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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

Disease characteristics

Excerpted from the GeneReview: Werner Syndrome
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 GeneReviews]
Authors:
Junko Oshima  |  George M Martin  |  Fuki M Hisama   view full author information

Additional description

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
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
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
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
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
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a disease that thins and weakens the bones. Your bones become fragile and break easily, especially the bones in the hip, spine, and wrist. In the United States, millions of people either already have osteoporosis or are at high risk due to low bone mass. Anyone can develop osteoporosis, but it is more common in older women. Risk factors include. -Getting older . -Being small and thin . -Having a family history of osteoporosis. -Taking certain medicines. -Being a white or Asian woman. -Having low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise, and do not smoke. If needed, medicines can also help. It is also important to try to avoid falling down. Falls are the number one cause of fractures in older adults. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
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
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).

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

Zins K, Frech B, Taubenschuss E, Schneeberger C, Abraham D, Schreiber M
Int J Mol Sci 2015 Dec 10;16(12):29643-53. doi: 10.3390/ijms161226192. PMID: 26690424Free PMC Article
Sasoh M, Tsukitome H, Matsui Y, Furuta M, Kondo M
Retin Cases Brief Rep 2014 Spring;8(2):92-4. doi: 10.1097/ICB.0000000000000011. PMID: 25372317
Oshima J, Hisama FM
Gerontology 2014;60(3):239-46. Epub 2014 Jan 3 doi: 10.1159/000356030. PMID: 24401204Free 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
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

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
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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
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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
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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: 25257404
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

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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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