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Details
Link-It Detail - Disease - Prader-Willi Syndrome
Debug Stats
  • ### Total Build Time: 745 ms 61.230 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1,017 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 1.820 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=17 ms Completed: 17 ms rowSize= 11.924 KB
  • CONCEPT_RELATIONSHIPS gt=531 ms Completed: 531 ms rowSize= 14.399 KB
  • CONCEPT_GENES gt=64 ms Completed: 64 ms rowSize= 30.330 KB
  • CONCEPT_XREFS gt=99 ms Completed: 99 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Prader-Willi Syndrome C0032897
Definition (1)

Prader-Willi Syndrome (PWS) is an uncommon 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 mental retardation and learning disabilities

There is no cure for PWS. Growth hormone and exercise can help build muscle mass and control weight.

NIH: National Institute of Child Health and Human Development

Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (4)
img Chromosome Disorders C0008626
img Intellectual Disability C0025362
img Obesity C0028754
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Chromosome Disorders C0008626
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250404img Intellectual Disability C0025362
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Intellectual Disability C0025362
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Intellectual Disability C0025362
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250414img Intellectual Disability C0025362
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Obesity C0028754
img Nutritional and Metabolic Diseases C0028715img Nutrition Disorders C00287095img Obesity C0028754
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (188)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 73
diso_​to_​diso : 99
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 7


Relationships:
none : 37
classifies : 2
inheritance_​type_​of : 1
manifestation_​of : 76
mapped_​to : 1
may_​treat : 66
permuted_​term_​of : 1
related_​to : 4
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN196img genetic aspects C0017399
DISO_to_PHEN162img genetic aspects C0017399
DISO_to_DISO102img Complication Aspects C1171258
DISO_to_DISO81img Complication Aspects C1171258
DISO_to_CHEM51img Human Growth Hormone C0169964
DISO_to_ANAT42img In Blood C0005768
DISO_to_DISO41img Angelman Syndrome C0162635
DISO_to_ANAT40img 15 chromosome C0008657
DISO_to_ANAT38img 15 chromosome C0008657
DISO_to_DISO35img Angelman Syndrome C0162635
DISO_to_DISO35img Obesity C0028754
DISO_to_PHYS34img Genomic Imprinting C0242614
DISO_to_CHEM30img Human Growth Hormone C0169964
DISO_to_ANAT23img In Blood C0005768
DISO_to_DISO21img Chromosome Deletion C0008628
DISO_to_DISO20img Disomies, Uniparental C0949628
DISO_to_DISO20img Obesity C0028754
DISO_to_CHEM18img Peptide Hormones C0597192
DISO_to_CHEM18img peptide hormone C0597192
DISO_to_PHYS18img Genomic Imprinting C0242614
DISO_to_CHEM14img Growth Hormone C0037663
DISO_to_PHYS14img DNA Methylation C0376452
DISO_to_DISO13img Sleep Apnea, Obstructive C0520679
DISO_to_PHYS13img Body Composition C0005885
DISO_to_CHEM12img Growth Hormone C0037663
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanSNORD115-1338433
img GENERIF, Score=1000, Pubmed Id: 15565282, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 16357227, UMLKSK CUI: C0032897
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
img GENERIF, Score=1000, Pubmed Id: 14508708, UMLKSK CUI: C0032897
img OMIM, Score=1000, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 16982806, UMLKSK CUI: C0032897
HumanTUBGCP5114791tubulin, gamma complex associated protein 5
img GENERIF, Score=1000, Pubmed Id: 16982806, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 14508708, UMLKSK CUI: C0032897
HumanNIPA281614non imprinted in Prader-Willi/Angelman syndrome 2
img GENERIF, Score=1000, Pubmed Id: 16982806, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 14508708, UMLKSK CUI: C0032897
HumanGHRL51738ghrelin/obestatin prepropeptide
img GENERIF, Score=1000, Pubmed Id: 15192277, UMLKSK CUI: C0032897
img GENERIF, Score=756, Pubmed Id: 15292322, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 15956087, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 12091883, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 15657368, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 12519848, UMLKSK CUI: C0032897
img GENERIF, Score=756, Pubmed Id: 15070936, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 17449920, UMLKSK CUI: C0032897
HumanCYFIP123191cytoplasmic FMR1 interacting protein 1
img GENERIF, Score=1000, Pubmed Id: 16982806, UMLKSK CUI: C0032897
img GENERIF, Score=1000, Pubmed Id: 14508708, UMLKSK CUI: C0032897
HumanADIPOQ9370adiponectin, C1Q and collagen domain containing
img GENERIF, Score=679, Pubmed Id: 15476445, UMLKSK CUI: C0032897
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=1000, Pubmed Id: 18922344, UMLKSK CUI: C0032897
HumanTSPY17258testis specific protein, Y-linked 1
img GENERIF, Score=1000, Pubmed Id: 14981720, UMLKSK CUI: C0032897
HumanSNRPN6638small nuclear ribonucleoprotein polypeptide N
img GENERIF, Score=1000, Pubmed Id: 17262171, UMLKSK CUI: C0032897
HumanSIM16492single-minded homolog 1 (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 12161602, UMLKSK CUI: C0032897
HumanOCA24948oculocutaneous albinism II
img GAD, Score=1000, Pubmed Id: 7761348, UMLKSK CUI: C0032897
HumanNDN4692necdin, melanoma antigen (MAGE) family member
img GENERIF, Score=734, Pubmed Id: 18272695, UMLKSK CUI: C0032897
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img GENERIF, Score=660, Pubmed Id: 15757975, UMLKSK CUI: C0032897
HumanLEPR3953leptin receptor
img GENERIF, Score=1000, Pubmed Id: 17618952, UMLKSK CUI: C0032897
HumanLEP3952leptin
img GENERIF, Score=1000, Pubmed Id: 17618952, UMLKSK CUI: C0032897
HumanKDR3791kinase insert domain receptor (a type III receptor tyrosine kinase)
img GENERIF, Score=1000, Pubmed Id: 18922344, UMLKSK CUI: C0032897
HumanHCRT3060hypocretin (orexin) neuropeptide precursor
img GENERIF, Score=1000, Pubmed Id: 15985489, UMLKSK CUI: C0032897
HumanACADS35acyl-CoA dehydrogenase, C-2 to C-3 short chain
img GENERIF, Score=756, Pubmed Id: 18184946, UMLKSK CUI: C0032897
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0032897Prader-Willi Syndrome0self