PWS
MCID: PRD006
MIFTS: 72

Prader-Willi Syndrome (PWS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Metabolic diseases, Mental diseases categories
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Summaries for Prader-Willi Syndrome

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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 based summary: Prader-Willi Syndrome, also known as willi-prader syndrome, is related to obesity 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), 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: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 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:65 Prader?Willi syndrome (/?pr??d?r ?v?li/; abbreviated P.W.S) is a rare genetic disorder in which seven... more...

Descriptions from OMIM:46 176270,615547

GeneReviews summary for pws

Aliases & Classifications for Prader-Willi Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 39NCIt, 57SNOMED-CT, 34MeSH, 27ICD9CM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Prader-Willi Syndrome, Aliases & Descriptions:

Name: Prader-Willi Syndrome 8 9 65 19 42 21 46 10 44 48 33
Willi-Prader Syndrome 42 20 22 21 48
Prader-Labhart-Willi Syndrome 65 19 21 48
Pws 65 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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:11983
NCIt39 C75463
MeSH34 D011218
SNOMED-CT57 89392001, 205794007
ICD9CM27 759.81
MESH via Orphanet35 D011218
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0032897

Related Diseases for Prader-Willi Syndrome

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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 93)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.6HCRT, GHRL, AGRP
2morbid obesity31.3GHRL, HCRT
3angelman syndrome31.2NIPA2, NDN, GABRB3, MAGEL2, SNURF, SNRPN
4hypotonia10.8
5neuronitis10.7
6hypogonadism10.7
7sleep disorder10.6
8insulin resistance10.6
9diabetes mellitus10.6
10autism spectrum disorder10.6
11growth hormone deficiency10.6
12mental retardation10.6
13sleep apnea10.5
14thyroiditis10.5
15williams syndrome10.5
16hypersomnia10.5
17fragile x syndrome10.5
18down syndrome10.5
19obstructive sleep apnea10.5
20cerebritis10.5
21precocious puberty10.5
22mosaic trisomy 1510.5
23urticaria pigmentosa10.5
24empty sella syndrome10.5
25urticaria10.5
26leptin deficiency10.5
27glomerulonephritis10.4
28sotos syndrome10.4
29oculocutaneous albinism10.4
30panniculitis10.4
31albinism10.4
32central precocious puberty10.4
33prader-willi syndrome due to paternal deletion of 15q11q13 type 110.4
34prader-willi syndrome due to paternal deletion of 15q11q13 type 210.4
35prader-willi syndrome due to translocation10.4
36prader-willi syndrome due to imprinting mutation10.4
37prader-willi syndrome due to paternal 15q11q13 deletion10.4
38prader-willi syndrome due to maternal uniparental disomy of chromosome 1510.4
39parkes weber syndrome10.3
40diabetic retinopathy10.2
41dilated cardiomyopathy10.2
42duchenne muscular dystrophy10.2
43hepatitis10.2
44lymphedema10.2
45osteoporosis10.2
46spinal cord injury10.2
47systemic lupus erythematosus10.2
48tay-sachs disease10.2
49membranoproliferative glomerulonephritis10.2
50factor xi deficiency10.2

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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Symptoms by clinical synopsis from OMIM:

176270

Clinical features from OMIM:

176270,615547

Symptoms:

48 (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

HPO human phenotypes related to Prader-Willi Syndrome:

(show all 106)
id Description Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism hallmark (90%) HP:0000044
2 delayed speech and language development hallmark (90%) HP:0000750
3 infertility hallmark (90%) HP:0000789
4 growth hormone deficiency hallmark (90%) HP:0000824
5 global developmental delay hallmark (90%) HP:0001263
6 motor delay hallmark (90%) HP:0001270
7 generalized hypotonia hallmark (90%) HP:0001290
8 specific learning disability hallmark (90%) HP:0001328
9 obesity hallmark (90%) HP:0001513
10 failure to thrive in infancy hallmark (90%) HP:0001531
11 short foot hallmark (90%) HP:0001773
12 poor suck hallmark (90%) HP:0002033
13 polyphagia hallmark (90%) HP:0002591
14 short palm hallmark (90%) HP:0004279
15 narrow palm hallmark (90%) HP:0004283
16 short stature hallmark (90%) HP:0004322
17 cryptorchidism 85% HP:0000028
18 attention deficit hyperactivity disorder common (75%) HP:0007018
19 scrotal hypoplasia 69% HP:0000046
20 adrenal insufficiency 60% HP:0000846
21 primary amenorrhea 56% HP:0000786
22 micropenis typical (50%) HP:0000054
23 clitoral hypoplasia typical (50%) HP:0000060
24 hypoplastic labia minora typical (50%) HP:0000064
25 thin upper lip vermilion typical (50%) HP:0000219
26 narrow forehead typical (50%) HP:0000341
27 narrow nasal bridge typical (50%) HP:0000446
28 delayed puberty typical (50%) HP:0000823
29 cutaneous photosensitivity typical (50%) HP:0000992
30 nasal speech typical (50%) HP:0001611
31 recurrent respiratory infections typical (50%) HP:0002205
32 scoliosis typical (50%) HP:0002650
33 downturned corners of mouth typical (50%) HP:0002714
34 kyphosis typical (50%) HP:0002808
35 decreased muscle mass typical (50%) HP:0003199
36 almond-shaped palpebral fissure typical (50%) HP:0007874
37 sleep apnea typical (50%) HP:0010535
38 cryptorchidism typical (50%) HP:0000028
39 abnormality of the palate typical (50%) HP:0000174
40 microcephaly typical (50%) HP:0000252
41 strabismus typical (50%) HP:0000486
42 downslanted palpebral fissures typical (50%) HP:0000494
43 telecanthus typical (50%) HP:0000506
44 abnormality of dental enamel typical (50%) HP:0000682
45 behavioral abnormality typical (50%) HP:0000708
46 single transverse palmar crease typical (50%) HP:0000954
47 brachydactyly syndrome typical (50%) HP:0001156
48 seizures typical (50%) HP:0001250
49 muscular hypotonia typical (50%) HP:0001252
50 intrauterine growth retardation typical (50%) HP:0001511
51 obesity typical (50%) HP:0001513
52 incoordination typical (50%) HP:0002311
53 scoliosis typical (50%) HP:0002650
54 downturned corners of mouth typical (50%) HP:0002714
55 delayed skeletal maturation typical (50%) HP:0002750
56 abnormality of chromosome segregation typical (50%) HP:0002916
57 clinodactyly of the 5th finger typical (50%) HP:0004209
58 short stature typical (50%) HP:0004322
59 hypoplasia of penis typical (50%) HP:0008736
60 cognitive impairment typical (50%) HP:0100543
61 type i diabetes mellitus typical (50%) HP:0100651
62 hypoplasia of the ear cartilage typical (50%) HP:0100720
63 glomerulopathy typical (50%) HP:0100820
64 oligomenorrhea frequent (33%) HP:0000876
65 hypopigmentation of the skin frequent (33%) HP:0001010
66 ventriculomegaly frequent (33%) HP:0002119
67 hypopigmentation of hair frequent (33%) HP:0005599
68 impaired pain sensation frequent (33%) HP:0007328
69 iris hypopigmentation frequent (33%) HP:0007730
70 type ii diabetes mellitus 25% HP:0005978
71 autism 19% HP:0000717
72 psychosis 15% HP:0000709
73 seizures 15% HP:0001250
74 hip dysplasia 10% HP:0001385
75 myopia occasional (7.5%) HP:0000545
76 esotropia occasional (7.5%) HP:0000565
77 upslanted palpebral fissure occasional (7.5%) HP:0000582
78 carious teeth occasional (7.5%) HP:0000670
79 osteopenia occasional (7.5%) HP:0000938
80 osteoporosis occasional (7.5%) HP:0000939
81 syndactyly occasional (7.5%) HP:0001159
82 frontal upsweep of hair occasional (7.5%) HP:0002236
83 temperature instability occasional (7.5%) HP:0005968
84 poor fine motor coordination occasional (7.5%) HP:0007010
85 radial deviation of finger occasional (7.5%) HP:0009466
86 precocious puberty 4% HP:0000826
87 hypogonadism HP:0000135
88 intellectual disability HP:0001249
89 muscular hypotonia HP:0001252
90 truncal obesity HP:0001956
91 feeding difficulties in infancy HP:0008872
92 hypogonadism HP:0000135
93 intellectual disability HP:0001249
94 muscular hypotonia HP:0001252
95 truncal obesity HP:0001956
96 feeding difficulties in infancy HP:0008872
97 thin upper lip vermilion HP:0000219
98 dolichocephaly HP:0000268
99 hypermetropia HP:0000540
100 hyperinsulinemia HP:0000842
101 decreased fetal movement HP:0001558
102 hypoventilation HP:0002791
103 sporadic HP:0003745
104 poor gross motor coordination HP:0007015
105 generalized hypopigmentation HP:0007513
106 clinodactyly HP:0030084

Drugs & Therapeutics for Prader-Willi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Prader-Willi Syndrome

Search NIH Clinical Center for Prader-Willi Syndrome

Genetic Tests for Prader-Willi Syndrome

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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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MalaCards organs/tissues related to Prader-Willi Syndrome:

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

Animal Models for Prader-Willi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Prader-Willi Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.7AGRP, SNRPN, GHRL, OCA2
2MP:00028739.0AGRP, OCA2, GHRL, SNRPN, GABRB3, NDN
3MP:00053868.8MAGEL2, HCRT, OCA2, GHRL, SNRPN, AGRP

Publications for Prader-Willi Syndrome

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Articles related to Prader-Willi Syndrome:

(show top 50)    (show all 684)
idTitleAuthorsYear
1
Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus. (25246219)
2014
2
Patterns of habitual physical activity in youth with and without Prader-Willi Syndrome. (25129202)
2014
3
Social and emotional processing in Prader-Willi syndrome: genetic subtype differences. (23536992)
2013
4
Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome. (24144356)
2013
5
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. (23792373)
2013
6
The Mini-Gastric Bypass in the Management of Morbid Obesity in Prader-Willi Syndrome: A Viable Option? (24063639)
2013
7
Prader-Willi syndrome and sleep-disordered breathing. (24126982)
2013
8
Update on body composition and bone density in children with Prader-Willi syndrome. (23615452)
2013
9
Prader-Willi syndrome - care of adults in general practice. (23529462)
2013
10
Good cognitive performances in a child with Prader-Willi syndrome. (24238393)
2013
11
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
12
Nocturnal sleep measured by actigraphy in children with Prader-Willi syndrome. (23102789)
2013
13
Change in prevalence of congenital defects in children with Prader-Willi syndrome. (23296430)
2013
14
Intraoperative adrenal insufficiency in a patient with prader-willi syndrome. (23024738)
2012
15
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. (22045295)
2012
16
Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-. (22379576)
2012
17
Prader--Willi syndrome: 16-year experience in Hong Kong. (22685788)
2012
18
Prader-Willi Syndrome: Obesity due to Genomic Imprinting. (22043168)
2011
19
Clinical reporta89health supervision for children with Prader-Willi syndrome. (21187304)
2011
20
Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome. (22118318)
2011
21
Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report. (21552737)
2011
22
In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels. (21722955)
2011
23
Treatment of scoliosis in patients affected with Prader-Willi syndrome using various techniques. (20550681)
2010
24
Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. (20810574)
2010
25
Plasma adiponectin level and sleep structures in children with Prader-Willi syndrome. (19912511)
2010
26
Morbid obesity in an adolescent with Prader-Willi syndrome. (19543650)
2009
27
Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? (19028967)
2008
28
Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome. (18363884)
2008
29
Interdisciplinary behavioral intervention for life-threatening obesity in an adolescent with Prader-Willi syndrome - a case report. (18408535)
2008
30
Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. (18311513)
2008
31
The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome. (18177526)
2008
32
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. (17431897)
2008
33
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. (18665884)
2008
34
Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin. (17085944)
2007
35
Prader-Willi syndrome: medical prevention and behavioral challenges. (17562587)
2007
36
Nutrient intake and body composition variables in Prader-Willi syndrome--effect of growth hormone supplementation and genetic subtype. (17550213)
2007
37
Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. (16957680)
2007
38
Near demise of a child with Prader-Willi syndrome during elective orchidopexy. (16879524)
2006
39
Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism. (11869370)
2002
40
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. (12154412)
2002
41
Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome. (10229769)
1999
42
Serum leptin concentrations in obese women with Down syndrome and Prader-Willi syndrome. (10368796)
1999
43
Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. (9568805)
1998
44
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
45
The genetic basis for Prader-Willi syndrome: the importance of imprinted genes. (9401540)
1997
46
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. (8630505)
1996
47
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (8957518)
1996
48
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
49
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. (8266996)
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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Clinvar genetic disease variations for Prader-Willi Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1MAGEL2NM_019066.4(MAGEL2): c.1652delT (p.Val551Aspfs)deletionPathogenicrs398122415GRCh37Chr 15, 23891238: 23891238
2MAGEL2NM_019066.4(MAGEL2): c.1802delC (p.Pro601Glnfs)deletionPathogenicrs398122416GRCh37Chr 15, 23891088: 23891088
3MAGEL2NM_019066.4(MAGEL2): c.3181_3182delAT (p.Ile1061Hisfs)deletionPathogenicrs398122417GRCh37Chr 15, 23889708: 23889709
4MAGEL2NM_019066.4(MAGEL2): c.3124C> T (p.Gln1042Ter)single nucleotide variantPathogenicrs398122418GRCh37Chr 15, 23889766: 23889766

Expression for genes affiliated with Prader-Willi Syndrome

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

idCompoundScoreTop Affiliating Genes
1octadecaneuropeptide4410.2GHRL, HCRT
2rimonabant44 28 1112.1GHRL, HCRT
3gamma-hydroxybutyrate4410.1HCRT, GHRL
4oxyntomodulin44 6111.0AGRP, GHRL, HCRT
5amphetamine44 50 1112.0HCRT, GHRL, AGRP
6muscimol44 61 2811.9GABRB3, HCRT
7gaba449.8GABRB3, GHRL, HCRT
8cocaine44 1110.8AGRP, GHRL, HCRT
9acth449.5HCRT, GHRL, AGRP

GO Terms for genes affiliated with Prader-Willi Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1response to hormoneGO:00972510.1SNRPN, GHRL
2adult feeding behaviorGO:00834310.1AGRP, GHRL
3hormone-mediated signaling pathwayGO:00975510.0AGRP, GHRL
4eating behaviorGO:0427559.9HCRT, AGRP
5regulation of excitatory postsynaptic membrane potentialGO:0600799.7GHRL, HCRT

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet