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 high vaulted/narrow palate, abnormal implantation of hair and enamel anomaly. 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)
  • high vaulted/narrow palate
  • abnormal implantation of hair
  • enamel anomaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • simian crease/transverse/unique palmar crease
  • downturned mouth
  • total/partial trisomy/duplication
  • micropenis/small penis/agenesis
  • microcephaly
  • 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
  • insulin-dependent/type 1 diabetes
  • late puberty/hypogonadism/hypogenitalism
  • ear cartilage deficiency
  • clinodactyly of fifth finger
  • 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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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, Spinal cord, Fetal brain, Testis, Cortex, Hypothalamus, Salivary gland, Pancreas, Eye, Endothelial

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
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. (24311433)
2014
2
Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome. (24144356)
2013
3
Update on body composition and bone density in children with Prader-Willi syndrome. (23615452)
2013
4
Endocrine manifestations and management of Prader-Willi syndrome. (23962041)
2013
5
Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study. (23893676)
2013
6
'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome. (23704427)
2013
7
Postprandial cardiac autonomic function in Prader-Willi syndrome. (23106348)
2013
8
The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences. (24090687)
2013
9
Assessment of executive functions in Prader-Willi syndrome and relationship with intellectual level. (23606605)
2013
10
Sleep evaluation by actigraphy for children with Prader-Willi syndrome. (23623528)
2013
11
The glucagon-like peptide-1 analog liraglutide suppresses ghrelin and controls diabetes in a patient with Prader-Willi syndrome. (22785236)
2012
12
Saliva in Prader-Willi syndrome: quantitative and qualitative characteristics. (22673752)
2012
13
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. (22585395)
2012
14
Magel2, a Prader-Willi syndrome candidate gene, modulates the activities of circadian rhythm proteins in cultured cells. (22208286)
2011
15
Plasma adiponectin level and sleep structures in children with Prader-Willi syndrome. (19912511)
2010
16
Long-term growth hormone therapy changes the natural history of body composition and motor function in children with prader-willi syndrome. (20061431)
2010
17
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. (20020165)
2010
18
Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome. (20394819)
2010
19
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. (20588305)
2010
20
Respiratory Depression in Young Prader Willi Syndrome Patients following Clonidine Provocation for Growth Hormone Secretion Testing. (20368793)
2010
21
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. (19172181)
2009
22
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. (19533781)
2009
23
Morning melatonin levels in Prader-Willi syndrome. (19606476)
2009
24
The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome. (18177526)
2008
25
Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome: a ten-year follow-up. (18780599)
2008
26
In search of the psychosis gene in people with Prader-Willi syndrome. (18324689)
2008
27
Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. (18618997)
2008
28
Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample. (17919850)
2008
29
Molecular characterization of Prader-Willi syndrome by real-time PCR. (18554170)
2008
30
Necdin gene, respiratory disturbances and Prader-Willi syndrome. (18085265)
2008
31
Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. (18031326)
2008
32
Prader-Willi syndrome: medical prevention and behavioral challenges. (17562587)
2007
33
Unique retrotransposon LINE-1 distribution at the Prader-Willi Angelman syndrome locus. (17932619)
2007
34
X-chromosome inactivation patterns in females with Prader-Willi syndrome. (17036338)
2007
35
Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. (17103437)
2007
36
DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model. (17506103)
2007
37
Treatment of Prader-Willi syndrome with growth hormone: merits and limits of postmarketing surveillance studies. (17237834)
2007
38
Hypothyroidism in Prader-Willi syndrome: a case report and review of the literature. (17993776)
2007
39
Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. (17103434)
2007
40
Neural representations of hunger and satiety in Prader-Willi syndrome. (16276365)
2006
41
Anesthesia and Prader-Willi syndrome: preliminary experience with regional anesthesia. (16879513)
2006
42
Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome. (10229769)
1999
43
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. (10417280)
1999
44
Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. (9510443)
1998
45
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. (9643288)
1998
46
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. (8845846)
1996
47
Maladaptive behaviour in Prader-Willi syndrome in adult life. (8731473)
1996
48
The Prader-Willi syndrome and the Sotos syndrome: syndromes or sequences? (3168318)
1988
49
Carbamazepine for intermittent explosive disorder in a Prader-Willi syndrome patient. (3667542)
1987
50
Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. (3993677)
1985

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

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

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