PWS
MCID: PRD006
MIFTS: 62

Prader-Willi Syndrome (PWS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Prader-Willi Syndrome

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 57 11 24 19 42 58 75 28 12 53 5 41 43 14 38 33
Prader-Labhart-Willi Syndrome 57 24 19 42 58
Pws 57 24 19 42
Willi-Prader Syndrome 19 42 33
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 58 28
Prader-Willi Syndrome Due to Imprinting Mutation 58 28
Prader-Willi Syndrome Due to Translocation 58 28
Prader Willi Syndrome 11
Upd(15)mat 58

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Europe, Europe, Belgium, Belgium, United Kingdom, United Kingdom, Japan, Japan, Australia, Australia, United States, United States, France) 1-9/1000000 (China) 58

Age Of Onset:

Prader-Willi Syndrome: Antenatal,Neonatal 58
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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


GeneReviews:

24
Penetrance Penetrance is complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:11983
OMIM® 57 176270
ICD9CM 34 759.81
MeSH 43 D011218
NCIt 49 C75463
SNOMED-CT 68 205794007
MESH via Orphanet 44 D011218
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C0032897
MedGen 40 C0032897
SNOMED-CT via HPO 69 102572006 103021001 111266001 more
ICD11 33 393773440
UMLS 71 C0032897

Summaries for Prader-Willi Syndrome

MedlinePlus Genetics: 42 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 extreme hunger, 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 angelman syndrome. An important gene associated with Prader-Willi Syndrome is MAGEL2 (MAGE Family Member L2), and among its related pathways/superpathways is Prader-Willi and Angelman syndrome. The drugs Liraglutide and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and brain, and related phenotypes are hypotonia and global developmental delay

MedlinePlus: 41 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

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) (Updated 08-Dec-2022)

GARD: 19 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. 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.

Orphanet: 58 A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.

Disease Ontology: 11 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.

Wikipedia: 75 Prader-Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on... 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
Sim1-Related Prader-Willi-Like Syndrome Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion
Cpe-Related Prader-Willi-Like Syndrome

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

(show top 50) (show all 565)
# Related Disease Score Top Affiliating Genes
1 schaaf-yang syndrome 33.9 UBE3A SNRPN PWRN1 NPAP1 NDN MKRN3
2 angelman syndrome 33.5 UBE3A SNURF SNRPN SNORD115-1 SNHG14 PWRN1
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 33.0 SNRPN OCA2 NDN MAGEL2
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 33.0 SNRPN OCA2 NDN MAGEL2
5 leptin deficiency or dysfunction 32.5 SNRPN NPAP1 MAGEL2 GHRL
6 cryptorchidism, unilateral or bilateral 32.1 SNRPN NPAP1 NDN MKRN3 MAGEL2
7 autism 32.0 UBE3A SNRPN NDN MAGEL2 GHRL GABRB3
8 central precocious puberty 31.4 NDN MKRN3 MAGEL2
9 chromosome 15q13.3 deletion syndrome 31.2 UBE3A NPAP1 NIPA2 MAGEL2
10 temple syndrome 31.2 SNRPN NPAP1 NDN MKRN3 MAGEL2 IPW
11 albinism, oculocutaneous, type ii 31.1 OCA2 HERC2
12 chromosomal disease 31.1 UBE3A SNRPN NPAP1 NIPA2 NDN MKRN3
13 beckwith-wiedemann syndrome 31.1 UBE3A SNRPN NDN MKRN3 MAGEL2 IPW
14 silver-russell syndrome 1 30.7 UBE3A SNRPN NDN MAGEL2 IPW H19
15 skin/hair/eye pigmentation, variation in, 1 30.6 OCA2 HERC2
16 hypotonia 11.6
17 prader-willi syndrome due to paternal 15q11q13 deletion 11.4
18 prader-willi habitus, osteopenia, and camptodactyly 11.3
19 childhood apraxia of speech 11.3
20 partial deletion of the long arm of chromosome 15 11.3
21 hypogonadism 11.2
22 maternal uniparental disomy 11.1
23 leptin receptor deficiency 11.0
24 capillary malformation-arteriovenous malformation 1 10.9
25 scoliosis 10.9
26 apnea, obstructive sleep 10.9
27 growth hormone deficiency 10.9
28 body mass index quantitative trait locus 11 10.9
29 autism spectrum disorder 10.9
30 sleep apnea 10.9
31 psychotic disorder 10.8
32 premature ovarian failure 7 10.8
33 dilution, pigmentary 10.8
34 hypothyroidism 10.8
35 body mass index quantitative trait locus 9 10.7
36 body mass index quantitative trait locus 8 10.7
37 body mass index quantitative trait locus 4 10.7
38 body mass index quantitative trait locus 10 10.7
39 body mass index quantitative trait locus 7 10.7
40 body mass index quantitative trait locus 12 10.7
41 body mass index quantitative trait locus 14 10.7
42 body mass index quantitative trait locus 18 10.7
43 body mass index quantitative trait locus 19 10.7
44 body mass index quantitative trait locus 20 10.7
45 down syndrome 10.7
46 syndromic obesity 10.7
47 learning disability 10.7
48 type 2 diabetes mellitus 10.7
49 body mass index quantitative trait locus 1 10.7
50 genetic obesity 10.7

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



Diseases related to Prader-Willi Syndrome

Symptoms & Phenotypes for Prader-Willi Syndrome

Human phenotypes related to Prader-Willi Syndrome:

58 30 (show top 50) (show all 200)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotonia 58 30 Hallmark (90%) Frequent (79-30%)
HP:0001252
2 global developmental delay 58 30 Hallmark (90%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0001263
3 delayed speech and language development 58 30 Hallmark (90%) Frequent (79-30%)
Occasional (29-5%)
HP:0000750
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0004322
5 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0008872
6 cryptorchidism 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000028
7 specific learning disability 58 30 Hallmark (90%) Frequent (79-30%)
Frequent (79-30%)
HP:0001328
8 obesity 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0001513
9 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
10 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
HP:0002119
11 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000789
12 short foot 58 30 Hallmark (90%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001773
13 weak cry 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001612
14 narrow palm 58 30 Hallmark (90%) Occasional (29-5%)
HP:0004283
15 poor suck 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0002033
16 polyphagia 58 30 Hallmark (90%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002591
17 failure to thrive in infancy 30 Hallmark (90%) HP:0001531
18 short palm 30 Hallmark (90%) HP:0004279
19 generalized hypotonia 30 Hallmark (90%) HP:0001290
20 hypogonadotropic hypogonadism 30 Hallmark (90%) HP:0000044
21 decreased response to growth hormone stimulation test 30 Hallmark (90%) HP:0000824
22 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001508
23 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
Frequent (79-30%)
HP:0002650
24 diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000819
25 osteopenia 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000938
26 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002205
27 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001999
28 neonatal hypotonia 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0001319
29 delayed puberty 58 30 Frequent (33%) Frequent (79-30%)
HP:0000823
30 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001256
31 strabismus 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Frequent (79-30%)
HP:0000486
32 autism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000717
33 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0007018
34 osteoporosis 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000939
35 primary amenorrhea 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0000786
36 hypopigmentation of hair 58 30 Very rare (1%) Frequent (79-30%)
Very rare (<4-1%)
Occasional (29-5%)
Very rare (<4-1%)
HP:0005599
37 downturned corners of mouth 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
HP:0002714
38 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
39 periodontitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000704
40 nasal speech 58 30 Frequent (33%) Occasional (29-5%)
HP:0001611
41 decreased fetal movement 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Occasional (29-5%)
HP:0001558
42 hyporeflexia 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0001265
43 psychosis 58 30 Very rare (1%) Occasional (29-5%)
Frequent (79-30%)
HP:0000709
44 small hand 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0200055
45 narrow nasal bridge 58 30 Frequent (33%) Occasional (29-5%)
Occasional (29-5%)
HP:0000446
46 decreased testicular size 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0008734
47 severe muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0006829
48 hypoplastic labia majora 58 30 Frequent (33%) Frequent (79-30%)
HP:0000059
49 intellectual disability, borderline 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0006889
50 hypopigmentation of the skin 58 30 Occasional (7.5%) Frequent (79-30%)
Very rare (<4-1%)
Occasional (29-5%)
Very rare (<4-1%)
HP:0001010

