|
|
|
|
|
| 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
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:
| 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 | 20.0 | MDR |
| PT_IN_VERSION | 20.1 | 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 |
| 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 | 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
