PWS
MCID: PRD006
MIFTS: 74

Prader-Willi Syndrome (PWS) malady

Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Metabolic diseases categories

Summaries for Prader-Willi Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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: Prader-Willi Syndrome, also known as willi-prader syndrome, is related to obesity and angelman syndrome, and has symptoms including total/partial trisomy/duplication, insterstitial/subtelomeric microdeletion/deletion and generalized obesity. An important gene associated with Prader-Willi Syndrome is NDN (necdin, melanoma antigen (MAGE) family member). The compounds acth and oxyntomodulin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related mouse phenotype behavior/neurological.

Genetics Home Reference:21 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).

NIH Rare Diseases:42 Prader-willi syndrome (pws) is a complex genetic condition that affects many parts of the body. at birth, babies with pws have poor muscle tone and a weak cry. initially, they are slow feeders and appear undernourished. the feeding problems improve after infancy and often between 2 to 4 years of age, children with pws become very focused on food and have difficulty controlling their appetite. the overeating often results in rapid weight gain and obesity. individuals with pws also often have developmental delays and less-than-average adult height. psw is caused by missing or non-working genes on chromosome 15. most cases are not inherited, but occur randomly. last updated: 4/1/2011

Wikipedia:63 Prader–Willi syndrome (/ˈprɑːdər ˈvɪli/; abbreviated P.W.S) is a rare genetic disorder in which... more...

Description from OMIM:46 176270

GeneReviews summary for pws

Aliases & Classifications for Prader-Willi Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 20GeneTests, 22GTR, 56SNOMED-CT, 60UMLS, 34MeSH, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
prader-willi syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

prader-willi syndrome 8 9 63 19 42 21 46 10 44 48 33
willi-prader syndrome 42 20 22 21 48
prader-labhart-willi syndrome 63 19 21 48
pws 63 19 42 21
obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet 42
prader labhart willi syndrome 42
prader - willi syndrome 8
prader willi syndrome 8


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Disease Ontology8 DOID:11983
MeSH34 D011218
NCIt39 C75463
OMIM46 176270
ICD9CM27 759.81
SNOMED-CT56 205794007, 89392001
MESH via Orphanet35 D011218
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 89392001
UMLS via Orphanet61 C0032897

Related Diseases for Prader-Willi Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Prader-Willi Syndrome family:

Prader-Willi-Like Syndrome 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 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/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.6PYY, LSL, GHRL, AGRP, HCRT
2angelman syndrome31.5MKRN3, MAGEL2, ANCR, SNRPN, SNURF, GABRB3
3morbid obesity31.0GHRL, PYY
4hypogonadism30.9GHRL, LSL
5hypothyroidism30.3LSL, GHRL
6adult syndrome11.1
7sleep disorder10.7
8neuronitis10.6
9image syndrome10.6
10diabetes mellitus10.6
11down syndrome10.5
12n syndrome10.5
13autism spectrum disorder10.5
14thyroiditis10.5
15williams syndrome10.5
16cerebritis10.4
17fragile x syndrome10.4
18epilepsy syndrome10.4
19empty sella syndrome10.4
20urticaria pigmentosa10.4
21urticaria10.4
22sotos syndrome10.4
23oculocutaneous albinism10.4
24glomerulonephritis10.4
25intellectual disability10.4
26panniculitis10.4
27albinism10.4
28prader-willi syndrome due to paternal deletion of 15q11q13 type 110.4
29prader-willi syndrome due to paternal deletion of 15q11q13 type 210.4
30prader-willi syndrome due to translocation10.4
31prader-willi syndrome due to imprinting mutation10.4
32prader-willi syndrome due to paternal 15q11q13 deletion10.4
33prader-willi syndrome due to maternal uniparental disomy of chromosome 1510.4
34parkes weber syndrome10.2
35diabetic nephropathy10.2
36coronary artery disease10.2
37cardiac tamponade10.2
38membranoproliferative glomerulonephritis10.2
39klinefelter's syndrome10.2
40cryptorchidism10.2
41systemic lupus erythematosus10.2
42ocular albinism10.2
43distal arthrogryposis10.2
44good syndrome10.2
45factor xi deficiency10.2
46kleine-levin syndrome10.2
47duchenne muscular dystrophy10.2
48infertility10.2
49fetal alcohol syndrome10.2
50intermittent explosive disorder10.2

