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Prader-Willi Syndrome (CUI C0032897) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0032897

NCI Thesaurus Code: C75463  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.

GARD Definition: 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. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

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

NICHD Definition: A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues.

MSH Definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

CSP Definition: congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15.

Synonyms & Abbreviations: (see Synonym Details)
Labhart Willi Prader Fanconi Syndrome
Labhart Willi Syndrome
Labhart-Willi Syndrome
Labhart-Willi-Prader-Fanconi Syndrome
OBESITY-CRYPTORCHIDISM-DWARFISM-SUBNORMAL MENTALITY SYNDROME
Prader Labhart Willi Syndrome
Prader Willi syndrome
Prader-Labhart-Willi syndrome
Prader-Willi syndrome (disorder)
Prader-Willi Syndrome [Disease/Finding]
PRADER-WILLI SYNDROME
Prader-Willi-Labhart Syndrome
PWS
Syndrome, Labhart-Willi-Prader-Fanconi
Syndrome, Labhart-Willi
Syndrome, Prader-Labhart-Willi
Syndrome, Prader-Willi
Syndrome, Willi-Prader
Willi Prader Syndrome
Willi-Prader syndrome

External Source Codes: 
NCI Thesaurus Code C75463 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PKy93 SNOMEDCT_US
DATE_CREATED 11/17/2000 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2015-01-07T00:01:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-7731 CSP
DISEASE_IDENTIFIER_ID 16587 GARD
DISEASE_IDENTIFIER_ID 16588 GARD
DISEASE_IDENTIFIER_ID 16589 GARD
DX 19770101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D008607 MSH
GENELOCUS ,1,5,q,1,1,-,q,1,3, OMIM
GENESYMBOL NDN OMIM
HAS_GARD_PAGE true GARD
HN 1977 MSH
IDENTIFIER_SOURCE OMI GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-10-14T00:00:00 GARD
MDA 19760413 MSH
MESH_DEFINITION An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) NDFRT
MESH_DUI D011218 NDFRT
MESH_NAME Prader-Willi Syndrome NDFRT
MESH_UI M0017431 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.597.606.643.690 MSH
MN C16.131.077.730 MSH
MN C16.131.260.700 MSH
MN C16.320.180.700 MSH
MN C18.654.726.500.740 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/praderwillisyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Prader-Willi Syndrome NCI
NUI N0000002472 NDFRT
PM 1977 MSH
PRIMARY_PATH 10036476$10029300$10029299$10010331$Prader-Willi syndrome$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5575/prader-willi-syndrome/resources/1 GARD
RXAUI 3187969 RXNORM
RXAUI 3187970 RXNORM
RXAUI 3223121 RXNORM
RXAUI 3223122 RXNORM
RXAUI 3288434 RXNORM
RXAUI 3288939 RXNORM
RXAUI 5039847 RXNORM
RXCUI 1022423 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 89392001 NDFRT
SNOMEDID D4-00615 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q87.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q87.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PKy93 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00615 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T033046 MSH
TERMUI T369645 MSH
TERMUI T369646 MSH
TERMUI T752513 MSH
TERMUI T752514 MSH
TERMUI T811831 MSH
TH GHR (2014) MSH
TH NLM (1977) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0032897

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