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Werner syndrome(WRN)

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Synonyms: Werner's syndrome; WRN
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Pangeria (51626007); Adult progeria (51626007); Adult premature aging syndrome (51626007); Werner syndrome (51626007); Progeria of the adult (51626007)
 
Gene (location): WRN (8p12)
OMIM®: 277700
Orphanet: ORPHA902

Definition

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GTR]

Additional descriptions

From GeneReviews
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.  https://www.ncbi.nlm.nih.gov/books/NBK1514
From GHR
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.  https://ghr.nlm.nih.gov/condition/werner-syndrome

Clinical features

Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Premature arteriosclerosis
MedGen UID:
376368
Concept ID:
C1848486
Disease or Syndrome
Arteriosclerosis occuring at an age that is younger than usual.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Subcutaneous calcification
MedGen UID:
120484
Concept ID:
C0263625
Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Subcutaneous calcification
MedGen UID:
120484
Concept ID:
C0263625
Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Progeroid facial appearance
MedGen UID:
341830
Concept ID:
C1857710
Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Werner syndrome in Orphanet.

Professional guidelines

PubMed

Hisama FM, Kubisch C, Martin GM, Oshima J
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 18 doi: 10.1038/ejhg.2011.265. PMID: 22258520Free PMC Article

Recent clinical studies

Etiology

Yamaga M, Takemoto M, Takada-Watanabe A, Koizumi N, Kitamoto T, Sakamoto K, Ishikawa T, Koshizaka M, Maezawa Y, Yokote K
J Am Geriatr Soc 2017 Aug;65(8):1853-1856. Epub 2017 Apr 10 doi: 10.1111/jgs.14906. PMID: 28394436
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Oshima J, Hisama FM
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Goutzanis L, Kalfarentzos EF, Petsinis V, Papadogeorgakis N
J Craniomaxillofac Surg 2013 Oct;41(7):e170-4. Epub 2013 Jan 26 doi: 10.1016/j.jcms.2012.11.045. PMID: 23357132
Takada-Watanabe A, Yokote K, Takemoto M, Fujimoto M, Irisuna H, Honjo S, Futami K, Furuichi Y, Saito Y
Geriatr Gerontol Int 2012 Jan;12(1):140-6. doi: 10.1111/j.1447-0594.2011.00743.x. PMID: 22188495

Diagnosis

Yamaga M, Takemoto M, Takada-Watanabe A, Koizumi N, Kitamoto T, Sakamoto K, Ishikawa T, Koshizaka M, Maezawa Y, Yokote K
J Am Geriatr Soc 2017 Aug;65(8):1853-1856. Epub 2017 Apr 10 doi: 10.1111/jgs.14906. PMID: 28394436
Oshima J, Sidorova JM, Monnat RJ Jr
Ageing Res Rev 2017 Jan;33:105-114. Epub 2016 Mar 15 doi: 10.1016/j.arr.2016.03.002. PMID: 26993153Free PMC Article
Sadahira Y, Sugihara T, Fujiwara H, Nishimura H, Suetsugu Y, Takeshita M, Okamura S, Goto M
Virchows Arch 2015 Mar;466(3):343-50. Epub 2014 Dec 12 doi: 10.1007/s00428-014-1703-6. PMID: 25503078
Oshitari T, Kitahashi M, Mizuno S, Baba T, Kubota-Taniai M, Takemoto M, Yokote K, Yamamoto S, Roy S
BMC Ophthalmol 2014 Mar 12;14:31. doi: 10.1186/1471-2415-14-31. PMID: 24620826Free PMC Article
Donadille B, D'Anella P, Auclair M, Uhrhammer N, Sorel M, Grigorescu R, Ouzounian S, Cambonie G, Boulot P, Laforêt P, Carbonne B, Christin-Maitre S, Bignon YJ, Vigouroux C
Orphanet J Rare Dis 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106. PMID: 23849162Free PMC Article

Therapy

Oshitari T, Kitahashi M, Mizuno S, Baba T, Kubota-Taniai M, Takemoto M, Yokote K, Yamamoto S, Roy S
BMC Ophthalmol 2014 Mar 12;14:31. doi: 10.1186/1471-2415-14-31. PMID: 24620826Free PMC Article
Bird JL, Jennert-Burston KC, Bachler MA, Mason PA, Lowe JE, Heo SJ, Campisi J, Faragher RG, Cox LS
Biogerontology 2012 Feb;13(1):49-62. Epub 2011 Jul 24 doi: 10.1007/s10522-011-9341-8. PMID: 21786128
Bagley MC, Davis T, Dix MC, Fusillo V, Pigeaux M, Rokicki MJ, Kipling D
Future Med Chem 2010 Sep;2(9):1417-27. doi: 10.4155/fmc.10.217. PMID: 21426137
Massip L, Garand C, Paquet ER, Cogger VC, O'Reilly JN, Tworek L, Hatherell A, Taylor CG, Thorin E, Zahradka P, Le Couteur DG, Lebel M
FASEB J 2010 Jan;24(1):158-72. Epub 2009 Sep 9 doi: 10.1096/fj.09-137133. PMID: 19741171Free PMC Article
Davis T, Kipling D
Rejuvenation Res 2006 Fall;9(3):402-7. doi: 10.1089/rej.2006.9.402. PMID: 16859481

Prognosis

Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr
PLoS One 2013;8(4):e59709. Epub 2013 Apr 1 doi: 10.1371/journal.pone.0059709. PMID: 23573208Free PMC Article
Goutzanis L, Kalfarentzos EF, Petsinis V, Papadogeorgakis N
J Craniomaxillofac Surg 2013 Oct;41(7):e170-4. Epub 2013 Jan 26 doi: 10.1016/j.jcms.2012.11.045. PMID: 23357132
Takemoto M, Mori S, Kuzuya M, Yoshimoto S, Shimamoto A, Igarashi M, Tanaka Y, Miki T, Yokote K
Geriatr Gerontol Int 2013 Apr;13(2):475-81. Epub 2012 Jul 23 doi: 10.1111/j.1447-0594.2012.00913.x. PMID: 22817610
Takada-Watanabe A, Yokote K, Takemoto M, Fujimoto M, Irisuna H, Honjo S, Futami K, Furuichi Y, Saito Y
Geriatr Gerontol Int 2012 Jan;12(1):140-6. doi: 10.1111/j.1447-0594.2011.00743.x. PMID: 22188495
Tsurubuchi T, Yamamoto T, Tsukada Y, Matsuda M, Nakai K, Matsumura A
Neurol Med Chir (Tokyo) 2008 Oct;48(10):470-3. PMID: 18948683

Clinical prediction guides

Ketkar A, Voehler M, Mukiza T, Eoff RL
J Biol Chem 2017 Feb 24;292(8):3154-3163. Epub 2017 Jan 9 doi: 10.1074/jbc.M116.767699. PMID: 28069813Free PMC Article
Sadahira Y, Sugihara T, Fujiwara H, Nishimura H, Suetsugu Y, Takeshita M, Okamura S, Goto M
Virchows Arch 2015 Mar;466(3):343-50. Epub 2014 Dec 12 doi: 10.1007/s00428-014-1703-6. PMID: 25503078
Motegi S, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O
J Dermatol 2014 Dec;41(12):1047-52. Epub 2014 Oct 20 doi: 10.1111/1346-8138.12657. PMID: 25327215
Maity J, Bohr VA, Laskar A, Karmakar P
Biochim Biophys Acta 2014 Dec;1842(12 Pt A):2387-94. Epub 2014 Sep 23 doi: 10.1016/j.bbadis.2014.09.007. PMID: 25257404Free PMC Article
Donadille B, D'Anella P, Auclair M, Uhrhammer N, Sorel M, Grigorescu R, Ouzounian S, Cambonie G, Boulot P, Laforêt P, Carbonne B, Christin-Maitre S, Bignon YJ, Vigouroux C
Orphanet J Rare Dis 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106. PMID: 23849162Free PMC Article

Recent systematic reviews

Wang B, Li G, Sun F, Dong N, Sun Z, Jiang D
Technol Cancer Res Treat 2016 Feb;15(1):20-7. Epub 2014 Dec 2 doi: 10.1177/1533034614561359. PMID: 25468760
Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr
PLoS One 2013;8(4):e59709. Epub 2013 Apr 1 doi: 10.1371/journal.pone.0059709. PMID: 23573208Free PMC Article
Cesari M, Pahor M, Incalzi RA
Cardiovasc Ther 2010 Oct;28(5):e72-91. Epub 2010 Jul 7 doi: 10.1111/j.1755-5922.2010.00171.x. PMID: 20626406Free PMC Article
Pallardó FV, Lloret A, Lebel M, d'Ischia M, Cogger VC, Le Couteur DG, Gadaleta MN, Castello G, Pagano G
Biogerontology 2010 Aug;11(4):401-19. Epub 2010 Mar 18 doi: 10.1007/s10522-010-9269-4. PMID: 20237955
Butler RN, Warner HR, Williams TF, Austad SN, Brody JA, Campisi J, Cerami A, Cohen G, Cristofalo VJ, Drachman DA, Finch CE, Fridovich I, Harley CB, Havlik RJ, Martin GM, Miller RA, Olshansky SJ, Pereira-Smith OM, Smith JR, Sprott RL, West MD, Wilmoth JR, Wright WE
Aging Clin Exp Res 2004 Apr;16(2):104-11; discussion 111-2. PMID: 15195984

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