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



Diseases related to prader-willi syndrome

Clinical Features for Prader-Willi Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

176270

Clinical synopsis from OMIM:

176270

Symptoms:

48 (show all 29)
  • total/partial trisomy/duplication
  • insterstitial/subtelomeric microdeletion/deletion
  • generalized obesity
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • high vaulted/narrow palate
  • delayed bone age
  • psychic/behavioural troubles
  • simian crease/transverse/unique palmar crease
  • short hand/brachydactyly
  • scoliosis
  • ear cartilage deficiency
  • enamel anomaly
  • downturned mouth
  • telecanthus/canthal dystopy
  • strabismus/squint
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • clinodactyly of fifth finger
  • abnormal implantation of hair
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypotonia
  • ataxia/incoordination/trouble of the equilibrium
  • late puberty/hypogonadism/hypogenitalism
  • insulin-dependent/type 1 diabetes
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • micropenis/small penis/agenesis
  • renal glomerular defect/glomerulopathy
  • microcephaly

Drugs & Therapeutics for Prader-Willi Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Prader-Willi Syndrome

Drug clinical trials:

Search ClinicalTrials for Prader-Willi Syndrome

Search NIH Clinical Center for Prader-Willi Syndrome

Search CenterWatch for Prader-Willi Syndrome

Genetic Tests for Prader-Willi Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Prader-Willi Syndrome:

id Genetic test Affiliating Genes
1 Prader-Willi Syndrome20 22

Anatomical Context for Prader-Willi Syndrome

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32MalaCards
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MalaCards organs/tissues related to Prader-Willi Syndrome:

32
Brain, Testes, Bone, Skin, Pituitary, Thyroid, Heart, Cortex, Spinal cord, Eye, Testis, Pancreas, Salivary gland, Endothelial, Fetal brain, Hypothalamus

Animal Models for Prader-Willi Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Prader-Willi Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538611.1HCRT, MAGEL2, AGRP, GHRL, SNRPN, GABRB3

Publications for Prader-Willi Syndrome

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50PubMed
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Articles related to Prader-Willi Syndrome:

(show top 50)    (show all 718)
idTitleAuthorsYear
1
Clinical and genetic features of Prader-Willi syndrome in China. (23933672)
2014
2
Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome? (21874608)
2013
3
Thyroid function from birth to adolescence in Prader-Willi syndrome. (23623517)
2013
4
Glucose homeostasis in adults with Prader-Willi syndrome during treatment with growth hormone: Results from a 12-month prospective study. (24360789)
2013
5
Two years of growth hormone treatment in adults with Prader-Willi syndrome do not improve the low BMD. (23436915)
2013
6
Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-. (22379576)
2012
7
Mental health problems in children with prader-willi syndrome. (22876265)
2012
8
Loss of the Prader-Willi obesity syndrome protein necdin promotes adipogenesis. (22305984)
2012
9
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. (21633360)
2011
10
Sudden proximal spinal dislocation with complete spinal cord injury 1 week after spinal fusion in a child with Prader-Willi syndrome: a case report. (21394070)
2011
11
Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome. (20965292)
2011
12
Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome. (22606524)
2011
13
Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome. (20825553)
2010
14
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. (19048015)
2009
15
Respiratory changes in Prader-Willi syndrome. (19224093)
2009
16
Relationship between the IQ of people with Prader-Willi syndrome and that of their siblings: evidence for imprinted gene effects. (19207281)
2009
17
Variations in fetal phenotype in Prader-Willi syndrome. (19248040)
2009
18
Interdisciplinary behavioral intervention for life-threatening obesity in an adolescent with Prader-Willi syndrome - a case report. (18408535)
2008
19
Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. (18311513)
2008
20
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. (18665884)
2008
21
Conservative scoliosis treatment in patients with Prader-Willi syndrome. (18810044)
2008
22
Prader-Willi syndrome: an update and review for the primary pediatrician. (17522286)
2007
23
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. (17268193)
2007
24
Thyroid hormone levels in children with Prader-Willi syndrome before and during growth hormone treatment. (17716335)
2007
25
Klinefelter's syndrome and Prader-Willi syndrome: a rare combination. (17657135)
2007
26
Sudden death in Prader-Willi syndrome: brief review of five additional cases. Concerning the article by U. Eiholzer et al.: Deaths in children with Prader-Willi syndrome. A contribution to the debate about the safety of growth hormone treatment in children with PWS (Horm Res 2005;63:33-39). (17164585)
2007
27
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. (17158560)
2007
28
Recurrent panniculitis in an adolescent boy with Prader-Willi syndrome. (17052066)
2006
29
Obstructive sleep apnea syndrome in Prader-Willi Syndrome: an unrecognized and untreated cause of cognitive and behavioral deficits? (17109239)
2006
30
Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging. (16882785)
2006
31
Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. (17003096)
2006
32
Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. (15754036)
2005
33
Self concept in people with Williams syndrome and Prader-Willi syndrome. (15026090)
2004
34
High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. (12466337)
2002
35
Identification of a testis-specific gene (c15orf2) in the Prader- Willi syndrome region on chromosome 15. (10783265)
2000
36
Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization. (10959497)
2000
37
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. (9843050)
1998
38
Prader-Willi syndrome: relationship of adiposity to plasma leptin levels. (9618123)
1998
39
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. (9730612)
1998
40
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. (9017532)
1997
41
Effect of regional fat distribution and Prader-Willi syndrome on plasma leptin levels. (9024255)
1997
42
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. (9138157)
1997
43
Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. (7852523)
1995
44
Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. (7521122)
1994
45
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. (7951232)
1994
46
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. (7849716)
1994
47
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. (8486372)
1993
48
Prader-Willi syndrome and Sotos syndrome. (2706803)
1989
49
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. (3086578)
1986
50
Prader-Willi syndrome. (Hypotonia, obesity, hypogonadism, growth and mental retardation). (5581387)
1971

Genetic Variations for Prader-Willi Syndrome

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Expression for genes affiliated with Prader-Willi Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prader-Willi Syndrome

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Pathways for genes affiliated with Prader-Willi Syndrome

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Compounds for genes affiliated with Prader-Willi Syndrome

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1acth4411.2PYY, LSL, GHRL, AGRP, HCRT
2oxyntomodulin44 5912.1HCRT, AGRP, GHRL, PYY
3amphetamine44 1112.1PYY, GHRL, AGRP, HCRT
4c-peptide4411.1HCRT, GHRL, LSL, PYY
5cocaine44 1112.1PYY, GHRL, AGRP, HCRT
6gnrh4411.1PYY, LSL, GHRL, HCRT
7gaba4411.1HCRT, GHRL, GABRB3, PYY
8intralipid4411.1GHRL, LSL, PYY
9ethanol44 49 11 2414.1HCRT, GHRL, LSL, PYY
10orlistat44 59 1113.0PYY, LSL, GHRL
112-deoxyglucose44 1112.0AGRP, GHRL, PYY
12octreotide44 59 28 1114.0PYY, LSL, GHRL
13triacylglycerol4411.0GHRL, LSL, PYY
14norepinephrine44 11 2413.0PYY, LSL, GHRL, HCRT
15corticosterone44 59 2413.0LSL, GHRL, HCRT
16octadecaneuropeptide4410.9GHRL, HCRT
17haloperidol44 28 2 49 1114.9HCRT, LSL, PYY
18rimonabant44 28 1112.9GHRL, HCRT
19estradiol44 11 2412.9HCRT, GHRL, LSL, PYY
20pramlintide44 1111.9PYY, GHRL
21sibutramine44 1111.9PYY, LSL
22gamma-hydroxybutyrate4410.8HCRT, GHRL
23carbachol44 28 1112.8PYY, GHRL, HCRT
24acipimox44 2811.8LSL, GHRL
255-hydroxytryptamine4410.8HCRT, GHRL, PYY
26carbohydrates4410.7PYY, LSL, GHRL
27muscimol44 59 2812.6HCRT, GABRB3
28thyroxine44 2411.6HCRT, GHRL, LSL
29fatty acid4410.5PYY, LSL, GHRL, AGRP

GO Terms for genes affiliated with Prader-Willi Syndrome

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16Gene Ontology
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Biological processes related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adult feeding behaviorGO:00834310.6AGRP, GHRL
2regulation of excitatory postsynaptic membrane potentialGO:06007910.6HCRT, GHRL
3hormone-mediated signaling pathwayGO:00975510.5AGRP, GHRL
4eating behaviorGO:04275510.3HCRT, PYY

Molecular functions related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:00518410.6AGRP, PYY

Products for genes affiliated with Prader-Willi Syndrome

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Sources for Prader-Willi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet