PWS
MCID: PRD006
MIFTS: 71

Prader-Willi Syndrome (PWS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Mental diseases categories

Summaries for Prader-Willi Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 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 high vaulted/narrow palate, total/partial trisomy/duplication and downturned mouth. An important gene associated with Prader-Willi Syndrome is NDN (necdin, melanoma antigen (MAGE) family member), and among its related pathways is Gastric cancer network 2. The compounds octadecaneuropeptide and rimonabant have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related mouse phenotypes are adipose tissue and normal.

Genetics Home Reference:22 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:44 Prader-willi syndrome (pws) is a genetic condition that affects many parts of the body. infants with pws have low muscle tone, weak cry, feeding difficulties, and slow growth. 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 short stature. common behaviors include stubbornness, temper outburts, and obsessive-compulsive behavior. pws is caused by missing or non-working genes on chromosome 15. most cases are not inherited. last updated: 4/30/2014

Wikipedia:66 Prader?Willi syndrome (/?pr??d?r ?v?li/; abbreviated P.W.S) is a rare genetic disorder in which seven... more...

Description from OMIM:48 176270,615547

GeneReviews summary for pws

Aliases & Classifications for Prader-Willi Syndrome

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 21GeneTests, 23GTR, 59SNOMED-CT, 63UMLS, 36MeSH, 41NCIt, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
prader-willi syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

prader-willi syndrome 9 10 66 20 44 22 48 11 46 50 35
willi-prader syndrome 44 21 23 22 50
prader-labhart-willi syndrome 66 20 22 50
pws 66 20 44 22
obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet 44
prader labhart willi syndrome 44
prader - willi syndrome 9
prader willi syndrome 9


External Ids:

Disease Ontology9 DOID:11983
MeSH36 D011218
NCIt41 C75463
ICD9CM28 759.81
SNOMED-CT59 205794007, 89392001
MESH via Orphanet37 D011218
ICD10 via Orphanet27 Q87.1
SNOMED-CT via Orphanet60 89392001
UMLS via Orphanet64 C0032897

Related Diseases for Prader-Willi Syndrome

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18GeneCards, 19GeneDecks
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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-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/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.5HCRT, GHRL, AGRP
2angelman syndrome31.4NDN, NIPA2, GABRB3, MAGEL2, SNURF, SNRPN
3morbid obesity31.0GHRL, HCRT
4hypotonia10.7
5neuronitis10.7
6hypogonadism10.7
7sleep disorder10.6
8insulin resistance10.6
9diabetes mellitus10.6
10growth hormone deficiency10.6
11mental retardation10.6
12autism spectrum disorder10.5
13sleep apnea10.5
14thyroiditis10.5
15williams syndrome10.5
16hypersomnia10.5
17obstructive sleep apnea10.5
18cerebritis10.5
19fragile x syndrome10.5
20down syndrome10.5
21precocious puberty10.5
22mosaic trisomy 1510.5
23empty sella syndrome10.4
24urticaria pigmentosa10.4
25urticaria10.4
26leptin deficiency10.4
27sotos syndrome10.4
28oculocutaneous albinism10.4
29glomerulonephritis10.4
30intellectual disability10.4
31panniculitis10.4
32albinism10.4
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
41coronary artery disease10.2
42cardiac tamponade10.2
43klinefelter's syndrome10.2
44membranoproliferative glomerulonephritis10.2
45factor xi deficiency10.2
46kleine-levin syndrome10.2
47charge syndrome10.2
48duchenne muscular dystrophy10.2
49infertility10.2
50cryptorchidism10.2

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



Diseases related to prader-willi syndrome

Symptoms for Prader-Willi Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

176270

Clinical features from OMIM:

176270,615547

Symptoms:

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

Drugs & Therapeutics for Prader-Willi Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Prader-Willi Syndrome:

id Genetic test Affiliating Genes
1 Prader-Willi Syndrome21 23

Anatomical Context for Prader-Willi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Prader-Willi Syndrome:

34
Brain, Testes, Bone, Skin, Pituitary, Thyroid, Heart, Spinal cord, Eye, Cortex, Endothelial, Pancreas, Testis, Hypothalamus

Animal Models for Prader-Willi Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Prader-Willi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.5AGRP, SNRPN, GHRL, OCA2
2MP:00028738.8OCA2, GHRL, SNRPN, GABRB3, NDN, AGRP
3MP:00053868.5AGRP, HCRT, OCA2, GHRL, SNRPN, MAGEL2

Publications for Prader-Willi Syndrome

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53PubMed
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Articles related to Prader-Willi Syndrome:

