9.32 GABRA5 GABRB3
3 regulation of neuron apoptotic process GO:0043523 9.26 GABRA5 GABRB3
4 innervation GO:0060384 9.16 GABRA5 GABRB3
5 inner ear receptor cell development GO:0060119 8.96 GABRA5 GABRB3
6 neuron development GO:0048666 8.8 GABRA5 GABRB3 NDN

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

# Name GO ID Score Top Affiliating Genes
1 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.16 GABRA5 GABRB3
2 GABA-A receptor activity GO:0004890 8.96 GABRA5 GABRB3
3 GABA-gated chloride ion channel activity GO:0022851 8.62 GABRA5 GABRB3

Sources for Prader-Willi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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