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PWS
MCID: PRD006
MIFTS: 61

Prader-Willi Syndrome (PWS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Prader-Willi Syndrome

About this section

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 57 12 74 25 20 43 58 36 29 13 54 6 42 44 15 39
Prader-Labhart-Willi Syndrome 57 25 20 43 58
Pws 57 25 20 43
Willi-Prader Syndrome 20 43
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 58
Prader-Willi Syndrome Due to Imprinting Mutation 58
Prader-Willi Syndrome Due to Translocation 58
Prader Willi Syndrome 12
Upd(15)mat 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
imprinted disorder
unusual skill with jigsaw puzzle
most cases due to interstitial deletions, the remainder of cases are secondary to maternal disomy
rare cases secondary to chromosome translocation

Inheritance:
autosomal dominant (loss of paternal allele)


HPO:

31
prader-willi syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

25
Penetrance Penetrance is complete.

Classifications:

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


External Ids:

Disease Ontology 12 DOID:11983
OMIM® 57 176270
KEGG 36 H00478
ICD9CM 34 759.81
MeSH 44 D011218
NCIt 50 C75463
SNOMED-CT 67 205794007
ICD10 32 Q87.11
MESH via Orphanet 45 D011218
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0032897
MedGen 41 C0032897
SNOMED-CT via HPO 68 102572006 103021001 111266001 more
UMLS 71 C0032897
Sources

Summaries for Prader-Willi Syndrome

About this section
MedlinePlus Genetics : 43 Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).

MalaCards based summary : Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to schaaf-yang syndrome and angelman syndrome. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member). The drugs Liraglutide and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and bone, and related phenotypes are global developmental delay and delayed speech and language development

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

GARD : 20 Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.

OMIM® : 57 Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features. (176270) (Updated 05-Mar-2021)

MedlinePlus : 42 Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include Short stature Poor motor skills Weight gain Underdeveloped sex organs Mild intellectual and learning disabilities There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives. NIH: National Institute of Child Health and Human Development

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

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

GeneReviews: NBK1330
Sources

Related Diseases for Prader-Willi Syndrome

About this section

Diseases in the Prader-Willi Syndrome family:

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Sim1-Related Prader-Willi-Like Syndrome Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion

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

(show top 50) (show all 434)
# Related Disease Score Top Affiliating Genes
1 schaaf-yang syndrome 33.7 SNRPN NPAP1 NDN MAGEL2
2 angelman syndrome 33.5 UBE3A SNURF SNRPN SNORD116@ SNORD115-1 SNHG14
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 32.9 SNRPN SNORD116@ OCA2 NDN MAGEL2
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 32.9 SNRPN SNORD116@ OCA2 NDN MAGEL2
5 leptin deficiency or dysfunction 32.4 SNURF SNRPN SNORD116@ NPAP1 MAGEL2
6 autism spectrum disorder 32.0 UBE3A SNURF SNRPN SNHG14 NDN MAGEL2
7 autism 31.9 UBE3A SNURF SNRPN SNHG14 NDN MAGEL2
8 strabismus 31.5 SNRPN MKRN3 MAGEL2 ATP10A
9 esotropia 31.2 SNRPN MKRN3 MAGEL2
10 temple syndrome 31.1 SNRPN MKRN3 IPW
11 beckwith-wiedemann syndrome 31.0 UBE3A SNRPN MKRN3 H19
12 albinism, oculocutaneous, type ii 31.0 OCA2 HERC2
13 silver-russell syndrome 1 30.8 UBE3A SNRPN NDN MAGEL2 H19
14 hypotonia 11.5
15 infantile hypotonia 11.4
16 parkes weber syndrome 11.3
17 prader-willi syndrome due to paternal 15q11q13 deletion 11.3
18 prader-willi habitus, osteopenia, and camptodactyly 11.2
19 childhood apraxia of speech 11.2
20 floppy infant syndrome 11.2
21 partial deletion of the long arm of chromosome 15 11.2
22 sturge-weber syndrome 11.2
23 hypogonadism 11.2
24 maternal uniparental disomy 11.1
25 sleep apnea 10.9
26 alacrima, achalasia, and mental retardation syndrome 10.9
27 scoliosis 10.9
28 body mass index quantitative trait locus 11 10.9
29 growth hormone deficiency 10.8
30 cryptorchidism, unilateral or bilateral 10.8
31 chromosomal triplication 10.8
32 body mass index quantitative trait locus 1 10.7
33 chromosomal disease 10.7 UBE3A SNRPN SNORD116@ NPAP1 NDN MKRN3
34 hypothyroidism 10.7
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 uniparental disomy of chromosome 15 10.7
45 learning disability 10.7
46 syndromic obesity 10.7
47 insulin-like growth factor i 10.7
48 genetic obesity 10.7
49 hypogonadotropic hypogonadism 10.6
50 down syndrome 10.6

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



Diseases related to Prader-Willi Syndrome
Sources

Symptoms & Phenotypes for Prader-Willi Syndrome

About this section

Human phenotypes related to Prader-Willi Syndrome:

58 31 (show top 50) (show all 192)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0001263
2 delayed speech and language development 58 31 hallmark (90%) Frequent (79-30%),Occasional (29-5%) HP:0000750
3 short stature 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0004322
4 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0008872
5 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0000028
6 specific learning disability 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%) HP:0001328
7 obesity 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0001513
8 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
9 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002119
10 infertility 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000789
11 short foot 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001773
12 weak cry 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001612
13 narrow palm 58 31 hallmark (90%) Occasional (29-5%) HP:0004283
14 poor suck 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002033
15 polyphagia 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002591
16 failure to thrive in infancy 31 hallmark (90%) HP:0001531
17 short palm 31 hallmark (90%) HP:0004279
18 generalized hypotonia 31 hallmark (90%) HP:0001290
19 hypotonia 31 hallmark (90%) HP:0001252
20 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
21 decreased response to growth hormone stimuation test 31 hallmark (90%) HP:0000824
22 failure to thrive 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001508
23 scoliosis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0002650
24 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000819
25 osteopenia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000938
26 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002205
27 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001999
28 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001319
29 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
30 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001256
31 strabismus 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0000486
32 autism 58 31 very rare (1%) Frequent (79-30%) HP:0000717
33 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0007018
34 osteoporosis 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000939
35 primary amenorrhea 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000786
36 hypopigmentation of hair 58 31 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 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0002714
38 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
39 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
40 nasal speech 58 31 frequent (33%) Occasional (29-5%) HP:0001611
41 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0001558
42 hyporeflexia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001265
43 psychosis 58 31 very rare (1%) Occasional (29-5%),Frequent (79-30%) HP:0000709
44 small hand 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0200055
45 narrow nasal bridge 58 31 frequent (33%) Occasional (29-5%),Occasional (29-5%) HP:0000446
46 decreased testicular size 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008734
47 severe muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0006829
48 scrotal hypoplasia 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000046
49 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
50 intellectual disability, borderline 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006889

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
poor fine motor coordination
poor gross motor coordination
sleep disturbances
more
Skeletal:
osteopenia
osteoporosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hyperinsulinemia
growth hormone deficiency
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
scrotal hypoplasia
hypogonadotropic hypogonadism
small penis

Genitourinary External Genitalia Female:
hypoplastic labia minora
hypoplastic clitoris

Metabolic Features:
temperature instability

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

Skin Nails Hair Skin:
fair skin
sun sensitivity

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

Head And Neck Face:
narrow bitemporal diameter

Abdomen Gastrointestinal:
feeding problems in infancy requiring gavage feeds
decreased vomiting

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

Prenatal Manifestations Delivery:
breech position

Skeletal Spine:
scoliosis
kyphosis

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

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

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

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

Growth Height:
normal birth length
length deceleration in first few months
mean adult male height, 155 cm
mean adult female height, 147 cm
steady childhood growth
more
Voice:
hypernasal speech
weak or squeaky cry in infancy

Skin Nails Hair:
hypopigmentation

Head And Neck Teeth:
early dental caries

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

Prenatal Manifestations Movement:
decreased fetal activity

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

Clinical features from OMIM®:

176270 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Prader-Willi Syndrome

About this section

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4 204656-20-2 44147092
2 Insulin, Globin Zinc Phase 4
3 Mitogens Phase 4
4 insulin Phase 4
5 Hormones Phase 4
6 Hypoglycemic Agents Phase 4
7 Hormone Antagonists Phase 4
8 Incretins Phase 4
9
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
10
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
11
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
12
Diazoxide Approved Phase 3 364-98-7 3019
13
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
14
Topiramate Approved Phase 3 97240-79-4 5284627
15
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605
16
Choline Approved, Nutraceutical Phase 3 62-49-7 305
17 Gastrointestinal Agents Phase 3
18 Antineoplastic Agents, Hormonal Phase 3
19 Anticonvulsants Phase 3
20 Angiogenesis Inhibitors Phase 3
21 CKD732 Phase 3
22
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
23
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
25 Hypolipidemic Agents Phase 1, Phase 2
26 Antimetabolites Phase 1, Phase 2
27 Lipid Regulating Agents Phase 1, Phase 2
28 Vasodilator Agents Phase 1, Phase 2
29 Adrenergic Antagonists Phase 2
30 Adrenergic beta-Antagonists Phase 2
31 Sympatholytics Phase 2
32 Adrenergic beta-1 Receptor Antagonists Phase 2
33 Anti-Arrhythmia Agents Phase 2
34 Trace Elements Phase 2
35 Ubiquinone Phase 2
36 Vitamins Phase 2
37 Nutrients Phase 2
38 Micronutrients Phase 2
39 Pharmaceutical Solutions Phase 2
40 Epidiolex Phase 2
41
Anastrozole Approved, Investigational 120511-73-1 2187
42
Exenatide Approved, Investigational 141758-74-9 15991534
43 Tangerine Approved
44
Racepinephrine Approved 329-65-7 838
45
Cosyntropin Approved 16960-16-0 16129617
46
Metyrapone Approved, Investigational 54-36-4 4174
47
Hydrocortisone acetate Approved, Vet_approved 50-03-3
48
Epinephrine Approved, Vet_approved 51-43-4 5816
49
Hydrocortisone Approved, Vet_approved 50-23-7 5754
50 Aromatase Inhibitors

Interventional clinical trials:

(show top 50) (show all 97)
# 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 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
9 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
10 Growth Hormone Use in Adults With Prader-Willi Syndrome Completed NCT00444964 Phase 3 Nutropin AQ
11 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
12 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome. Completed NCT02527200 Phase 3 liraglutide;placebo
13 Oxytocin Treatment in Neonates and Infants Aged From 0 to 3 Months With Prader-Willi Syndrome : a Study of Safety and Efficacy on Oral and Social Skills and Feeding Behavior of Intranasal Administration of Oxytocin vs Placebo Recruiting NCT04283578 Phase 3 OT;Placebo comparator
14 Phase 3, Randomized, Double-Blind, Placebo-Controlled, 8-week Clinical Study to Assess the Efficacy, Safety, and Tolerability, of Intranasal Carbetocin (LV-101) in Prader-Willi Syndrome (PWS) With Long Term Follow-Up (CARE-PWS) Active, not recruiting NCT03649477 Phase 3 intranasal carbetocin Dose 1;intranasal carbetocin Dose 2;placebo
15 An Open-Label, Long-Term Safety Evaluation of Diazoxide Choline Controlled-Release Tablet in Patients With Prader-Willi Syndrome Active, not recruiting NCT03714373 Phase 3 DCCR
16 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) Not yet recruiting NCT04697381 Phase 3
17 An Open-Label Study of Diazoxide Choline Controlled-Release Tablet in Patients With Prader-Willi Syndrome Not yet recruiting NCT04086810 Phase 3 DCCR
18 Global Growth Hormone Study in Adults With Prader-Willi Syndroom Not yet recruiting NCT04484051 Phase 3 Somatropin;Placebo
19 Randomized, Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Subcutaneous Beloranib in Suspension) in Obese Subjects With Prader-Willi Syndrome to Evaluate Total Body Weight, Food-related Behavior, and Safety Over 6 Months Terminated NCT02179151 Phase 3 ZGN-440 for Injectable Suspension;ZGN-440 Placebo for Injectable Suspension
20 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
21 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
22 Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behaviour and Weight in Patients With Prader-Willi Syndrome Terminated NCT00175305 Phase 3 Sandostatin LAR
23 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
24 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
25 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
26 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
27 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)
28 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
29 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
30 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
31 A Double-blind, Randomized, Placebo-controlled, Multiple-dose, Multi-centre Safety and Efficacy Study of Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS) Completed NCT03149445 Phase 2 Tesofensine/Metoprolol;Placebos
32 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
33 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
34 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
35 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
36 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 Recruiting NCT04257929 Phase 2 Pitolisant oral tablets;Placebo oral tablet
37 Cannabidivarin (CBDV) vs. Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS) Recruiting NCT03848481 Phase 2 CBDV Compound;Placebo
38 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
39 Probiotics as a Long-term Treatment Strategy for Prader-Willi Syndrome Enrolling by invitation NCT04685057 Phase 1, Phase 2
40 Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target Not yet recruiting NCT03831425 Phase 2
41 Transcutaneous Vagus Nerve Stimulation in Children With Prader-Willi Syndrome Not yet recruiting NCT04396470 Phase 1, Phase 2
42 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
43 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
44 Phase 1 Study of Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome Unknown status NCT02297022 Phase 1
45 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1 Intranasal oxytocin
46 A Trial to Examine the Bioequivalence of Norditropin® Versus Genotropin® in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
47 Family-based Exercise Intervention for Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02058342
48 Post Exercise Irisin Levels in PWS Patients Unknown status NCT02728544
49 Experience With Growth Hormone (GH) in Children Under 2 Years With Prader-Willi Syndrome (PWS) in the Pediatric Endocrine Department of the Hospital of Sabadell Unknown status NCT02205450 Recombinant Somatropin
50 Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome Unknown status NCT00808548

Search NIH Clinical Center for Prader-Willi Syndrome

Cochrane evidence based reviews: prader-willi syndrome

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Genetic Tests for Prader-Willi Syndrome

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Genetic tests related to Prader-Willi Syndrome:

# Genetic test Affiliating Genes
1 Prader-Willi Syndrome 29 HERC2 IPW MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 SNRPN
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Anatomical Context for Prader-Willi Syndrome

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MalaCards organs/tissues related to Prader-Willi Syndrome:

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

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Articles related to Prader-Willi Syndrome:

(show top 50) (show all 3236)
# Title Authors PMID Year
1
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. 57 25 61 54
18500341 2008
2
Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. 57 54 61 25
12915638 2003
3
High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. 25 57 61 54
12466337 2002
4
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. 25 57 54 61
8957518 1996
5
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. 61 25 57
24916642 2015
6
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. 25 57 61
22045295 2012
7
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. 61 25 57
19498035 2009
8
Hyperghrelinemia precedes obesity in Prader-Willi syndrome. 61 25 57
18460565 2008
9
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. 25 57 61
18303077 2008
10
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. 61 57 25
17103438 2007
11
Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. 61 57 25
17003096 2006
12
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. 25 57 61
15649943 2005
13
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. 25 57 61
15578038 2005
14
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. 25 57 61
15565282 2005
15
Psychotic disorders in Prader-Willi syndrome. 61 25 57
15150773 2004
16
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. 57 25 61
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. 61 57 25
12519848 2003
18
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. 25 57 61
11809260 2002
19
Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. 57 61 25
11732491 2001
20
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. 57 61 25
11694676 2001
21
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 25 57 61
10417280 1999
22
Imprinting-mutation mechanisms in Prader-Willi syndrome. 61 57 25
9973278 1999
23
The neonatal presentation of Prader-Willi syndrome revisited. 25 57 61
9931534 1999
24
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 25 57 61
9634532 1998
25
Prader-Willi syndrome: consensus diagnostic criteria. 61 57 25
8424017 1993
26
Parental origin of chromosome 15 deletion in Prader-Willi syndrome. 61 57 25
6134086 1983
27
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. 61 57 25
7442771 1981
28
Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. 57 61 54
17264185 2007
29
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. 57 54 61
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. 61 54 57
8723064 1996
31
Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. 54 61 57
7512861 1994
32
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. 61 54 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. 57 54 61
8388764 1993
34
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. 57 54 61
1303277 1992
35
Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey. 61 57
28682308 2018
36
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. 57 61
27854358 2017
37
Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. 57 61
23928912 2014
38
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. 57 61
22585395 2012
39
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. 57 61
20053671 2010
40
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. 61 57
19533781 2009
41
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. 54 61 25
18603572 2008
42
Mechanisms of imprinting of the Prader-Willi/Angelman region. 61 57
18627066 2008
43
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. 57 61
18211968 2008
44
Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome. 54 61 25
17023209 2006
45
Ghrelin levels in young children with Prader-Willi syndrome. 61 25 54
16887433 2006
46
The neonatal phenotype of Prader-Willi syndrome. 57 61
16642508 2006
47
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. 57 61
16357227 2006
48
Hypocretin deficiency in Prader-Willi syndrome. 25 54 61
15613151 2005
49
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. 57 61
15459179 2004
50
Somatostatin infusion lowers plasma ghrelin without reducing appetite in adults with Prader-Willi syndrome. 25 61 54
15292365 2004
Sources

Variations for Prader-Willi Syndrome

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ClinVar genetic disease variations for Prader-Willi Syndrome:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP10A GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Pathogenic 625711 15:20848750-32925141
2 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Pathogenic 625713 15:22770994-29050198
3 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Pathogenic 625716 15:23615768-28561671
4 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Pathogenic 625717 15:23683783-28530182
5 ATP10A GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Pathogenic 625718 15:23810184-28525505
6 ATP10A Deletion Pathogenic 375417 15:23707435-28520316
7 MAGEL2 NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) SNV Pathogenic 208684 rs797044883 15:23890978-23890978 15:23645831-23645831
8 HERC2 NM_004667.6(HERC2):c.11701-1G>A SNV Pathogenic 931703 15:28386993-28386993 15:28141847-28141847
9 MAGEL2 NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) Microsatellite Likely pathogenic 930278 15:23889944-23889945 15:23644797-23644798
10 HERC2 NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) SNV Uncertain significance 930448 15:28441715-28441715 15:28196569-28196569
11 NDN NM_002487.3(NDN):c.212A>G (p.Gln71Arg) SNV Uncertain significance 930471 15:23932153-23932153 15:23687006-23687006
12 HERC2 NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) SNV Uncertain significance 930652 15:28436162-28436162 15:28191016-28191016
13 MAGEL2 NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) SNV Uncertain significance 930673 15:23889759-23889759 15:23644612-23644612
14 NDN NM_002487.3(NDN):c.472dup (p.Thr158fs) Duplication Uncertain significance 930829 15:23931892-23931893 15:23686745-23686746
15 MAGEL2 NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) SNV Uncertain significance 930910 15:23891670-23891670 15:23646523-23646523
16 MAGEL2 NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) Deletion Uncertain significance 931010 15:23892322-23892351 15:23647175-23647204
17 HERC2 NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) SNV Uncertain significance 931262 15:28412963-28412963 15:28167817-28167817
18 HERC2 NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) SNV Uncertain significance 931263 15:28473477-28473477 15:28228331-28228331
19 HERC2 NM_004667.5(HERC2):c.13612G>A (p.Val4538Met) SNV Uncertain significance 392903 rs149338352 15:28360685-28360685 15:28115539-28115539
20 MAGEL2 NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) SNV Uncertain significance 425062 rs1064797195 15:23891175-23891175 15:23646028-23646028
21 NDN NM_002487.3(NDN):c.533G>A (p.Arg178Lys) SNV Uncertain significance 548574 rs1555376130 15:23931832-23931832 15:23686685-23686685
22 MAGEL2 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) SNV Likely benign 193399 rs138628273 15:23889873-23889873 15:23644726-23644726
23 MAGEL2 NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) SNV Benign 435800 rs188762916 15:23892505-23892505 15:23647358-23647358

Copy number variations for Prader-Willi Syndrome from CNVD:

7 (show all 45)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13742 1 1 27800000 Deletion Prader-willi syndrome
2 89246 15 17000000 23300000 Copy number SNRPN Prader-willi syndrome
3 89251 15 17000000 31400000 Copy number Prader-willi syndrome
4 89253 15 17000000 31400000 Copy number 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 SNORD116@ 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
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Expression for Prader-Willi Syndrome

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

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GO Terms for Prader-Willi Syndrome

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Sources for Prader-Willi Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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