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Werner Syndrome (CUI C0043119) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0043119

NCI Thesaurus Code: C3447  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer.

GARD Definition: Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: An inherited disorder marked by rapid aging that begins in early adolescence. Patients may be shorter than average, and have health problems such as loss and graying of hair, hardening of the arteries, thinning of the bones, diabetes, and thin, hardened skin. They also have an increased risk of cancer, especially osteosarcoma (a type of bone cancer). Adult progeria is caused by a mutation (change) in a gene involved in cell division. It is a type of autosomal recessive gene disease.

CSP Definition: autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcifications, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.

MSH Definition: An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.

Synonyms & Abbreviations: (see Synonym Details)
Adult premature ageing syndrome
Adult Premature Aging Syndrome
adult progeria
Pangeria
Progeria of the adult
Progeria, Adult
PROGERIA, OF ADULT
Syndrome, Werner's
Syndrome, Werners
Syndrome, Werner
Werner syndrome (disorder)
Werner Syndrome [Disease/Finding]
WERNER SYNDROME
Werner's syndrome
Werners Syndrome
WRN
WS

External Source Codes: 
NCI Thesaurus Code C3447 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN 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
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID C1zy4 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_FIRST_PUBLISHED 2009-09-09 PDQ
DATE_LAST_MODIFIED 2010-02-10 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-9804 CSP
DISEASE_IDENTIFIER_ID 34417 GARD
DISEASE_IDENTIFIER_ID 34418 GARD
DISEASE_IDENTIFIER_ID 6366 GARD
DISEASE_IDENTIFIER_ID 6367 GARD
DX 19670101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,8,p,1,2,-,p,1,1,.,2, OMIM
GENESYMBOL RECQ3 OMIM
GENESYMBOL RECQL2 OMIM
GENESYMBOL WRN OMIM
HAS_GARD_PAGE true GARD
HN 98; was WERNER'S SYNDROME 1964-97 (Prov 1964-67) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. NDFRT
MESH_DUI D014898 NDFRT
MESH_NAME Werner Syndrome NDFRT
MESH_UI M0022920 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.925 MSH
MN C18.452.284.960 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C3447 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003159 NDFRT
ORIG_STY Genetic condition PDQ
PM 98; was WERNER'S SYNDROME 1967-97 MSH
PRIMARY_PATH 10049429$10003842$10008804$10010331$Werner's syndrome$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$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/7885/werners-syndrome/resources/1 GARD
RXAUI 3223862 RXNORM
RXAUI 3256394 RXNORM
RXAUI 3256395 RXNORM
RXAUI 3256396 RXNORM
RXAUI 5930148 RXNORM
RXAUI 5930149 RXNORM
RXAUI 5932446 RXNORM
RXCUI 1023089 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 51626007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E34.8 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~E34.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E34.8 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~E34.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C1zy4 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T043485 MSH
TERMUI T043486 MSH
TERMUI T043487 MSH
TERMUI T842685 MSH
TERMUI T842686 MSH
TERMUI T842687 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (1998) MSH
TH OMIM (2013) MSH
TH UNK (19XX) 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=C0043119

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