Prader-Willi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PWS MCID: PRD006 MIFTS: 62	Prader-Willi Syndrome (PWS) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

ICD11: ³³

Developmental anomalies

Conditions with disorders of intellectual development as a relevant clinical feature

Prader-Willi syndrome

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

Orphanet ⁵⁸ ORPHA177907 ORPHA177910 ORPHA739 more

MedGen ⁴⁰ C0032897

SNOMED-CT via HPO ⁶⁹ 102572006 103021001 111266001 more

ICD11 ³³ 393773440

UMLS ⁷¹ C0032897

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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

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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:

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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)

Sources

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

Liraglutide

Approved

Phase 4

204656-20-2

44147092 16134956

Insulin, Globin Zinc

Phase 4

Insulin

Phase 4

Mitogens

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Hypoglycemic Agents

Phase 4

Incretins

Phase 4

Rimonabant

Approved, Investigational

Phase 3

168273-06-1, 158681-13-1

104850

Carbetocin

Approved, Investigational

Phase 3

37025-55-1

16681432

Oxytocin

Approved, Vet_approved

Phase 2, Phase 3

50-56-6

439302 53477758

Octreotide

Approved, Investigational

Phase 3

83150-76-9

383414 6400441

Somatostatin

Approved, Investigational

Phase 3

38916-34-6, 51110-01-1

53481605 16129706

Topiramate

Approved

Phase 3

97240-79-4

5284627

Gastrointestinal Agents

Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Anticonvulsants

Phase 3

Angiogenesis Inhibitors

Phase 3

CKD732

Phase 3

Metoprolol

Approved, Investigational

Phase 2

37350-58-6, 51384-51-1

4171

Racemethionine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

59-51-8, 63-68-3, 348-67-4

6137

Ubidecarenone

Approved, Investigational, Nutraceutical

Phase 2

303-98-0

5281915

Antimetabolites

Phase 1, Phase 2

Vasodilator Agents

Phase 1, Phase 2

Hypolipidemic Agents

Phase 1, Phase 2

Nootropic Agents

Phase 1, Phase 2

Lipid Regulating Agents

Phase 1, Phase 2

Vitamins

Phase 2

Trace Elements

Phase 2

Ubiquinone

Phase 2

Micronutrients

Phase 2

Adrenergic beta-Antagonists

Phase 2

Adrenergic beta-1 Receptor Antagonists

Phase 2

Adrenergic Antagonists

Phase 2

Anti-Arrhythmia Agents

Phase 2

Sympatholytics

Phase 2

Anastrozole

Approved, Investigational

120511-73-1

2187

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

Exenatide

Approved, Investigational

141758-74-9

45588096

Tangerine

Approved

Hydrocortisone succinate

Approved

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

50-03-3

Hydrocortisone

Approved, Vet_approved

50-23-7

3640 5754

Metyrapone

Approved, Investigational

54-36-4

4174

Tetracosactide

Approved

16960-16-0

16133802 16129617

Arginine

Approved, Investigational, Nutraceutical

74-79-3

6322

Liver Extracts

Estrogens

Estrogen Receptor Antagonists

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

Sources

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

Sources

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

Sources

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	Sahoo T...Beaudet AL	18500341	2008
2	Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. ⁵³ ⁶² ²⁴ ⁵⁷	Haqq AM...Purnell JQ	12915638	2003
3	High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. ⁵³ ⁶² ²⁴ ⁵⁷	DelParigi A...Tataranni PA	12466337	2002
4	Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. ⁵³ ⁶² ²⁴ ⁵⁷	Kubota T...Ledbetter DH	8957518	1996
5	Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. ⁶² ²⁴ ⁵⁷	Bieth E...Tauber M	24916642	2015
6	Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. ⁶² ²⁴ ⁵⁷	Kim SJ...Driscoll DJ	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	de Smith AJ...Blakemore AI	19498035	2009
8	Hyperghrelinemia precedes obesity in Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Feigerlova E...Tauber M	18460565	2008
9	High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	de Lind van Wijngaarden RF...Hokken-Koelega AC	18303077	2008
10	Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Miller JL...Driscoll DJ	17103438	2007
11	Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. ⁶² ²⁴ ⁵⁷	Festen DA...Hokken-Koelega AC	17003096	2006
12	Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. ⁶² ²⁴ ⁵⁷	Lee S...Wevrick R	15649943	2005
13	Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Wey E...Baumer A	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	Runte M...Buiting K	15565282	2005
15	Psychotic disorders in Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Vogels A...Fryns JP	15150773	2004
16	Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. ⁶² ²⁴ ⁵⁷	Buiting K...Horsthemke B	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	Haqq AM...Purnell JQ	12519848	2003
18	Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. ⁶² ²⁴ ⁵⁷	Boer H...Clarke D	11809260	2002
19	The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. ⁶² ²⁴ ⁵⁷	Gunay-Aygun M...Cassidy SB	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	Whittington JE...Boer H	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	Amos-Landgraf JM...Nicholls RD	10417280	1999
22	Imprinting-mutation mechanisms in Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Ohta T...Nicholls RD	9973278	1999
23	The neonatal presentation of Prader-Willi syndrome revisited. ⁶² ²⁴ ⁵⁷	Miller SP...Shevell MI	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	Buiting K...Horsthemke B	9634532	1998
25	Prader-Willi syndrome: consensus diagnostic criteria. ⁶² ²⁴ ⁵⁷	Holm VA...Greenberg F	8424017	1993
26	Parental origin of chromosome 15 deletion in Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Butler MG...Palmer CG	6134086	1983
27	Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. ⁶² ²⁴ ⁵⁷	Ledbetter DH...Crawford JD	7442771	1981
28	Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. ⁵³ ⁶² ⁵⁷	Marzullo P...Grugni G	17264185	2007
29	Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. ⁵³ ⁶² ⁵⁷	Wevrick R...Francke U	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	Ishikawa T...Wada Y	8723064	1996
31	Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. ⁵³ ⁶² ⁵⁷	Reed ML...Leff SE	7512861	1994
32	Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. ⁵³ ⁶² ⁵⁷	Buiting K...Horsthemke B	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	Knoll JH...Lalande M	8388764	1993
34	Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. ⁵³ ⁶² ⁵⁷	Ozcelik T...Francke U	1303277	1992
35	Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. ⁶² ⁵⁷	Manzardo AM...Butler MG	28682308	2018
36	Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. ⁶² ⁵	Jehee FS...Carvalho CMB	28631899	2017
37	Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. ⁶² ⁵⁷	Butler MG...Loker J	27854358	2017
38	Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. ⁶² ⁵⁷	Gold JA...Kimonis VE	23928912	2014
39	Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. ⁶² ⁵⁷	Sinnema M...Curfs LM	22585395	2012
40	The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. ⁶² ⁵⁷	Kishore S...Stamm S	20053671	2010
41	Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. ⁶² ⁵⁷	Fan Z...Powell CM	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	De Waele K...Chanoine JP	18603572	2008
43	Mechanisms of imprinting of the Prader-Willi/Angelman region. ⁶² ⁵⁷	Horsthemke B...Wagstaff J	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	Mogul HR...Southren AL	18211968	2008
45	Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome. ⁵³ ⁶² ²⁴	Priano L...Mauro A	17023209	2006
46	Ghrelin levels in young children with Prader-Willi syndrome. ⁵³ ⁶² ²⁴	Erdie-Lalena CR...Cummings DE	16887433	2006
47	The neonatal phenotype of Prader-Willi syndrome. ⁶² ⁵⁷	Oiglane-Shlik E...Ounap K	16642508	2006
48	The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. ⁶² ⁵⁷	Kishore S...Stamm S	16357227	2006
49	Hypocretin deficiency in Prader-Willi syndrome. ⁵³ ⁶² ²⁴	Nevsimalova S...Nishino S	15613151	2005
50	Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. ⁶² ⁵⁷	Chamberlain SJ...Brannan CI	15459179	2004

Sources

Genes for Prader-Willi Syndrome

Genes related to Prader-Willi Syndrome (13 elite genes):

(show top 50) (show all 164)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MAGEL2	MAGE Family Member L2	Protein Coding	599.16	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20301505 14593116
2	HERC2	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	512.64	Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	IPW	Imprinted In Prader-Willi Syndrome	RNA Gene	298.57	Experimental evidence: Expression ³⁷ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries (show sections)	7849716 9063754 23791884 (more) 24816254 8895514 9311744 8872030 9601023
4	NPAP1	Nuclear Pore Associated Protein 1	Protein Coding	277.18	Experimental evidence: Expression ³⁷ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	17337158
5	MKRN3-AS1	MKRN3 Antisense RNA 1	RNA Gene	264.81	Experimental evidence: Epigenetics ³⁷ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	10196367
6	MKRN3	Makorin Ring Finger Protein 3	Protein Coding	137.23	Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries Proteins (show sections)
7	PWRN1	Prader-Willi Region Non-Protein Coding RNA 1	RNA Gene	124.35	Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
8	PWAR1	Prader Willi/Angelman Region RNA 1	RNA Gene	113.99	Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	SNORD116-1	Small Nucleolar RNA, C/D Box 116-1	RNA Gene	108.83	Genetic Tests ²⁸ GeneCards inferred via : Publications (show sections)
10	SNORD115-1	Small Nucleolar RNA, C/D Box 115-1	RNA Gene	108.59	Genetic Tests ²⁸ GeneCards inferred via : Publications (show sections)
11	NDN	Necdin, MAGE Family Member	Protein Coding	85.61	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries Proteins (show sections)	24039599 18272695 14593116 (more) 18570257 9630521 12198120 15212237 10713459 19626646 16194933 11439287 15470499 9354807 11215400
12	SNRPN	Small Nuclear Ribonucleoprotein Polypeptide N	Protein Coding	77.03	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries (show sections)	11159938 12154412 8845846 (more) 9915945 8111367 10626556 8723064 1303277 8571960 8957518 9328477 8874459 18500341 10775525 17069464 15634360 10229769 10556313 9601023 17040959 7512861 1303276 10341083 8307564 10400982 12568729 8111365 14749005 9401540 8772055 9311744
13	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	40.33	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	20301505
14	SNHG14	Small Nucleolar RNA Host Gene 14	RNA Gene	165.33	Experimental evidence ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	23781896 25246219
15	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	150	Experimental evidence: Expression ³⁷	23791884
16	SNURF	SNRPN Upstream Open Reading Frame	Protein Coding	46.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries Functions (show sections)	10626556
17	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	36.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	8188218 1664410
18	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	27.9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11350123 17680527 10400982 (more) 9601023 17069464 12210318
19	GHRL	Ghrelin And Obestatin Prepropeptide	Protein Coding	26.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16887433 18603572 17047025 (more) 12466337 19178506 16507634 18710462 15292322 17304548 15292365 20019130 15754036 16173945 15506676 16859720 17596650 15795510 12915638 17449920 15956087 14610295
20	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	25.61	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
21	PWARSN	Prader Willi/Angelman Region RNA, SNRPN Neighbor	RNA Gene	23.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
22	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5	Protein Coding	23.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8388764
23	LEP	Leptin	Protein Coding	23.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10651760 9357929 12401940 (more) 10368796 9024255 11836343 20363464
24	IGF1	Insulin Like Growth Factor 1	Protein Coding	23.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10800760 12401940 2267923 (more) 16030173 17264185
25	PYY	Peptide YY	Protein Coding	22.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15754036 20019130 17223988 (more) 17596650
26	GH1	Growth Hormone 1	Protein Coding	20.9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9401542 10626558 17236440 (more) 9801990 17023209
27	AGRP	Agouti Related Neuropeptide	Protein Coding	20.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11836343
28	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	20.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7852523 9861478 8512084 (more) 9401539 15548416
29	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	20.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15613151 15985489 14638887
30	ADIPOQ	Adiponectin, C1Q And Collagen Domain Containing	Protein Coding	18.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20061428 16231029 16374018 (more) 17666087 17264186
31	LEPR	Leptin Receptor	Protein Coding	18.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20363464 11864851
32	NPY	Neuropeptide Y	Protein Coding	17.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11836343 11305409
33	SNORD109B	Small Nucleolar RNA, C/D Box 109B	RNA Gene	16.69	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
34	SNORD64	Small Nucleolar RNA, C/D Box 64	RNA Gene	16.15	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
35	CCK	Cholecystokinin	Protein Coding	16.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17596650
36	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	15.8	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	TUBGCP5	Tubulin Gamma Complex Associated Protein 5	Protein Coding	15.74	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	SIM1	SIM BHLH Transcription Factor 1	Protein Coding	15.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	15.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	INS	Insulin	Protein Coding	15.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	15.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	DLK1	Delta Like Non-Canonical Notch Ligand 1	Protein Coding	15.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	MC4R	Melanocortin 4 Receptor	Protein Coding	14.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	IGF2	Insulin Like Growth Factor 2	Protein Coding	14.69	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	POMC	Proopiomelanocortin	Protein Coding	14.67	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	DIO3	Iodothyronine Deiodinase 3	Protein Coding	14.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	LEPQTL1	Leptin, Serum Levels Of	Genetic Locus	14.21	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9357929 9497896 10368796 (more) 10776997 10681635
48	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	14.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	RETN	Resistin	Protein Coding	14.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16173945
50	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	13.88	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

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