ORPHA:902
Werner syndrome
Synonyms: Adult progeria · WS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Werner syndrome | Adult progeria · WS |
| fr | Syndrome de Werner | Progéria de l'adulte · WS |
| de | Werner-Syndrom | Progerie, adulte |
| es | Síndrome de Werner | Progeria adulta · SW |
| it | Sindrome di Werner | Progeria dell'adulto · WS |
| nl | Syndroom van Werner | Adulte progeria · WS |
| pt | Síndrome Werner | |
| pl | Zespół Wernera | Progeria dorosłych · WS |
| cs | Wernerův syndrom | Adultní progérie · WS |
| uk | Синдром Вернера | Прогерія у дорослих · WS |
| zh | Werner综合征 | 成人早衰 |
| tr | Werner sendromu | WS · Erişkin progeria |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277700 | E | validated | |
| ICD-10 | E34.8 | NTBT | index | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0010196 | E | validated | |
| MeSH | D014898 | E | validated | |
| UMLS | C0043119 | E | validated | |
| GARD | 7885 | E | validated | |
| MedDRA | 10049429 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:222628Hereditary poikiloderma
rare genetic diseases; rare skin diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WRN | Disease-causing germline mutation(s) in | Assessed | HGNC:12791 | ENSG00000165392 | 604611 | 8p12 | WRN RecQ like helicase | 20301687[PMID]_16673358[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | United States | Value and class | Validated | 10484259[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Japan | Value and class | Validated | 10347997[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Specific population | Value and class | Validated | 17478382[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
59 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010721 | Abnormal hair whorl | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000518 | Cataract | Diagnostic criterion |
| HP:0000444 | Convex nasal ridge | |
| HP:0000135 | Hypogonadism | |
| HP:0100578 | Lipoatrophy | |
| HP:0000939 | Osteoporosis | |
| HP:0003777 | Pili torti | |
| HP:0002216 | Premature graying of hair | Diagnostic criterion |
| HP:0007495 | Prematurely aged appearance | |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0001533 | Slender build | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002211 | White forelock | |
| Frequent (79-30%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0010468 | Aplasia/Hypoplasia of the testes | |
| HP:0002621 | Atherosclerosis | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0000144 | Decreased fertility | |
| HP:0000962 | Hyperkeratosis | Diagnostic criterion |
| HP:0011001 | Increased bone mineral density | |
| HP:0000855 | Insulin resistance | |
| HP:0100679 | Lack of skin elasticity | Diagnostic criterion |
| HP:0009125 | Lipodystrophy | Diagnostic criterion |
| HP:0001658 | Myocardial infarction | |
| HP:0000275 | Narrow face | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001838 | Rocker bottom foot | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200042 | Skin ulcer | Diagnostic criterion |
| HP:0200055 | Small hand | |
| HP:0007618 | Subcutaneous calcification | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0012060 | Acral lentiginous melanoma | |
| HP:0003002 | Breast carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0002672 | Gastrointestinal carcinoma | |
| HP:0000822 | Hypertension | |
| HP:0001387 | Joint stiffness | |
| HP:0001601 | Laryngomalacia | |
| HP:0002861 | Melanoma | |
| HP:0002858 | Meningioma | |
| HP:0002664 | Neoplasm | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100649 | Neoplasm of the oral cavity | |
| HP:0100833 | Neoplasm of the small intestine | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0009726 | Renal neoplasm | |
| HP:0100242 | Sarcoma | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0005268 | Spontaneous abortion | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0002890 | Thyroid carcinoma | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/902
- This record as JSON: /data/d/902.json