(show top 50)    (show all 659)
idTitleAuthorsYear
1
Social and emotional processing in Prader-Willi syndrome: genetic subtype differences. (23536992)
2013
2
Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome. (24144356)
2013
3
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. (23792373)
2013
4
The Mini-Gastric Bypass in the Management of Morbid Obesity in Prader-Willi Syndrome: A Viable Option? (24063639)
2013
5
Prader-Willi syndrome and sleep-disordered breathing. (24126982)
2013
6
Update on body composition and bone density in children with Prader-Willi syndrome. (23615452)
2013
7
Prader-Willi syndrome - care of adults in general practice. (23529462)
2013
8
Good cognitive performances in a child with Prader-Willi syndrome. (24238393)
2013
9
Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. (23318724)
2013
10
Nocturnal sleep measured by actigraphy in children with Prader-Willi syndrome. (23102789)
2013
11
Change in prevalence of congenital defects in children with Prader-Willi syndrome. (23296430)
2013
12
Intraoperative adrenal insufficiency in a patient with prader-willi syndrome. (23024738)
2012
13
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. (22045295)
2012
14
Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-. (22379576)
2012
15
Prader--Willi syndrome: 16-year experience in Hong Kong. (22685788)
2012
16
Prader-Willi Syndrome: Obesity due to Genomic Imprinting. (22043168)
2011
17
Clinical reporta89health supervision for children with Prader-Willi syndrome. (21187304)
2011
18
Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome. (22118318)
2011
19
Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report. (21552737)
2011
20
In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels. (21722955)
2011
21
Treatment of scoliosis in patients affected with Prader-Willi syndrome using various techniques. (20550681)
2010
22
Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. (20810574)
2010
23
Plasma adiponectin level and sleep structures in children with Prader-Willi syndrome. (19912511)
2010
24
Morbid obesity in an adolescent with Prader-Willi syndrome. (19543650)
2009
25
Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? (19028967)
2008
26
Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome. (18363884)
2008
27
Interdisciplinary behavioral intervention for life-threatening obesity in an adolescent with Prader-Willi syndrome - a case report. (18408535)
2008
28
Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. (18311513)
2008
29
The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome. (18177526)
2008
30
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. (17431897)
2008
31
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. (18665884)
2008
32
Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin. (17085944)
2007
33
Prader-Willi syndrome: medical prevention and behavioral challenges. (17562587)
2007
34
Nutrient intake and body composition variables in Prader-Willi syndrome--effect of growth hormone supplementation and genetic subtype. (17550213)
2007
35
Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. (16957680)
2007
36
Near demise of a child with Prader-Willi syndrome during elective orchidopexy. (16879524)
2006
37
Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism. (11869370)
2002
38
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. (12154412)
2002
39
Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome. (10229769)
1999
40
Serum leptin concentrations in obese women with Down syndrome and Prader-Willi syndrome. (10368796)
1999
41
Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. (9568805)
1998
42
Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. (9510443)
1998
43
The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. (9412790)
1997
44
The genetic basis for Prader-Willi syndrome: the importance of imprinted genes. (9401540)
1997
45
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. (8630505)
1996
46
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (8957518)
1996
47
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
48
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. (8266996)
1993
49
Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). (8434620)
1993
50
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. (3086578)
1986

Variations for Prader-Willi Syndrome

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Expression for genes affiliated with Prader-Willi Syndrome

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database
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Pathways related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SNURF, SNRPN

Compounds for genes affiliated with Prader-Willi Syndrome

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46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 52PharmGKB
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Compounds related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octadecaneuropeptide4610.1GHRL, HCRT
2rimonabant46 30 1212.0GHRL, HCRT
3gamma-hydroxybutyrate4610.0HCRT, GHRL
4muscimol46 62 3011.9GABRB3, HCRT
5oxyntomodulin46 6210.8AGRP, GHRL, HCRT
6amphetamine46 52 1211.8HCRT, GHRL, AGRP
7gaba469.7GABRB3, GHRL, HCRT
8cocaine46 1210.6AGRP, GHRL, HCRT
9acth469.3HCRT, GHRL, AGRP

GO Terms for genes affiliated with Prader-Willi Syndrome

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17Gene Ontology
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Biological processes related to Prader-Willi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to hormoneGO:00972510.0SNRPN, GHRL
2adult feeding behaviorGO:00834310.0AGRP, GHRL
3hormone-mediated signaling pathwayGO:0097559.9AGRP, GHRL
4eating behaviorGO:0427559.8HCRT, AGRP
5regulation of excitatory postsynaptic membrane potentialGO:0600799.6GHRL, HCRT

Products for genes affiliated with Prader-Willi Syndrome

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Sources for Prader-Willi Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet