PWS
MCID: PRD006
MIFTS: 69

Prader-Willi Syndrome (PWS) malady

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

Summaries for Prader-Willi Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 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 angelman syndrome and morbid obesity, and has symptoms including microcephaly, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and strabismus/squint. 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 whole blood, brain and cortex, and related mouse phenotype behavior/neurological.

NIH Rare Diseases:43 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

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).

Wikipedia:64 Prader–Willi syndrome (/ˈprɑːdər ˈvɪli/; abbreviated P.W.S) is a rare genetic disorder in which... more...

Description from OMIM:47 176270

GeneReviews summary for pws

Aliases & Classifications for Prader-Willi Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 57SNOMED-CT, 61UMLS, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Reproductive, Endocrine, Muscle, Metabolic


Characteristics (Orphanet epidemiological data):

49
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 64 19 43 21 47 10 45 49 34
willi-prader syndrome 43 20 22 21 49
prader-labhart-willi syndrome 64 19 21 49
pws 64 19 43 21
obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet 43
prader labhart willi syndrome 43
prader - willi syndrome 8
prader willi syndrome 8


External Ids:

Disease Ontology8 DOID:11983
MeSH35 D011218
NCIt40 C75463
OMIM47 176270
ICD9CM27 759.81
SNOMED-CT57 205794007, 89392001
MESH via Orphanet36 D011218
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 89392001
UMLS via Orphanet62 C0032897

Related Diseases for Prader-Willi Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1angelman syndrome31.5MKRN3, MAGEL2, ANCR, SNRPN, SNURF, GABRB3
2morbid obesity31.0PYY, GHRL
3n syndrome11.2
4adult syndrome11.1
5bod syndrome11.0
6char syndrome10.9
7sleep disorder10.7
8hypotonia10.7
9micro syndrome10.7
10young syndrome10.7
11mass syndrome10.6
12growth hormone deficiency10.6
13insulin resistance10.6
14mental retardation10.6
15autism spectrum disorder10.5
16williams syndrome10.5
17hypersomnia10.5
18sleep apnea10.5
19obesity, early-onset10.5
20cousin syndrome10.5
21precocious puberty10.5
22image syndrome10.5
23empty sella syndrome10.4
24urticaria pigmentosa10.4
25urticaria10.4
26leptin deficiency10.4
27blount's disease10.4
28sotos syndrome10.4
29oculocutaneous albinism10.4
30albinism10.4
31short syndrome10.4
32chromosome 15q deletion10.4
33central precocious puberty10.4
34prader-willi syndrome due to paternal deletion of 15q11q13 type 110.4
35prader-willi syndrome due to paternal deletion of 15q11q13 type 210.4
36prader-willi syndrome due to translocation10.4
37prader-willi syndrome due to imprinting mutation10.4
38prader-willi syndrome due to paternal 15q11q13 deletion10.4
39prader-willi syndrome due to maternal uniparental disomy of chromosome 1510.4
40parkes weber syndrome10.2
41diabetic nephropathy10.2
42coronary artery disease,10.2
43cardiac tamponade10.2
44membranoproliferative glomerulonephritis10.2
45klinefelter's syndrome10.2
46cryptorchidism10.2
47systemic lupus erythematosus10.2
48ocular albinism10.2
49distal arthrogryposis10.2
50good syndrome10.2

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



Diseases related to prader-willi syndrome

Clinical Features for Prader-Willi Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

176270

Clinical synopsis from OMIM:

176270

Symptoms:

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

Drugs & Therapeutics for Prader-Willi Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Prader-Willi Syndrome:

id Genetic test Affiliating Genes
1 Prader-willi Syndrome20 22

Anatomical Context for Prader-Willi Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Prader-Willi Syndrome:

33
Whole blood, Brain, Cortex, Spinal cord, Heart, Pancreas, Thyroid, Salivary gland, Adrenal gland, Skin, Testis, T cells, Endothelial, Fetal brain, Prefrontal cortex, Hypothalamus, Fetal thyroid, Adrenal cortex, Pituitary, Testis leydig

Animal Models for Prader-Willi Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Prader-Willi Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538611.1HCRT, MAGEL2, AGRP, GHRL, SNRPN, GABRB3

Publications for Prader-Willi Syndrome

Sources:
51PubMed
See all sources

Articles related to Prader-Willi Syndrome:

(show top 50)    (show all 727)
idTitleAuthorsYear
1
Social and emotional processing in Prader-Willi syndrome: genetic subtype differences. (23536992)
2013
2
Prader-Willi syndrome and sleep-disordered breathing. (24126982)
2013
3
Nocturnal sleep measured by actigraphy in children with Prader-Willi syndrome. (23102789)
2013
4
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation. (23856564)
2013
5
Effects of growth hormone treatment in adults with Prader-Willi syndrome. (23433655)
2013
6
Cardiac evaluation in children with Prader-Willi syndrome. (22181352)
2012
7
Prader-willi syndrome: clinical aspects. (23133744)
2012
8
Outcomes of adenotonsillectomy in patients with prader-willi syndrome. (23165379)
2012
9
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. (22720067)
2012
10
Severe tooth wear in Prader-Willi syndrome. A case-control study. (22639910)
2012
11
Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report. (21552737)
2011
12
Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome. (21932585)
2011
13
Longitudinal association between growth hormone therapy and obstructive sleep apnea in a child with Prader-Willi syndrome. (20943780)
2011
14
Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader-Willi syndrome. (20847547)
2011
15
A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. (20960156)
2010
16
Clinical management of behavioral characteristics of Prader-Willi syndrome. (20505842)
2010
17
Prader-Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea. (20814307)
2010
18
Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome. (19729946)
2009
19
Short-term effects of growth hormone treatment on the upper airways of non severely obese children with Prader-Willi syndrome. (19498323)
2009
20
Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome. (19837938)
2009
21
"Efficacy of laparoscopic sleeve gastrectomy as a stand-alone technique for children with morbid obesity" and "BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits". (18982398)
2009
22
Breathing deficits of the Prader-Willi syndrome. (19712904)
2009
23
Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? (19028967)
2008
24
Treatment of precocious puberty in a female with Prader-Willi syndrome. (18655533)
2008
25
Testicular histology in boys with Prader-Willi syndrome: fertile or infertile? (18721940)
2008
26
Lymphedema in Prader-Willi syndrome. (18986486)
2008
27
Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. (18263693)
2008
28
Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin. (17085944)
2007
29
Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy. (17850637)
2007
30
Adiponectin levels in prepubertal children with Prader-Willi syndrome before and during growth hormone therapy. (17264186)
2007
31
The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. (17181601)
2007
32
Screening of Prader-Willi syndrome and Angelman syndrome in school children with moderate to profound mental retardation in southern Taiwan. (17626606)
2007
33
A lesser postprandial suppression of plasma ghrelin in Prader-Willi syndrome is associated with low fasting and a blunted postprandial PYY response. (17223988)
2007
34
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. (17159828)
2006
35
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. (16982806)
2006
36
Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. (15637708)
2005
37
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. (15796127)
2005
38
Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. (12915638)
2003
39
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. (12519848)
2003
40
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. (14508708)
2003
41
Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). (11807885)
2002
42
Syndromes with salivary dysfunction predispose to tooth wear: Case reports of congenital dysfunction of major salivary glands, Prader-Willi, congenital rubella, and SjAPgren's syndromes. (11458244)
2001
43
Serum leptin concentrations in children with Prader-Willi syndrome and non-syndromal obesity. (10776997)
2000
44
Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). (9674903)
1998
45
The growth hormone response to hexarelin in patients with Prader-Willi syndrome. (9801990)
1998
46
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (8957518)
1996
47
Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics. (7762584)
1995
48
Growth hormone secretion in Prader-Willi syndrome. (2267923)
1990
49
Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? (6713711)
1984
50
Syndrome of retarded growth, obesity, muscular hypotonia and mental deficiency (Prader-Willi syndrome). Report of a case. (5720051)
1968

Genetic Variations for Prader-Willi Syndrome

Expression for genes affiliated with Prader-Willi Syndrome

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

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

Pathways for genes affiliated with Prader-Willi Syndrome

Compounds for genes affiliated with Prader-Willi Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1acth4511.2PYY, LSL, GHRL, AGRP, HCRT
2oxyntomodulin45 6012.1HCRT, AGRP, GHRL, PYY
3amphetamine45 1112.1PYY, GHRL, AGRP, HCRT
4c-peptide4511.1HCRT, GHRL, LSL, PYY
5cocaine45 1112.1PYY, GHRL, AGRP, HCRT
6gnrh4511.1PYY, LSL, GHRL, HCRT
7gaba4511.1HCRT, GHRL, GABRB3, PYY
8intralipid4511.1GHRL, LSL, PYY
9ethanol45 50 11 2414.1HCRT, GHRL, LSL, PYY
10orlistat45 60 1113.0PYY, LSL, GHRL
112-deoxyglucose45 1112.0AGRP, GHRL, PYY
12octreotide45 60 29 1114.0PYY, LSL, GHRL
13triacylglycerol4511.0GHRL, LSL, PYY
14norepinephrine45 11 2413.0PYY, LSL, GHRL, HCRT
15corticosterone45 60 2413.0LSL, GHRL, HCRT
16octadecaneuropeptide4510.9GHRL, HCRT
17haloperidol45 29 2 50 1114.9HCRT, LSL, PYY
18rimonabant45 29 1112.9GHRL, HCRT
19estradiol45 11 2412.9HCRT, GHRL, LSL, PYY
20pramlintide45 1111.9PYY, GHRL
21sibutramine45 1111.9PYY, LSL
22gamma-hydroxybutyrate4510.8HCRT, GHRL
23carbachol45 29 1112.8PYY, GHRL, HCRT
24acipimox45 2911.8LSL, GHRL
255-hydroxytryptamine4510.8HCRT, GHRL, PYY
26carbohydrates4510.7PYY, LSL, GHRL
27muscimol45 60 2912.6HCRT, GABRB3
28thyroxine45 2411.6HCRT, GHRL, LSL
29fatty acid4510.5PYY, LSL, GHRL, AGRP

GO Terms for genes affiliated with Prader-Willi Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prader-Willi Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet