Disease Profile

Atypical Werner syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Adult

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ICD-10

E34.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Atypical progeroid syndrome

Categories

Congenital and Genetic Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 79474

Definition
An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

Epidemiology
The prevalence is unknown.

Clinical description
Atypical WS shows accelerated aging characterized by short stature, thinning/graying of hair, a ''bird-like'' facial appearance, skin atrophy, lipodystrophy, myopathy along with other age-related disorders such as osteoporosis and atherosclerosis. Compared to WS, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. Cataracts are often not present.

Etiology
A subset of atypical WS is caused by the mutation of the LMNA gene, the same causal gene seen in Hutchinson-Gilford progeria syndrome (HGPS; see this term) that codes for the nuclear intermediate filament, lamin A/C. The LMNA type of atypical WS follows an autosomal dominant pattern of inheritance. Additional causes of atypical WS are being discovered, and their inheritance patterns elucidated.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal hair whorl
Abnormal hair whorls
Abnormal whorl of hair

[ more ]

0010721
Abnormal testis morphology
Abnormality of the testis
0000035
Abnormality of circulating leptin level
0004361
Abnormality of retinal pigmentation
0007703
Abnormality of the Achilles tendon
0005109
Abnormality of the cerebral vasculature
Abnormality of the cerebral blood vessels
0100659
Abnormality of the pulmonary artery
Abnormality of lung artery
0004414
Abnormality of the voice
Voice abnormality
0001608
Alopecia
Hair loss
0001596
Aortic valve calcification
0004380
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Chondrocalcinosis
Calcium deposits in joints
0000934
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

0000444
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
0001677
Decreased fertility
Abnormal fertility
0000144
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fasting hyperinsulinemia
High blood insulin levels while fasting
0008283
Fragile nails
Brittle nails
0001808
Generalized lipodystrophy
0009064
Glycosuria
Glucose in urine
0003076
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hyperglycemia
High blood sugar
0003074
Hyperkeratosis
0000962
Hypertension
0000822
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Hypogonadism
Decreased activity of gonads
0000135
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Lack of skin elasticity
0100679
Laryngomalacia
Softening of voice box tissue
0001601
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Lipoatrophy
Loss of fat tissue in localized area
0100578
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Osteolytic defects of the phalanges of the hand
Breakdown of small bones of fingers
0009771
Osteoporosis
0000939
Osteosarcoma
Bone cell cancer
0002669
Patchy hypoand hyperpigmentation
0007509
Peripheral arterial stenosis
0004950
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Pili torti
Flattened and twisted hair
0003777
Premature arteriosclerosis
0005177
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure

[ more ]

0008209
Progeroid facial appearance
Premature aged appearance
0005328
Progressive clavicular acroosteolysis
0000905
Prominent superficial veins
Prominent veins
0001015
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838
Sclerosis of hand bone
Increased bone density in hand bone
0004054
Secondary amenorrhea
Previous menstrual periods stop
0000869
Short palm
0004279
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Skin ulcer
Open skin sore
0200042
Sparse body hair
0002231
Subcutaneous calcification
Skin calcification
0007618
Telangiectasia of the skin
0100585
Thin skin
0000963
Thin vermilion border
Decreased volume of lip
Thin lips

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Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Atypical Werner syndrome. Click on the link to view a sample search on this topic.