Prader-Willi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRD006 MIFTS: 61	Prader-Willi Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases
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Aliases & Classifications for Prader-Willi Syndrome

MalaCards integrated aliases for Prader-Willi Syndrome:

Name: Prader-Willi Syndrome ⁵⁷ ¹² ⁷⁶ ²⁴ ⁵³ ²⁵ ⁵⁹ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴³ ⁴⁴ ¹⁵ ⁴⁰

Prader-Labhart-Willi Syndrome ⁵⁷ ²⁴ ⁵³ ²⁵ ⁵⁹

Pws ⁵⁷ ²⁴ ⁵³ ²⁵

Willi-Prader Syndrome ⁵³ ²⁵ ⁵⁹

Prader Willi Syndrome ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

prader-willi syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁷

Miscellaneous:
temperature instability
high pain threshold
excessive skin picking of sores
food related behavioral problems include excessive appetite and obsession with eating
decreased fetal activity
breech position
behavioral problems including stubbornness and rage
sleep disturbance or sleep apnea (obstructive, central, or mixed)
unusual skill with jigsaw puzzle

Inheritance:
isolated cases

HPO:

³²

prader-willi syndrome:
Inheritance sporadic

GeneReviews:

²⁴

Penetrance Penetrance is complete...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁹

Rare neurological diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 176270

Disease Ontology ¹² DOID:11983

ICD10 ³³ Q87.1

ICD9CM ³⁵ 759.81

MeSH ⁴⁴ D011218

NCIt ⁵⁰ C75463

SNOMED-CT ⁶⁸ 205794007 89392001

Orphanet ⁵⁹ ORPHA739

MESH via Orphanet ⁴⁵ D011218

UMLS via Orphanet ⁷⁴ C0032897

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C0032897

KEGG ³⁷ H00478

SNOMED-CT via HPO ⁶⁹ 204878001 33927004 204912007 more

UMLS ⁷³ C0032897

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Summaries for Prader-Willi Syndrome

MedlinePlus : ⁴³ 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 prader-labhart-willi syndrome, is related to prader-willi syndrome due to maternal uniparental disomy of chromosome 15 and prader-willi syndrome due to imprinting mutation. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways/superpathways is Synaptic Neurotransmission Pathways: GABAergic Inhibition. The drugs Liraglutide and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotypes are obesity and high palate

Genetics Home Reference : ²⁵ 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 (the most common form of diabetes).

NIH Rare Diseases : ⁵³ Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.

OMIM : ⁵⁷ Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features. (176270)

Wikipedia : ⁷⁶ Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns... more...

GeneReviews: NBK1330

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Related Diseases for Prader-Willi Syndrome

Diseases in the Prader-Willi Syndrome family:

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 a 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 Suite gene sharing:

(show top 50) (show all 124)

#	Related Disease	Score	Top Affiliating Genes
1	prader-willi syndrome due to maternal uniparental disomy of chromosome 15	34.9	MAGEL2 NDN SNRPN
2	prader-willi syndrome due to imprinting mutation	34.9	MAGEL2 NDN SNRPN
3	prader-willi syndrome due to paternal deletion of 15q11q13 type 1	34.8	MAGEL2 NDN SNRPN
4	prader-willi syndrome due to paternal deletion of 15q11q13 type 2	34.8	MAGEL2 NDN SNRPN
5	angelman syndrome	33.1	GABRA5 GABRB3 MAGEL2 NDN NIPA2 NPAP1
6	autism	31.7	GABRA5 GABRB3 MAGEL2 NDN SNRPN UBE3A
7	autism spectrum disorder	31.1	GABRB3 MAGEL2 UBE3A
8	schaaf-yang syndrome	12.3
9	prader-willi syndrome due to translocation	12.2
10	prader-willi syndrome due to paternal 15q11q13 deletion	12.2
11	hypotonia	11.6
12	parkes weber syndrome	11.4
13	prader-willi habitus, osteopenia, and camptodactyly	11.3
14	wilson-turner x-linked mental retardation syndrome	11.3
15	childhood apraxia of speech	11.3
16	floppy infant syndrome	11.3
17	infantile hypotonia	11.3
18	chromosome 15q13.3 deletion syndrome	11.1	NPAP1 UBE3A
19	angelman syndrome due to imprinting defect in 15q11-q13	10.9	SNRPN UBE3A
20	chromosomal disease	10.8	GABRB3 IPW MAGEL2 MKRN3 NDN SNRPN
21	childhood absence epilepsy	10.7	GABRA5 GABRB3 NIPA2
22	childhood electroclinical syndrome	10.6	GABRA5 GABRB3
23	aging	10.5
24	scoliosis	10.5
25	morbid obesity	10.5
26	sleep disorder	10.4
27	neuronitis	10.4
28	diabetes mellitus	10.4
29	hypogonadism	10.4
30	diabetes mellitus, noninsulin-dependent	10.4
31	body mass index quantitative trait locus 1	10.4
32	down syndrome	10.3
33	williams-beuren syndrome	10.3
34	sleep apnea	10.3
35	thyroiditis	10.3
36	growth hormone deficiency	10.3
37	apnea, obstructive sleep	10.3
38	epilepsy	10.3
39	precocious puberty	10.3
40	hypersomnia	10.3
41	fragile x syndrome	10.2
42	alacrima, achalasia, and mental retardation syndrome	10.2
43	cerebritis	10.2
44	pancreatitis	10.2
45	mosaic trisomy 15	10.2
46	arteries, anomalies of	10.1
47	sotos syndrome 1	10.1
48	insulin-like growth factor i	10.1
49	coronary artery anomaly	10.1
50	glomerulonephritis	10.1

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

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Symptoms & Phenotypes for Prader-Willi Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
clinodactyly
syndactyly
small hands (<25th percentile for height age)
narrow hands with straight ulnar border

Neurologic Central Nervous System:
seizures
global developmental delay
poor fine motor coordination
poor gross motor coordination
sleep disturbances
more

Head And Neck Eyes:
strabismus
myopia
hyperopia
upslanting palpebral fissures
almond-shaped eyes

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
hyperinsulinemia
growth hormone deficiency
hypogonadotropic hypogonadism

Genitourinary External Genitalia Male:
scrotal hypoplasia
hypogonadotropic hypogonadism
small penis

Genitourinary External Genitalia Female:
hypoplastic labia minora
hypoplastic clitoris

Head And Neck Mouth:
thin upper lip
small-appearing mouth
down-turned corners of mouth
thick, viscous saliva

Voice:
hypernasal speech
weak or squeaky cry in infancy

Head And Neck Face:
narrow bitemporal diameter

Abdomen Gastrointestinal:
feeding problems in infancy requiring gavage feeds
decreased vomiting

Skin Nails Hair Hair:
blonde to light brown hair
frontal hair upsweep

Skeletal:
osteopenia
osteoporosis

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
dolichocephaly

Growth Weight:
failure to thrive in infancy
onset of obesity from 6 months to 6 years
central obesity

Respiratory:
hypoventilation
hypoxia

Genitourinary Internal Genitalia Female:
amenorrhea
oligomenorrhea

Growth Height:
normal birth length
length deceleration in first few months
mean adult male height, 155 cm
mean adult female height, 147 cm
steady childhood growth
more

Skin Nails Hair Skin:
fair skin
sun sensitivity

Skin Nails Hair:
hypopigmentation

Head And Neck Teeth:
early dental caries

Skeletal Feet:
small feet (<10th percentile for height age)

Clinical features from OMIM:

176270

Human phenotypes related to Prader-Willi Syndrome:

⁵⁹ ³² (show top 50) (show all 92)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obesity ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001513
2	high palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000218
3	intellectual disability ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001249
4	seizures ⁵⁹ ³²	very rare (1%)	Frequent (79-30%)	HP:0001250
5	ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001251
6	muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001252
7	scoliosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002650
8	behavioral abnormality ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000708
9	global developmental delay ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0001263
10	delayed skeletal maturation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002750
11	microcephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000252
12	short stature ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0004322
13	type i diabetes mellitus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100651
14	strabismus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000486
15	short palm ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0004279
16	cryptorchidism ⁵⁹ ³²	very rare (1%)	Frequent (79-30%)	HP:0000028
17	intrauterine growth retardation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001511
18	specific learning disability ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0001328
19	hypogonadotrophic hypogonadism ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0000044
20	glomerulopathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100820
21	telecanthus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000506
22	clinodactyly of the 5th finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004209
23	hypoplasia of the ear cartilage ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100720
24	downslanted palpebral fissures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000494
25	brachydactyly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001156
26	downturned corners of mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002714
27	bilateral single transverse palmar creases ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007598
28	abnormality of dental enamel ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000682
29	hypoplasia of penis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008736
30	abnormal hair pattern ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010720
31	clinodactyly ³²			HP:0030084
32	precocious puberty ³²	very rare (1%)		HP:0000826
33	osteopenia ³²	occasional (7.5%)		HP:0000938
34	kyphosis ³²	frequent (33%)		HP:0002808
35	sleep apnea ³²	frequent (33%)		HP:0010535
36	hip dysplasia ³²	very rare (1%)		HP:0001385
37	recurrent respiratory infections ³²	frequent (33%)		HP:0002205
38	type ii diabetes mellitus ³²	very rare (1%)		HP:0005978
39	carious teeth ³²	occasional (7.5%)		HP:0000670
40	delayed speech and language development ³²	hallmark (90%)		HP:0000750
41	feeding difficulties in infancy ³²			HP:0008872
42	delayed puberty ³²	frequent (33%)		HP:0000823
43	osteoporosis ³²	occasional (7.5%)		HP:0000939
44	decreased muscle mass ³²	frequent (33%)		HP:0003199
45	dolichocephaly ³²			HP:0000268
46	short foot ³²	hallmark (90%)		HP:0001773
47	autism ³²	very rare (1%)		HP:0000717
48	attention deficit hyperactivity disorder ³²	frequent (33%)		HP:0007018
49	primary amenorrhea ³²	very rare (1%)		HP:0000786
50	failure to thrive in infancy ³²	hallmark (90%)		HP:0001531

Sources

Drugs & Therapeutics for Prader-Willi Syndrome

Drugs for Prader-Willi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Liraglutide

Approved

Phase 4,Phase 3

204656-20-2

44147092

Hormone Antagonists