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PWS
MCID: PRD006
MIFTS: 59

Prader-Willi Syndrome (PWS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Prader-Willi Syndrome

About this section

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 56 12 74 24 52 25 58 36 29 13 54 6 42 43 15 39
Prader-Labhart-Willi Syndrome 56 24 52 25 58
Pws 56 24 52 25
Willi-Prader Syndrome 52 25
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 58
Prader-Willi Syndrome Due to Imprinting Mutation 58
Prader-Willi Syndrome Due to Translocation 58
Prader Willi Syndrome 12
Upd(15)mat 58

Characteristics:

Orphanet epidemiological data:

58
prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;
prader-willi syndrome due to maternal uniparental disomy of chromosome 15
Age of onset: Adolescent,Adult;

OMIM:

56
Miscellaneous:
imprinted disorder
unusual skill with jigsaw puzzle
most cases due to interstitial deletions, the remainder of cases are secondary to maternal disomy
rare cases secondary to chromosome translocation

Inheritance:
autosomal dominant (loss of paternal allele)


HPO:

31
prader-willi syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11983
OMIM 56 176270
KEGG 36 H00478
ICD9CM 34 759.81
MeSH 43 D011218
NCIt 49 C75463
SNOMED-CT 67 89392001
ICD10 32 Q87.11
MESH via Orphanet 44 D011218
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0032897
MedGen 41 C0032897
UMLS 71 C0032897
Sources

Summaries for Prader-Willi Syndrome

About this section
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). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).

MalaCards based summary : Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to schaaf-yang syndrome and prader-willi syndrome due to paternal deletion of 15q11q13 type 2. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member). The drugs Acetaminophen and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotypes are delayed speech and language development and short stature

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.

NIH Rare Diseases : 52 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 : 56 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)

MedlinePlus : 42 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

KEGG : 36 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.

Wikipedia : 74 Prader-Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on... more...

GeneReviews: NBK1330
Sources

Related Diseases for Prader-Willi Syndrome

About this section

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
Sim1-Related Prader-Willi-Like Syndrome Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion

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

(show top 50) (show all 452)
# Related Disease Score Top Affiliating Genes
1 schaaf-yang syndrome 35.1 SNRPN NPAP1 NDN MAGEL2
2 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 35.1 SNRPN SNORD116@ OCA2 NDN MAGEL2
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 35.1 SNRPN SNORD116@ OCA2 NDN MAGEL2
4 angelman syndrome 34.9 UBE3A SNURF SNRPN SNORD116@ SNORD115-1 SNHG14
5 autism 32.5 UBE3A SNURF SNRPN SNHG14 NDN MKRN3
6 autism spectrum disorder 32.5 UBE3A SNURF SNRPN SNHG14 NDN MAGEL2
7 pervasive developmental disorder 31.8 UBE3A SNRPN MAGEL2 GABRB3
8 albinism, oculocutaneous, type ii 31.5 OCA2 HERC2
9 beckwith-wiedemann syndrome 31.5 UBE3A SNRPN MKRN3 IPW H19
10 temple syndrome 30.6 SNRPN MKRN3
11 prader-willi syndrome due to paternal 15q11q13 deletion 12.6
12 hypotonia 12.1
13 infantile hypotonia 12.0
14 parkes weber syndrome 11.6
15 prader-willi habitus, osteopenia, and camptodactyly 11.6
16 childhood apraxia of speech 11.6
17 floppy infant syndrome 11.6
18 partial deletion of the long arm of chromosome 15 11.6
19 sturge-weber syndrome 11.5
20 hypogonadism 11.2
21 maternal uniparental disomy 11.2
22 leptin deficiency or dysfunction 11.0
23 chromosomal disease 11.0 UBE3A SNRPN SNORD116@ NPAP1 NDN MKRN3
24 sleep apnea 11.0
25 alacrima, achalasia, and mental retardation syndrome 11.0
26 scoliosis 11.0
27 body mass index quantitative trait locus 11 10.9
28 growth hormone deficiency 10.9
29 cryptorchidism, unilateral or bilateral 10.8
30 body mass index quantitative trait locus 1 10.8
31 chromosomal triplication 10.8
32 learning disability 10.8
33 uniparental disomy of chromosome 15 10.8
34 body mass index quantitative trait locus 9 10.7
35 body mass index quantitative trait locus 8 10.7
36 body mass index quantitative trait locus 4 10.7
37 body mass index quantitative trait locus 10 10.7
38 body mass index quantitative trait locus 7 10.7
39 body mass index quantitative trait locus 12 10.7
40 body mass index quantitative trait locus 14 10.7
41 body mass index quantitative trait locus 18 10.7
42 body mass index quantitative trait locus 19 10.7
43 body mass index quantitative trait locus 20 10.7
44 hypothyroidism 10.7
45 insulin-like growth factor i 10.7
46 syndromic obesity 10.7
47 genetic obesity 10.7
48 down syndrome 10.7
49 hypogonadotropic hypogonadism 10.7
50 respiratory failure 10.7

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



Diseases related to Prader-Willi Syndrome
Sources

Symptoms & Phenotypes for Prader-Willi Syndrome

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Human phenotypes related to Prader-Willi Syndrome:

58 31 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Frequent (79-30%) HP:0000750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000028
4 specific learning disability 58 31 hallmark (90%) Frequent (79-30%) HP:0001328
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
6 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
7 short foot 58 31 hallmark (90%) Frequent (79-30%) HP:0001773
8 poor suck 58 31 hallmark (90%) Frequent (79-30%) HP:0002033
9 central hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011398
10 growth hormone deficiency 58 31 hallmark (90%) Frequent (79-30%) HP:0000824
11 polyphagia 58 31 hallmark (90%) Frequent (79-30%) HP:0002591
12 global developmental delay 31 hallmark (90%) HP:0001263
13 failure to thrive in infancy 31 hallmark (90%) HP:0001531
14 short palm 31 hallmark (90%) HP:0004279
15 narrow palm 31 hallmark (90%) HP:0004283
16 generalized hypotonia 31 hallmark (90%) HP:0001290
17 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
18 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
20 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
21 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
22 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
23 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
24 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
25 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
26 osteopenia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000938
27 osteoporosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0000939
28 primary amenorrhea 58 31 very rare (1%) Frequent (79-30%) HP:0000786
29 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
30 hypopigmentation of hair 58 31 very rare (1%) Frequent (79-30%) HP:0005599
31 downturned corners of mouth 58 31 frequent (33%) Occasional (29-5%) HP:0002714
32 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
33 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
34 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
35 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
36 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
37 narrow nasal bridge 58 31 frequent (33%) Occasional (29-5%) HP:0000446
38 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
39 scrotal hypoplasia 58 31 very rare (1%) Frequent (79-30%) HP:0000046
40 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
41 intellectual disability, borderline 58 31 frequent (33%) Frequent (79-30%) HP:0006889
42 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
43 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
44 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
45 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
46 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
47 almond-shaped palpebral fissure 58 31 frequent (33%) Occasional (29-5%) HP:0007874
48 erysipelas 58 31 frequent (33%) Frequent (79-30%) HP:0001055
49 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
50 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000060

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
poor fine motor coordination
poor gross motor coordination
sleep disturbances
more
Head And Neck Eyes:
strabismus
myopia
hyperopia
upslanting palpebral fissures
almond-shaped eyes

Skeletal:
osteopenia
osteoporosis

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

Metabolic Features:
temperature instability

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

Skin Nails Hair Skin:
fair skin
sun sensitivity

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems
childhood polyphagia (excessive appetite and obsession with eating)
stubbornness
rage
excessive skin picking of sores

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

Prenatal Manifestations Delivery:
breech position

Skeletal Spine:
scoliosis
kyphosis

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Head:
dolichocephaly

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

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

Respiratory:
hypoventilation
hypoxia
sleep apnea (obstructive, central, or mixed)

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
Voice:
hypernasal speech
weak or squeaky cry in infancy

Skin Nails Hair:
hypopigmentation

Head And Neck Teeth:
early dental caries

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

Prenatal Manifestations Movement:
decreased fetal activity

Laboratory Abnormalities:
microdeletion of 15q11 in 70% of patients confirmed by fluorescent in situ hybridization

Clinical features from OMIM:

176270
Sources

Drugs & Therapeutics for Prader-Willi Syndrome

About this section

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Ibuprofen Approved Phase 4 15687-27-1 3672
3
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
4
Liraglutide Approved Phase 4 204656-20-2 44147092
5 Analgesics, Non-Narcotic Phase 4
6 Cyclooxygenase Inhibitors Phase 4
7 Analgesics Phase 4
8 Antipyretics Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Antirheumatic Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Insulin, Globin Zinc Phase 4
13 Mitogens Phase 4
14 insulin Phase 4
15 Adrenergic alpha-Agonists Phase 4
16 Antihypertensive Agents Phase 4
17 Adrenergic Agents Phase 4
18 Adrenergic Agonists Phase 4
19 Neurotransmitter Agents Phase 4
20 Hormones Phase 4
21 Hormone Antagonists Phase 4
22 Hypoglycemic Agents Phase 4
23 Incretins Phase 4
24
Rimonabant Approved, Investigational Phase 3 158681-13-1, 168273-06-1 104850
25
Oxytocin Approved, Vet_approved Phase 3 50-56-6 53477758 439302
26
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
27
Diazoxide Approved Phase 3 364-98-7 3019
28
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
29
Topiramate Approved Phase 3 97240-79-4 5284627
30
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
31
Choline Approved, Nutraceutical Phase 3 62-49-7 305
32
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
33 Anti-Obesity Agents Phase 3
34 Trace Elements Phase 3
35 Vitamins Phase 3
36 Nutrients Phase 3
37 Ubiquinone Phase 3
38 Micronutrients Phase 3
39 Anticonvulsants Phase 3
40 CKD732 Phase 3
41 Angiogenesis Inhibitors Phase 3
42 Gastrointestinal Agents Phase 3
43 Antineoplastic Agents, Hormonal Phase 3
44
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
45
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
46 Antimetabolites Phase 1, Phase 2
47 Hypolipidemic Agents Phase 1, Phase 2
48 Vasodilator Agents Phase 1, Phase 2
49 Lipid Regulating Agents Phase 1, Phase 2
50 Adrenergic beta-1 Receptor Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 102)
# 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 The Effects of Acetaminophen and Ibuprofen With and Without Magnesium in the Treatment of Primary Migraine in Childhood Completed NCT01756209 Phase 4 Magnesium 400Mg;Ibuprofen 10 mg/kg;acetaminophen 15 mg/kg
3 Comparison of Therapeutic Oxygen Versus Medical Air for the Treatment of Central Sleep Apnea in Infants and Children With Prader Willi Syndrome: A Proof of Concept Study Recruiting NCT03031626 Phase 4
4 Treatment With Growth Hormone in Adults With PWS, Effect on Muscular Tone Evaluated by Functional MRI, Relationship With Strength and Body Composition Active, not recruiting NCT03616509 Phase 4 Growth hormone;Placebo
5 Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome Not yet recruiting NCT04066088 Phase 4 Guanfacine extended release (GXR)
6 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
7 A Single Arm, Multicenter Phase III Clinical Trial to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome Unknown status NCT03554031 Phase 3 Recombinant Human Growth Hormone (rhGH) Injection
8 Effect of Rimonabant, a Cannabinoid Receptor 1 Antagonist on Weight Gain and Body Composition in Adults With Prader Willi Syndrome. Unknown status NCT00603109 Phase 3 rimonabant;placebo
9 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
10 A Phase III, Multi-center, Randomized, Comparative, Parallel, Open Study to Assess the Efficacy and Safety After Treatment of Eutropin® Inj. Compared to Genotropin® in Infants/Toddlers With Prader-Willi Syndrome Completed NCT02204163 Phase 3 Eutropin;Genotropin
11 Oxytocin Treatment in Neonates and Infants Aged From 0 to 3 Months With Prader-Willi Syndrome : a Study of Safety and Efficacy on Oral and Social Skills and Feeding Behavior of Intranasal Administration of Oxytocin vs Placebo Recruiting NCT04283578 Phase 3 OT;Placebo comparator
12 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
13 A Randomized, Double-Blind, Placebo-Controlled Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Active, not recruiting NCT03440814 Phase 3 DCCR;Placebo for DCCR
14 An Open-Label, Long-Term Safety Evaluation of Diazoxide Choline Controlled-Release Tablet in Patients With Prader-Willi Syndrome Active, not recruiting NCT03714373 Phase 3 DCCR
15 Phase 3, Randomized, Double-Blind, Placebo-Controlled, 8-week Clinical Study to Assess the Efficacy, Safety, and Tolerability, of Intranasal Carbetocin (LV-101) in Prader-Willi Syndrome (PWS) With Long Term Follow-Up (CARE-PWS) Active, not recruiting NCT03649477 Phase 3 intranasal carbetocin Dose 1;intranasal carbetocin Dose 2;placebo
16 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome. Active, not recruiting NCT02527200 Phase 3 liraglutide;placebo
17 An Open-Label Study of Diazoxide Choline Controlled-Release Tablet in Patients With Prader-Willi Syndrome Not yet recruiting NCT04086810 Phase 3 DCCR
18 Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target Not yet recruiting NCT03831425 Phase 3
19 Randomized, Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Subcutaneous Beloranib in Suspension) in Obese Subjects With Prader-Willi Syndrome to Evaluate Total Body Weight, Food-related Behavior, and Safety Over 6 Months Terminated NCT02179151 Phase 3 ZGN-440 for Injectable Suspension;ZGN-440 Placebo for Injectable Suspension
20 A Phase 2b/3 Study to Evaluate the Safety, Tolerability, and Effects of Livoletide (AZP-531), an Unacylated Ghrelin Analogue, on Food-related Behaviors in Patients With Prader-Willi Syndrome Terminated NCT03790865 Phase 2, Phase 3 Livoletide;Placebo
21 Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behaviour and Weight in Patients With Prader-Willi Syndrome Terminated NCT00175305 Phase 3 Sandostatin LAR
22 Randomized, Placebo Controlled Double-blind Study of the Efficacy of Topiramate on the Symptoms of Irritability - Impulsivity, Overeating and Self-harm in a Population of Patients Suffering From Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
23 A 5 Treatment Period Crossover 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
24 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
25 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
26 A Phase 2 Study to Evaluate Efficacy, Safety, and Pharmacokinetics of GLWL-01 in the Treatment of Patients With Prader-Willi Syndrome Completed NCT03274856 Phase 2 GLWL-01;Placebo
27 A Ph 2, Randomized, Double-Blind, Placebo-controlled Pilot Study to Assess the Effects of RM-493, a Melanocortin 4 Receptor (MC4R) Agonist, in Obese Subjects With Prader-Willi Syndrome (PWS) on Safety, Weight Reduction, and Food-Related Behaviors Completed NCT02311673 Phase 2 RM-493;Placebo
28 Intranasal Oxytocin for Treatment of Infants and Children With Prader-Willi Syndrome in Nutritional Phase 1a - Phase 2 Study Completed NCT03245762 Phase 1, Phase 2 Oxytocin;Placebo
29 Randomized, Double-Blind, Placebo Controlled, Parallel Dose Ranging Phase 2a Trial of ZGN-440 (Subcutaneous Beloranib in Suspension), A Novel Methionine Aminopeptidase 2 Inhibitor, in Over-weight and Obese Subjects With Prader-Willi Syndrome to Evaluate Weight Reduction, Food-related Behavior, Safety, and Pharmacokinetics Over 4 Weeks Followed by Optional 4-Week Open-Label Extension Completed NCT01818921 Phase 2 ZGN-440 sterile diluent;1.2 mg ZGN-440 for injectable suspension;1.8 mg ZGN-440 for injectable suspension
30 A Dose Titration Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome With a Double-Blind, Placebo-Controlled, Randomized Withdrawal Extension Completed NCT02034071 Phase 1, Phase 2 DCCR;Placebo
31 A Double-blind, Randomized, Placebo-controlled, Multiple-dose, Multi-centre Safety and Efficacy Study of Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS) Completed NCT03149445 Phase 2 Tesofensine/Metoprolol;Placebos
32 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
33 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
34 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies and Effect on Suck and Food Intake. Completed NCT01548521 Phase 1, Phase 2 Oxytocin
35 Evaluation of the Effect of the Oxytocin Administered in Nasal Pulverizing on the Social Skills, the Stress, the Anxiety and the Eating Habits at Grown-up Patients Presenting a Syndrome of Prader-Willi: Pilot Study Completed NCT01038570 Phase 2 Syntocinon®/- Spray;Physiological serum (Sodium chloride)
36 A Multicenter, Open-Label 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
37 Cannabidivarin (CBDV) vs. Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS) Recruiting NCT03848481 Phase 2 CBDV Compound;Placebo
38 A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution for the Treatment of Subjects With Prader-Willi Syndrome Recruiting NCT02844933 Phase 2 Cannabidiol;Placebo
39 Phase 2 Study: Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
40 An Open-Label Randomized Controlled Trial (RCT) of 6 Weeks of Human Growth Hormone (HGH) Prior to Ovulation Induction for In Vitro Fertilization (IVF) Enrolling by invitation NCT02179255 Phase 1, Phase 2 Human Growth Hormone;Follicle Stimulating Hormone
41 Transcutaneous Vagus Nerve Stimulation in Children With Prader-Willi Syndrome Not yet recruiting NCT04396470 Phase 1, Phase 2
42 A Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate the Safety and Efficacy of Pitolisant in Patients With Prader-Willi Syndrome, Followed by an Open Label Extension Not yet recruiting NCT04257929 Phase 2 Pitolisant oral tablets;Placebo oral tablet
43 Phase 1 Study of Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome Unknown status NCT02297022 Phase 1
44 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1 Intranasal oxytocin
45 A Trial to Examine the Bioequivalence of Norditropin® Versus Genotropin® in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
46 PREDICTORS (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) Completed NCT02567357 Phase 1
47 Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome Unknown status NCT00808548
48 Contribution of a GLP-1 Agonist to Appetite Regulation, Metabolism and Body Composition in Subjects With Prader-Willi Syndrome. Unknown status NCT00551343 Exenatide
49 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
50 PREPL in Health and Disease Unknown status NCT02263781

Search NIH Clinical Center for Prader-Willi Syndrome

Cochrane evidence based reviews: prader-willi syndrome

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Genetic Tests for Prader-Willi Syndrome

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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
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Anatomical Context for Prader-Willi Syndrome

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MalaCards organs/tissues related to Prader-Willi Syndrome:

40
Skin, Brain, Testes, Eye, Bone, Pituitary, Hypothalamus
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Publications for Prader-Willi Syndrome

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Articles related to Prader-Willi Syndrome:

(show top 50) (show all 3150)
# Title Authors PMID Year
1
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. 56 61 54 24
18500341 2008
2
Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. 61 56 24 54
12915638 2003
3
High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. 54 61 24 56
12466337 2002
4
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. 56 24 54 61
8957518 1996
5
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. 24 56 61
24916642 2015
6
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. 61 56 24
22045295 2012
7
Clinical report—health supervision for children with Prader-Willi syndrome. 61 6 24
21187304 2011
8
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. 24 56 61
19498035 2009
9
Hyperghrelinemia precedes obesity in Prader-Willi syndrome. 61 56 24
18460565 2008
10
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. 61 24 56
18303077 2008
11
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. 24 56 61
17103438 2007
12
Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. 56 61 24
17003096 2006
13
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. 24 56 61
15649943 2005
14
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. 24 61 56
15578038 2005
15
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. 56 24 61
15565282 2005
16
Psychotic disorders in Prader-Willi syndrome. 61 24 56
15150773 2004
17
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. 24 61 56
12545427 2003
18
Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. 56 24 61
12519848 2003
19
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. 24 61 56
11809260 2002
20
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. 24 56 61
11694676 2001
21
Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. 56 24 61
11732491 2001
22
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 61 56 24
10417280 1999
23
Imprinting-mutation mechanisms in Prader-Willi syndrome. 56 24 61
9973278 1999
24
The neonatal presentation of Prader-Willi syndrome revisited. 24 56 61
9931534 1999
25
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 61 56 24
9634532 1998
26
Prader-Willi syndrome: consensus diagnostic criteria. 24 56 61
8424017 1993
27
Parental origin of chromosome 15 deletion in Prader-Willi syndrome. 56 24 61
6134086 1983
28
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. 61 56 24
7442771 1981
29
Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. 56 61 54
17264185 2007
30
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. 54 61 56
8874459 1996
31
Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. 56 54 61
8723064 1996
32
Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. 56 54 61
7512861 1994
33
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. 56 61 54
8111365 1993
34
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. 56 61 54
8388764 1993
35
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. 54 56 61
1303277 1992
36
Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. 56 61
28682308 2018
37
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. 61 56
27854358 2017
38
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. 61 56
23928912 2014
39
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. 61 56
22585395 2012
40
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. 61 56
20053671 2010
41
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. 61 56
19533781 2009
42
Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome. 61 24 54
18603572 2008
43
Mechanisms of imprinting of the Prader-Willi/Angelman region. 61 56
18627066 2008
44
Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. 56 61
18211968 2008
45
Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome. 24 54 61
17023209 2006
46
Ghrelin levels in young children with Prader-Willi syndrome. 61 54 24
16887433 2006
47
The neonatal phenotype of Prader-Willi syndrome. 56 61
16642508 2006
48
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. 61 56
16357227 2006
49
Hypocretin deficiency in Prader-Willi syndrome. 54 24 61
15613151 2005
50
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. 61 56
15459179 2004
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Variations for Prader-Willi Syndrome

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ClinVar genetic disease variations for Prader-Willi Syndrome:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 52 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)copy number loss Pathogenic 625711 15:20848750-32925141
2 subset of 29 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)copy number loss Pathogenic 625713 15:22770994-29050198
3 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)copy number loss Pathogenic 625716 15:23615768-28561671
4 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)copy number loss Pathogenic 625717 15:23683783-28530182
5 subset of 23 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)copy number loss Pathogenic 625718 15:23810184-28525505
6 subset of 23 genes: MAGEL2 , SNURF , UBE3A deletion Pathogenic 375417 15:23707435-28520316
7 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)SNV Pathogenic/Likely pathogenic 208684 rs797044883 15:23890978-23890978 15:23645831-23645831
8 HERC2 NM_004667.5(HERC2):c.13612G>A (p.Val4538Met)SNV Uncertain significance 392903 rs149338352 15:28360685-28360685 15:28115539-28115539
9 MAGEL2 NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val)SNV Uncertain significance 425062 rs1064797195 15:23891175-23891175 15:23646028-23646028
10 NDN NM_002487.3(NDN):c.533G>A (p.Arg178Lys)SNV Uncertain significance 548574 rs1555376130 15:23931832-23931832 15:23686685-23686685
11 MAGEL2 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)SNV Benign/Likely benign 193399 rs138628273 15:23889873-23889873 15:23644726-23644726

Copy number variations for Prader-Willi Syndrome from CNVD:

7 (show all 45)
# CNVD ID Chromosome 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 rearrangement 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 microduplication 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
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Expression for Prader-Willi Syndrome

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

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GO Terms for Prader-Willi Syndrome

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Sources for Prader-Willi Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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