Prader-Willi Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
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Aliases & Descriptions for Prader-Willi Syndrome:
Orphanet epidemiological data:53
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
Penetrance: penetrance is complete...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Reproductive diseases, Endocrine diseases
ICD10: 30 29
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
MedlinePlus:37 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 imprinting mutation and obesity, and has symptoms including hypogonadotrophic hypogonadism, delayed speech and language development and infertility. An important gene associated with Prader-Willi Syndrome is NDN (Necdin, MAGE Family Member), and among its related pathways are Synaptic Neurotransmission Pathways: GABAergic Inhibition and Gastric cancer network 2. Affiliated tissues include skin, brain and testes, and related mouse phenotypes are adipose tissue and behavior/neurological.
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 mellitus (the most common form of diabetes).
OMIM:51 Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation,... (176270) more...
NIH Rare Diseases:47 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. Last updated: 7/7/2016
Wikipedia:70 Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes on... more...
GeneReviews for NBK1330
Human phenotypes related to Prader-Willi Syndrome:63 53 (show all 97)
Drugs for Prader-Willi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 63)
Interventional clinical trials:(show top 50) (show all 62)
Search NIH Clinical Center for Prader-Willi Syndrome
MalaCards organs/tissues related to Prader-Willi Syndrome:35
Skin, Brain, Testes, Bone, Endothelial, Liver, Smooth muscle
Articles related to Prader-Willi Syndrome:(show top 50) (show all 796)
Copy number variations for Prader-Willi Syndrome from CNVD:6 (show all 45)
Search GEO for disease gene expression data for Prader-Willi Syndrome.
Pathways related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Prader-Willi Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet