PWS
MCID: PRD006
MIFTS: 62

Prader-Willi Syndrome (PWS) malady

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

Aliases & Classifications for Prader-Willi Syndrome

Aliases & Descriptions for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome 54 12 71 23 50 24 25 56 13 52 41 42 14
Prader-Labhart-Willi Syndrome 23 50 24 25 56
Willi-Prader Syndrome 50 25 56 29
Pws 23 50 24 25
Prader Willi Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
prader-willi syndrome:
Inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is complete...

Classifications:



External Ids:

OMIM 54 176270
Disease Ontology 12 DOID:11983
ICD10 33 Q87.1
ICD9CM 35 759.81
MeSH 42 D011218
NCIt 47 C75463
SNOMED-CT 64 205794007 89392001
Orphanet 56 ORPHA739
MESH via Orphanet 43 D011218
UMLS via Orphanet 70 C0032897
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0032897

Summaries for Prader-Willi Syndrome

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

MalaCards based summary : Prader-Willi Syndrome, also known as prader-labhart-willi syndrome, is related to prader-willi syndrome due to paternal 15q11q13 deletion and prader-willi syndrome due to maternal uniparental disomy of chromosome 15, and has symptoms including ataxia, seizures and obesity. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways/superpathways are Adipogenesis and Circadian rythm related genes. The drugs Liraglutide and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotype is adipose tissue.

NIH Rare Diseases : 50 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. last updated: 7/7/2016

Genetics Home Reference : 25 Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).

OMIM : 54 Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation,... (176270) more...

Wikipedia : 71 Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In... more...

GeneReviews: NBK1330

Related Diseases for Prader-Willi Syndrome

Diseases in the Prader-Willi Syndrome family:

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2
Prader-Willi Syndrome Due to Translocation Prader-Willi Syndrome Due to Imprinting Mutation
Prader-Willi-Like Syndrome Due to Point Mutation Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 prader-willi syndrome due to paternal 15q11q13 deletion 12.1
2 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 12.1
3 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 12.1
4 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 12.1
5 prader-willi syndrome due to translocation 12.1
6 prader-willi syndrome due to imprinting mutation 12.1
7 schaaf-yang syndrome 11.7
8 angelman syndrome 11.7
9 hypotonia 11.5
10 floppy infant syndrome 11.2
11 infantile hypotonia 11.2
12 prader-willi habitus, osteopenia, and camptodactyly 11.2
13 obesity 10.8
14 scoliosis 10.4
15 morbid obesity 10.4
16 neuronitis 10.4
17 sleep disorder 10.3
18 hypogonadism 10.3
19 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 10.3 MAGEL2 NDN SNRPN
20 intellectual disability-cataracts-kyphosis syndrome 10.3 MAGEL2 NDN SNRPN
21 immunoglobulin a vasculitis 10.3 MAGEL2 NDN SNRPN
22 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 10.3 MAGEL2 NDN SNRPN
23 autism spectrum disorder 10.3
24 homozygous familial hypercholesterolemia 10.3 SNRPN UBE3A
25 growth hormone deficiency 10.3
26 sleep apnea 10.3
27 critical congenital heart disease 10.2 IGF1 MKRN3
28 precocious puberty 10.2
29 down syndrome 10.2
30 thyroiditis 10.2
31 hypersomnia 10.2
32 epilepsy 10.2
33 obstructive sleep apnea 10.2
34 malignant melanoma of the mucosa 10.2 IGF1 MKRN3
35 chagas disease 10.2 GHRL LEP PYY
36 cholesteatoma 10.2 GHRL LEP PYY
37 central nervous system leiomyoma 10.2 GHRL IGF1 LEP
38 diabetic encephalopathy 10.1 GHRL IGF1 LEP
39 mucopolysaccharidosis iii 10.1 GHRL LEP PYY
40 mosaic trisomy 15 10.1
41 cerebritis 10.1
42 intellectual disability 10.1
43 fragile x syndrome 10.1
44 exostosis 10.1 GHRL IGF1 LEP
45 urethral stricture 10.1 GABRA5 GABRB3 NIPA2
46 peroneal neuropathy 10.1 GHRL IGF1 LEP
47 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.1 GHRL IGF1 LEP PYY
48 adrenal adenoma 10.1 GHRL IGF1 LEP PYY
49 primary biliary cirrhosis 10.1 GHRL IGF1 LEP
50 glomerulonephritis 10.1

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



Diseases related to Prader-Willi Syndrome

Symptoms & Phenotypes for Prader-Willi Syndrome

Symptoms by clinical synopsis from OMIM:

176270

Clinical features from OMIM:

176270

Human phenotypes related to Prader-Willi Syndrome:

56 32 (show top 50) (show all 93)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 obesity 56 32 Frequent (79-30%) HP:0001513
4 high palate 56 32 Frequent (79-30%) HP:0000218
5 intellectual disability 56 32 Frequent (79-30%) HP:0001249
6 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
7 scoliosis 56 32 Frequent (79-30%) HP:0002650
8 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
9 global developmental delay 56 32 Frequent (79-30%) HP:0001263
10 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
11 microcephaly 56 32 Frequent (79-30%) HP:0000252
12 short stature 56 32 Frequent (79-30%) HP:0004322
13 type i diabetes mellitus 56 32 Frequent (79-30%) HP:0100651
14 strabismus 56 32 Frequent (79-30%) HP:0000486
15 short palm 56 32 Frequent (79-30%) HP:0004279
16 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
17 hypogonadotrophic hypogonadism 56 32 Frequent (79-30%) HP:0000044
18 glomerulopathy 56 32 Frequent (79-30%) HP:0100820
19 telecanthus 56 32 Frequent (79-30%) HP:0000506
20 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
21 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
22 hypoplasia of the ear cartilage 56 32 Frequent (79-30%) HP:0100720
23 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
24 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
25 downturned corners of mouth 56 32 Frequent (79-30%) HP:0002714
26 bilateral single transverse palmar creases 56 32 Frequent (79-30%) HP:0007598
27 abnormality of dental enamel 56 32 Frequent (79-30%) HP:0000682
28 specific learning disability 56 32 Frequent (79-30%) HP:0001328
29 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
30 abnormal hair pattern 56 32 Frequent (79-30%) HP:0010720
31 clinodactyly 32 HP:0030084
32 precocious puberty 32 HP:0000826
33 osteopenia 32 HP:0000938
34 kyphosis 32 HP:0002808
35 sleep apnea 32 HP:0010535
36 hip dysplasia 32 HP:0001385
37 recurrent respiratory infections 32 HP:0002205
38 type ii diabetes mellitus 32 HP:0005978
39 carious teeth 32 HP:0000670
40 delayed speech and language development 32 HP:0000750
41 feeding difficulties in infancy 32 HP:0008872
42 delayed puberty 32 HP:0000823
43 osteoporosis 32 HP:0000939
44 decreased muscle mass 32 HP:0003199
45 dolichocephaly 32 HP:0000268
46 short foot 32 HP:0001773
47 autism 32 HP:0000717
48 attention deficit hyperactivity disorder 32 HP:0007018
49 primary amenorrhea 32 HP:0000786
50 hyperinsulinemia 32 HP:0000842

MGI Mouse Phenotypes related to Prader-Willi Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.1 GHRL IGF1 LEP MAGEL2 PYY SNRPN

Drugs & Therapeutics for Prader-Willi Syndrome

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

(show top 50) (show all 72)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4,Phase 3 204656-20-2
2 Hormone Antagonists Phase 4,Phase 3
3 Hormones Phase 4,Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
5 Hypoglycemic Agents Phase 4,Phase 3
6 Incretins Phase 4,Phase 3
7
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
8
Topiramate Approved Phase 3 97240-79-4 5284627
9
Oxytocin Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-56-6 439302 53477758
10
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
11
Somatostatin Approved Phase 3 38916-34-6, 51110-01-1 53481605
12 Cannabinoid Receptor Antagonists Phase 3
13 Neurotransmitter Agents Phase 3,Phase 2
14 Anticonvulsants Phase 3
15 Anti-Obesity Agents Phase 3
16 Neuroprotective Agents Phase 3
17 Protective Agents Phase 3
18 Oxytocics Phase 2, Phase 3,Phase 1
19 Antineoplastic Agents, Hormonal Phase 3
20 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
21
Diazoxide Approved Phase 1, Phase 2 364-98-7 3019
22
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171
23
Choline Approved, Nutraceutical Phase 1, Phase 2 62-49-7 305
24 Antimetabolites Phase 1, Phase 2
25 Adrenergic Agents Phase 2
26 Autonomic Agents Phase 2
27 Peripheral Nervous System Agents Phase 2
28 Antihypertensive Agents Phase 1, Phase 2
29 Hypolipidemic Agents Phase 1, Phase 2
30 Lipid Regulating Agents Phase 1, Phase 2
31 Nootropic Agents Phase 1, Phase 2
32 Vasodilator Agents Phase 1, Phase 2
33 Adrenergic Antagonists Phase 2
34 Adrenergic beta-1 Receptor Antagonists Phase 2
35 Adrenergic beta-Antagonists Phase 2
36 Anti-Arrhythmia Agents Phase 2
37 Sympatholytics Phase 2
38 Pharmaceutical Solutions Phase 2
39 methionine Nutraceutical Phase 2
40
Exenatide Approved, Investigational 141758-74-9 15991534
41
Cosyntropin Approved 16960-16-0 16129617
42
Epinephrine Approved, Vet_approved 51-43-4 5816
43
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
44
Metyrapone Approved 54-36-4 4174
45
Anastrozole Approved, Investigational 120511-73-1 2187
46
Menthol Approved 2216-51-5 16666
47 Glucagon-Like Peptide 1
48 Adrenergic Agonists
49 Adrenergic alpha-Agonists
50 Adrenergic beta-Agonists

Interventional clinical trials:

(show top 50) (show all 66)
id Name Status NCT ID Phase
1 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
2 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
3 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4
4 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3
5 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3
6 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Completed NCT02810483 Phase 3
7 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Recruiting NCT02804373 Phase 2, Phase 3
8 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Recruiting NCT02204163 Phase 3
9 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome Recruiting NCT02527200 Phase 3
10 Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome Terminated NCT02179151 Phase 3
11 Prader-Willi Syndrome and Appetite Terminated NCT00175305 Phase 3
12 Ph 2 Trial to Evaluate Safety & Efficacy of RM-493 in Obese Patients With Prader-Willi Syndrome Completed NCT02311673 Phase 2
13 Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome Completed NCT02034071 Phase 1, Phase 2
14 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2
15 Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project Completed NCT00742664 Phase 1, Phase 2
16 An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome Completed NCT01818921 Phase 2
17 Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo Completed NCT01038570 Phase 2
18 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2
19 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies Completed NCT01548521 Phase 1, Phase 2
20 Co-administration of Tesofensine/Metoprolol in Subjects With Prader-Willi Syndrome (PWS) Recruiting NCT03149445 Phase 2
21 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Active, not recruiting NCT02629991 Phase 2
22 Cannabidiol Oral Solution for The Treatment of Subjects With Prader-Willi Syndrome Not yet recruiting NCT02844933 Phase 2
23 A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR) Not yet recruiting NCT02893618 Phase 2
24 Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome Unknown status NCT02297022 Phase 1
25 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1
26 Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers Completed NCT01401244 Phase 1
27 Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Active, not recruiting NCT02567357 Phase 1
28 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
29 Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome Unknown status NCT00551343
30 Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome Unknown status NCT02368379
31 Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study Unknown status NCT02058342
32 Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome Unknown status NCT00808548
33 PREPL in Health and Disease Unknown status NCT02263781
34 Hypoglycemia in Prader-Willi Syndrome Completed NCT01897363
35 Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity Completed NCT00375089
36 Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome Completed NCT00065923
37 Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome Completed NCT00705172
38 Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome Completed NCT01479322
39 Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome Completed NCT01622751
40 Cortisol Activity in Patients With Prader-Willi Syndrome and Healthy Controls Completed NCT00932932
41 Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome Completed NCT01444898
42 Increased Expression of Adiponectin Receptor 2 in the Mononuclear Cells in Children With Prader-Willi Syndrome Completed NCT00800852
43 Nordic Study on the Effects of Growth Hormone (Norditropin SimpleXx) Treatment in Adults With Prader-Willi Syndrome Completed NCT00372125
44 Prader-Willi Syndrome Macronutrient Study Completed NCT02011360
45 The Intestinal Function in People With Prader-Willi Syndrome Completed NCT01523288
46 Ghrelin Suppression by Octreotide in Prader-Willi Completed NCT01613495
47 Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome Completed NCT00474643
48 Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity Completed NCT01404624
49 Macronutrient Regulation of Ghrelin and Peptide YY Completed NCT02464514
50 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694

Search NIH Clinical Center for Prader-Willi Syndrome

Cochrane evidence based reviews: prader-willi syndrome

Genetic Tests for Prader-Willi Syndrome

Genetic tests related to Prader-Willi Syndrome:

id Genetic test Affiliating Genes
1 Prader-Willi Syndrome 29 24

Anatomical Context for Prader-Willi Syndrome

MalaCards organs/tissues related to Prader-Willi Syndrome:

39
Skin, Brain, Testes, Bone, Pituitary, Thyroid, Heart

Publications for Prader-Willi Syndrome

Articles related to Prader-Willi Syndrome:

(show top 50) (show all 818)
id Title Authors Year
1
Rigidity in routines and the development of resistance to change in individuals with Prader-Willi syndrome. ( 28266087 )
2017
2
Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens. ( 28427039 )
2017
3
The dilemma of diagnostic testing for Prader-Willi syndrome. ( 28164030 )
2017
4
Growth Hormone Treatment in Children With Prader-Willi Syndrome: Three Years of Longitudinal Data in Prepubertal Children and Adult Height Data From the KIGS Database. ( 28323917 )
2017
5
Cognition in people with Prader-Willi syndrome: Insights into genetic influences on cognitive and social development. ( 27836461 )
2017
6
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. ( 28371242 )
2017
7
Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome. ( 28331554 )
2017
8
Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis. ( 28510708 )
2017
9
Prader-Willi Syndrome: Background and Management. ( 28494825 )
2017
10
Physical activity and maximal oxygen uptake in adults with Prader-Willi syndrome. ( 28299717 )
2017
11
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability: A Case Study. ( 28383347 )
2017
12
Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay. ( 28296064 )
2017
13
"La Monstrua Desnuda": an artistic textbook representation of Prader-Willi syndrome in a painting of Juan CarreA+o de Miranda (1680). ( 28239764 )
2017
14
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly. ( 28266014 )
2017
15
Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass. ( 28503414 )
2017
16
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? ( 27941250 )
2017
17
Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome. ( 28338743 )
2017
18
Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study. ( 28264487 )
2017
19
The use of magnetic resonance imaging to characterize abnormal body composition phenotypes in youth with Prader-Willi syndrome. ( 28285653 )
2017
20
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. ( 28487784 )
2017
21
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. ( 27941249 )
2017
22
High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome. ( 27146407 )
2016
23
Microscopic structure of dental hard tissues in primary and permanent teeth from individuals with Prader-Willi syndrome. ( 26913968 )
2016
24
Prader Willi Syndrome: Genetics, Metabolomics, Hormonal Function, and New Approaches to Therapy. ( 27426895 )
2016
25
Baroreflex Dysfunction in Prader Willi Syndrome. ( 27134867 )
2016
26
Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study. ( 27381990 )
2016
27
Acylated and unacylated ghrelin during OGTT in Prader-Willi syndrome: A rebuttal to the conclusions by Kuppens et al. ( 27037909 )
2016
28
Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome. ( 28466625 )
2016
29
A mindfulness-based intervention for self-management of verbal and physical aggression by adolescents with Prader-Willi syndrome. ( 27019027 )
2016
30
Association between physical activity and bone in children with Prader-Willi syndrome. ( 27159915 )
2016
31
Diagnosis and treatment of GH deficiency in Prader-Willi syndrome. ( 27974191 )
2016
32
Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings. ( 26615966 )
2016
33
Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome. ( 27071367 )
2016
34
Prader-Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent. ( 27028699 )
2016
35
Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome. ( 27377921 )
2016
36
Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. ( 27931246 )
2016
37
Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). ( 27894106 )
2016
38
Prader-Willi syndrome in neonates: twenty cases and review of the literature in Southern China. ( 27506196 )
2016
39
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
40
Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome. ( 26888082 )
2016
41
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. ( 27121248 )
2016
42
Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. ( 26883647 )
2016
43
Nutritional intervention with hypocaloric diet for weight control in children and adolescents with Prader-Willi Syndrome. ( 26970733 )
2016
44
Adult Prader-Willi Syndrome: An Update on Management. ( 27375909 )
2016
45
Ambient temperature modulates the effects of the Prader-Willi syndrome candidate gene Snord116 on energy homeostasis. ( 27823858 )
2016
46
Promising effects of oxytocin on social and food-related behaviour in young children with Prader-Willi syndrome: a randomized, double-blind, controlled crossover trial. ( 27486141 )
2016
47
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. ( 27854358 )
2016
48
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. ( 28024084 )
2016
49
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome. ( 28004416 )
2016
50
Respiratory Complications in Children with Prader Willi Syndrome. ( 27839656 )
2016

Variations for Prader-Willi Syndrome

Copy number variations for Prader-Willi Syndrome from CNVD:

7 (show all 45)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13742 1 1 27800000 Deletion Prader-willi syndrome
2 89246 15 17000000 23300000 Copy number SNRPN Prader-willi syndrome
3 89251 15 17000000 31400000 Copy number Prader-willi syndrome
4 89253 15 17000000 31400000 Copy number C15orf2 Prader-willi syndrome
5 89254 15 17000000 31400000 Copy number NDN Prader-willi syndrome
6 89255 15 17000000 31400000 Copy number SNORD Prader-willi syndrome
7 89256 15 17000000 31400000 Copy number SNRPN Prader-willi syndrome
8 89261 15 17000000 31400000 Deletion Prader-willi syndrome
9 89262 15 17000000 31400000 Deletion Prader-willi syndrome
10 89263 15 17000000 31400000 Deletion Prader-willi syndrome
11 89267 15 17000000 31400000 Deletion UBE3A Prader-willi syndrome
12 89283 15 17000000 31400000 Duplication NDN Prader-willi syndrome
13 89285 15 17000000 31400000 Duplication SNRPN Prader-willi syndrome
14 89286 15 17000000 31400000 Duplication SNRPN Prader-willi syndrome
15 89289 15 17000000 31400000 Duplication UBE3A Prader-willi syndrome
16 89290 15 17000000 31400000 Duplication UBE3A Prader-willi syndrome
17 89292 15 17000000 31400000 Genomic rearrangemen t Prader-willi syndrome
18 89294 15 17000000 31400000 Microdeletion Prader-willi syndrome
19 89295 15 17000000 31400000 Microdeletion Prader-willi syndrome
20 89296 15 17000000 31400000 Microdeletion Prader-willi syndrome
21 89298 15 17000000 31400000 Microdeletion SNRPN Prader-willi syndrome
22 89413 15 18400000 23300000 Deletion Prader-willi syndrome
23 89434 15 18400000 31400000 Deletion Prader-willi syndrome
24 89562 15 18683000 27286000 Deletion Prader-willi syndrome
25 89763 15 19000000 33600000 Copy number Prader-willi syndrome
26 90357 15 21481646 21483543 Copy number NDN Prader-willi syndrome
27 90510 15 22619886 22795318 Copy number SNRPN Prader-willi syndrome
28 90529 15 22835594 23010179 Microdeletion HBII-85 Prader-willi syndrome
29 90530 15 22835594 23010179 Microdeletion SNURF Prader-willi syndrome
30 90531 15 22835594 23010179 Microdeletion SNRPN Prader-willi syndrome
31 90532 15 22835594 23010179 Microdeletion UBE3A Prader-willi syndrome
32 90759 15 23133488 23235221 Copy number UBE3A Prader-willi syndrome
33 91319 15 29000000 31400000 Microdeletion CHRNA7 Prader-willi syndrome
34 91774 15 33471941 35072476 Deletion ATPBD4 Prader-willi syndrome
35 91775 15 33471941 35072476 Deletion CSNK1A1P Prader-willi syndrome
36 91776 15 33471941 35072476 Deletion MEIS2 Prader-willi syndrome
37 112051 17 37800000 41900000 Loss Prader-willi syndrome
38 138424 X 152940457 153016382 Deletion MECP2 Prader-willi syndrome
39 160279 22 11800000 24300000 Microdeletion or mic roduplication Prader-willi syndrome
40 161857 22 20500000 21800000 Loss Prader-willi syndrome
41 198062 5 19000000 33600000 Deletion Prader-willi syndrome
42 203653 6 1 2300000 Gain Prader-willi syndrome
43 239337 8 38500000 39500000 Loss Prader-willi syndrome
44 257160 X 1 4300000 Loss Prader-willi syndrome
45 260244 X 146900000 154913754 Loss Prader-willi syndrome

Expression for Prader-Willi Syndrome

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

Pathways for Prader-Willi Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.45 IGF1 LEP NDN
3 10.19 GABRA5 GABRB3

GO Terms for Prader-Willi Syndrome

Cellular components related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GABA-A receptor complex GO:1902711 8.62 GABRA5 GABRB3

Biological processes related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gamma-aminobutyric acid signaling pathway GO:0007214 9.43 GABRA5 GABRB3
2 regulation of neuron apoptotic process GO:0043523 9.4 GABRA5 GABRB3
3 innervation GO:0060384 9.37 GABRA5 GABRB3
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.33 IGF1 LEP UBE3A
5 adult feeding behavior GO:0008343 9.32 GHRL LEP
6 inner ear receptor cell development GO:0060119 9.26 GABRA5 GABRB3
7 neuron development GO:0048666 9.13 GABRA5 GABRB3 NDN
8 bone mineralization involved in bone maturation GO:0035630 8.62 IGF1 LEP

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

id Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 8.96 GABRA5 GABRB3
2 hormone activity GO:0005179 8.92 GHRL IGF1 LEP PYY

Sources for Prader-Willi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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