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
global developmental delay
poor fine motor coordination
poor gross motor coordination
sleep disturbances
seizures
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hyperinsulinemia
growth hormone deficiency
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
scrotal hypoplasia
hypogonadotropic hypogonadism
small penis

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

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

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:
osteopenia
osteoporosis

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

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

Head And Neck Head:
dolichocephaly

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

Genitourinary External Genitalia Female:
hypoplastic labia minora
hypoplastic clitoris

Metabolic Features:
temperature instability

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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Prader-Willi Syndrome

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
2 Insulin, Globin Zinc Phase 4
3
Insulin Phase 4
4 Mitogens Phase 4
5 Hormones Phase 4
6 Hormone Antagonists Phase 4
7 Hypoglycemic Agents Phase 4
8 Incretins Phase 4
9
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
10
Carbetocin Approved, Investigational Phase 3 37025-55-1 16681432
11
Oxytocin Approved, Vet_approved Phase 2, Phase 3 50-56-6 439302 53477758
12
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
13
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605 16129706
14
Topiramate Approved Phase 3 97240-79-4 5284627
15 Gastrointestinal Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Anticonvulsants Phase 3
18 Angiogenesis Inhibitors Phase 3
19 CKD732 Phase 3
20
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
21
Racemethionine Approved, Experimental, Investigational, Nutraceutical Phase 2 59-51-8, 63-68-3, 348-67-4 6137
22
Ubidecarenone Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
23 Antimetabolites Phase 1, Phase 2
24 Vasodilator Agents Phase 1, Phase 2
25 Hypolipidemic Agents Phase 1, Phase 2
26 Nootropic Agents Phase 1, Phase 2
27 Lipid Regulating Agents Phase 1, Phase 2
28 Vitamins Phase 2
29 Trace Elements Phase 2
30 Ubiquinone Phase 2
31 Micronutrients Phase 2
32 Adrenergic beta-Antagonists Phase 2
33 Adrenergic beta-1 Receptor Antagonists Phase 2
34 Adrenergic Antagonists Phase 2
35 Anti-Arrhythmia Agents Phase 2
36 Sympatholytics Phase 2
37
Anastrozole Approved, Investigational 120511-73-1 2187
38
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
39
Exenatide Approved, Investigational 141758-74-9 45588096
40 Tangerine Approved
41
Hydrocortisone succinate Approved 2203-97-6 3643
42
Hydrocortisone acetate Approved, Vet_approved 50-03-3
43
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
44
Metyrapone Approved, Investigational 54-36-4 4174
45
Tetracosactide Approved 16960-16-0 16133802 16129617
46
Arginine Approved, Investigational, Nutraceutical 74-79-3 6322
47 Liver Extracts
48 Estrogens
49 Estrogen Receptor Antagonists
50 Estrogen Antagonists

Interventional clinical trials:

(show top 50) (show all 110)
# 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 Treatment With Growth Hormone in Adults With PWS, Effect on Muscular Tone Evaluated by Functional MRI, Relationship With Strength and Body Composition Completed NCT03616509 Phase 4 Growth hormone;Placebo
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 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
5 Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome Withdrawn NCT04066088 Phase 4 Guanfacine extended release (GXR)
6 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
7 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
8 Growth Hormone Use in Adults With Prader-Willi Syndrome Completed NCT00444964 Phase 3 Nutropin AQ
9 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 Completed NCT04283578 Phase 3 OT;Placebo comparator
10 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) Completed NCT03649477 Phase 3 3.2 mg intranasal carbetocin;9.6 mg intranasal carbetocin;placebo
11 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome. Completed NCT02527200 Phase 3 liraglutide;placebo
12 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Completed NCT02804373 Phase 2, Phase 3 Oxytocin (OXT) continuous;Placebo;Placebo continuous;Oxytocin
13 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
14 A Randomized, Double-Blind, Placebo-Controlled Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Completed NCT03440814 Phase 3 DCCR;Placebo for DCCR
15 Long-term Interventional Follow-up Study up to 4 Years of Age of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial and Comparison With an Untreated Cohort of Children With Prader-Willi Syndrome Recruiting NCT05032326 Phase 3 Follow-up study of the treated cohort
16 An Open-Label, Long-Term Safety and Efficacy Evaluation of Diazoxide Choline Extended-Release Tablets in Participants With Prader-Willi Syndrome With a Double-Blind, Placebo-Controlled, Randomized Withdrawal Period Active, not recruiting NCT03714373 Phase 3 DCCR;Placebo for DCCR
17 A PHASE 3 MULTICENTER, OPEN LABEL, MULTI COHORT STUDY TO EVALUATE THE EFFICACY AND SAFETY OF SOMATROPIN IN JAPANESE PARTICIPANTS WITH PRADER-WILLI SYNDROME (PWS) Active, not recruiting NCT04697381 Phase 3
18 Effect of Intranasal Oxytocin on Dysphagia Related to Oropharyngo-oesophageal Dysmotility in Children and Adolescents With Prader-Willi Syndrome: a Phase 3 Study Active, not recruiting NCT05298085 Phase 2, Phase 3 Oxytocin nasal spray;Placebo
19 Global Growth Hormone Study in Adults With Prader-Willi Syndroom Not yet recruiting NCT04484051 Phase 3 Somatropin;Placebo
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 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
24 A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled Study of RAD011 (Cannabidiol Oral Solution) for the Treatment of Patients With Prader- Willi Syndrome Terminated NCT05098509 Phase 2, Phase 3 RAD011;Placebo
25 An Open-Label Study of Diazoxide Choline Controlled-Release Tablet in Patients With Prader-Willi Syndrome Withdrawn NCT04086810 Phase 3 DCCR
26 A Phase 3, Open-label Extension Study to Assess the Safety, Tolerability, and Efficacy of RAD011 (Cannabidiol Oral Solution) in Patients With Prader-Willi Syndrome Withdrawn NCT05387798 Phase 3 RAD011
27 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
28 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
29 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Completed NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT)
30 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
31 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
32 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
33 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
34 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
35 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
36 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
37 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)
38 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
39 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
40 Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome Recruiting NCT05541003 Phase 2 NBT-NM108
41 Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target Recruiting NCT03831425 Phase 2
42 Cannabidivarin (CBDV) vs. Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS) Recruiting NCT03848481 Phase 2 CBDV Compound;Placebo
43 A Randomized, Double-blind, Placebo-controlled, Multi-center, 2-part, Phase 2 Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome Recruiting NCT05322096 Phase 2 RGH-706;Placebo
44 A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Efficacy of ARD-101 in Patients With Prader-Willi Syndrome Recruiting NCT05153434 Phase 2 ARD-101
45 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
46 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 Active, not recruiting NCT04257929 Phase 2 Pitolisant oral tablets;Placebo oral tablet
47 A Phase 2b, Double-blind, Randomized, Placebo-controlled, Multi-center, 16-week Dose Finding, Safety and Efficacy Study With Open-label Extension (OLE) Period of Tesomet in Subjects With Prader-Willi Syndrome Suspended NCT05198362 Phase 2 Tesomet
48 A Multicenter, Open-Label Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Patients With Prader-Willi Syndrome Terminated NCT03458416 Phase 2 Cannabidiol Oral Solution
49 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 Terminated NCT02844933 Phase 2 Cannabidiol;Placebo
50 Transcutaneous Vagus Nerve Stimulation in Children With Prader-Willi Syndrome Withdrawn NCT04396470 Phase 1, Phase 2

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 NPAP1 PWAR1 PWRN1 SNORD115-1 SNORD116-1
2 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 28
3 Prader-Willi Syndrome Due to Translocation 28
4 Prader-Willi Syndrome Due to Imprinting Mutation 28

Anatomical Context for Prader-Willi Syndrome

Organs/tissues related to Prader-Willi Syndrome:

MalaCards : Pituitary, Skin, Brain, Eye, Kidney, Bone, Heart
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Prader-Willi Syndrome

Articles related to Prader-Willi Syndrome:

(show top 50) (show all 3559)
# Title Authors PMID Year
1
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. 53 62 24 57
18500341 2008
2
Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. 53 62 24 57
12915638 2003
3
High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. 53 62 24 57
12466337 2002
4
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. 53 62 24 57
8957518 1996
5
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. 62 24 57
24916642 2015
6
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. 62 24 57
22045295 2012
7
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. 62 24 57
19498035 2009
8
Hyperghrelinemia precedes obesity in Prader-Willi syndrome. 62 24 57
18460565 2008
9
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. 62 24 57
18303077 2008
10
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. 62 24 57
17103438 2007
11
Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. 62 24 57
17003096 2006
12
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. 62 24 57
15649943 2005
13
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. 62 24 57
15578038 2005
14
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. 62 24 57
15565282 2005
15
Psychotic disorders in Prader-Willi syndrome. 62 24 57
15150773 2004
16
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. 62 24 57
12545427 2003
17
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. 62 24 57
12519848 2003
18
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. 62 24 57
11809260 2002
19
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. 62 24 57
11694676 2001
20
Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. 62 24 57
11732491 2001
21
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 62 24 57
10417280 1999
22
Imprinting-mutation mechanisms in Prader-Willi syndrome. 62 24 57
9973278 1999
23
The neonatal presentation of Prader-Willi syndrome revisited. 62 24 57
9931534 1999
24
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 62 24 57
9634532 1998
25
Prader-Willi syndrome: consensus diagnostic criteria. 62 24 57
8424017 1993
26
Parental origin of chromosome 15 deletion in Prader-Willi syndrome. 62 24 57
6134086 1983
27
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. 62 24 57
7442771 1981
28
Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. 53 62 57
17264185 2007
29
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. 53 62 57
8874459 1996
30
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. 53 62 57
8723064 1996
31
Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. 53 62 57
7512861 1994
32
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. 53 62 57
8111365 1993
33
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. 53 62 57
8388764 1993
34
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. 53 62 57
1303277 1992
35
Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. 62 57
28682308 2018
36
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. 62 5
28631899 2017
37
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. 62 57
27854358 2017
38
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. 62 57
23928912 2014
39
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. 62 57
22585395 2012
40
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. 62 57
20053671 2010
41
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. 62 57
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. 53 62 24
18603572 2008
43
Mechanisms of imprinting of the Prader-Willi/Angelman region. 62 57
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. 62 57
18211968 2008
45
Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome. 53 62 24
17023209 2006
46
Ghrelin levels in young children with Prader-Willi syndrome. 53 62 24
16887433 2006
47
The neonatal phenotype of Prader-Willi syndrome. 62 57
16642508 2006
48
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. 62 57
16357227 2006
49
Hypocretin deficiency in Prader-Willi syndrome. 53 62 24
15613151 2005
50
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. 62 57
15459179 2004

Variations for Prader-Willi Syndrome

ClinVar genetic disease variations for Prader-Willi Syndrome:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 23 genes DEL Pathogenic
375417 GRCh37: 15:23707435-28520316
GRCh38:
2 overlap with 52 genes GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) CN LOSS Pathogenic
625711 GRCh37: 15:20848750-32925141
GRCh38:
3 overlap with 29 genes GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) CN LOSS Pathogenic
625713 GRCh37: 15:22770994-29050198
GRCh38:
4 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) CN LOSS Pathogenic
625716 GRCh37: 15:23615768-28561671
GRCh38:
5 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) CN LOSS Pathogenic
625717 GRCh37: 15:23683783-28530182
GRCh38:
6 overlap with 23 genes GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) CN LOSS Pathogenic
625718 GRCh37: 15:23810184-28525505
GRCh38:
7 HERC2 NM_004667.6(HERC2):c.11701-1G>A SNV Pathogenic
931703 rs1891259083 GRCh37: 15:28386993-28386993
GRCh38: 15:28141847-28141847
8 MAGEL2 NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) SNV Pathogenic
1685934 GRCh37: 15:23889996-23889996
GRCh38: 15:23644849-23644849
9 MAGEL2 NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) DUP Pathogenic
1685935 GRCh37: 15:23890790-23890791
GRCh38: 15:23645643-23645644
10 overlap with 28 genes GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) CN LOSS Pathogenic
1703557 GRCh37: 15:22770421-28635058
GRCh38:
11 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) SNV Pathogenic
208684 rs797044883 GRCh37: 15:23890978-23890978
GRCh38: 15:23645831-23645831
12 MAGEL2 NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) MICROSAT Likely Pathogenic
930278 rs1890356742 GRCh37: 15:23889944-23889945
GRCh38: 15:23644797-23644798
13 HERC2 NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) SNV Uncertain Significance
930448 rs759661460 GRCh37: 15:28441715-28441715
GRCh38: 15:28196569-28196569
14 NDN NM_002487.3(NDN):c.212A>G (p.Gln71Arg) SNV Uncertain Significance
930471 rs1891161078 GRCh37: 15:23932153-23932153
GRCh38: 15:23687006-23687006
15 HERC2 NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) SNV Uncertain Significance
930652 rs1009967374 GRCh37: 15:28436162-28436162
GRCh38: 15:28191016-28191016
16 MAGEL2 NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) SNV Uncertain Significance
930673 rs1267004913 GRCh37: 15:23889759-23889759
GRCh38: 15:23644612-23644612
17 NDN NM_002487.3(NDN):c.472dup (p.Thr158fs) DUP Uncertain Significance
930829 rs1891151702 GRCh37: 15:23931892-23931893
GRCh38: 15:23686745-23686746
18 MAGEL2 NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) SNV Uncertain Significance
930910 rs964772041 GRCh37: 15:23891670-23891670
GRCh38: 15:23646523-23646523
19 HERC2 NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) SNV Uncertain Significance
931263 rs1377524842 GRCh37: 15:28473477-28473477
GRCh38: 15:28228331-28228331
20 MAGEL2 NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) DEL Uncertain Significance
931010 rs779748148 GRCh37: 15:23892322-23892351
GRCh38: 15:23647175-23647204
21 HERC2 NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) SNV Uncertain Significance
931262 rs148150960 GRCh37: 15:28412963-28412963
GRCh38: 15:28167817-28167817
22 HERC2 NM_004667.6(HERC2):c.7069+3G>A SNV Uncertain Significance
1029884 rs778173804 GRCh37: 15:28456145-28456145
GRCh38: 15:28210999-28210999
23 NDN NM_002487.3(NDN):c.871C>A (p.Pro291Thr) SNV Uncertain Significance
1343260 GRCh37: 15:23931494-23931494
GRCh38: 15:23686347-23686347
24 NDN NM_002487.3(NDN):c.533G>A (p.Arg178Lys) SNV Uncertain Significance
548574 rs1555376130 GRCh37: 15:23931832-23931832
GRCh38: 15:23686685-23686685
25 HERC2 NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) SNV Uncertain Significance
392903 rs149338352 GRCh37: 15:28360685-28360685
GRCh38: 15:28115539-28115539
26 MAGEL2 NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) SNV Uncertain Significance
425062 rs1064797195 GRCh37: 15:23891175-23891175
GRCh38: 15:23646028-23646028
27 MAGEL2 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) SNV Likely Benign
193399 rs138628273 GRCh37: 15:23889873-23889873
GRCh38: 15:23644726-23644726
28 MAGEL2 NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) SNV Benign
435800 rs188762916 GRCh37: 15:23892505-23892505
GRCh38: 15:23647358-23647358

Copy number variations for Prader-Willi Syndrome from CNVD:

6 (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 NPAP1 Prader-willi syndrome
5 89254 15 17000000 31400000 Copy number NDN Prader-willi syndrome
6 89255 15 17000000 31400000 Copy number 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 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 DPH6 Prader-willi syndrome
35 91775 15 33471941 35072476 Deletion CSNK1A1P1 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

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 11.21 UBE3A SNURF SNRPN OCA2 NPAP1 NIPA2

GO Terms for Prader-Willi Syndrome

Sources for Prader-Willi Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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