ORPHA:79474
Atypical Werner syndrome
Synonyms: Atypical progeroid syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Adolescent, Adult
- Status
- active
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry <i>WRN</i> gene mutations. Similar to classical WS caused by <i>WRN</i> mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical Werner syndrome | Atypical progeroid syndrome |
| fr | Syndrome de Werner atypique | Progéria atypique · Syndrome progéroïde atypique |
| de | Werner-Syndrom, atypisches | Progeroid-Syndrom, atypisches |
| es | Síndrome de Werner atípico | Síndrome progeroide atípico |
| it | Sindrome di Werner atipica | Sindrome progeroide atipica |
| nl | Atypisch syndroom van Werner | Atypisch progeroïd syndroom |
| pt | Síndrome de Werner atípico | |
| pl | Atypowy zespół Wernera | Atypowy zespół progeroidalny |
| cs | Atypický Wernerův syndrom | Atypický progeroidní syndrom |
| uk | Атиповий синдром Вернера | Атиповий прогероїдний синдром |
| zh | 非典型Werner综合征 | 非典型性类早衰综合征 |
| tr | Atipik Werner sendromu | Atipik progeroid sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0019321 | E | validated | |
| UMLS | C4275075 | E | validated | |
| GARD | 11910 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:300766Laminopathy with premature aging
rare genetic diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:156156Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 12927431[PMID]_19270485[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
90 annotations · validated 2015-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0010721 | Abnormal hair whorl | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0004361 | Abnormality of circulating leptin level | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0001595 | Abnormality of the hair | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001596 | Alopecia | |
| HP:0004380 | Aortic valve calcification | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0004325 | Decreased body weight | |
| HP:0000144 | Decreased fertility | |
| HP:0000823 | Delayed puberty | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001508 | Failure to thrive | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0001808 | Fragile nails | |
| HP:0009064 | Generalized lipodystrophy | |
| HP:0003076 | Glycosuria | |
| HP:0001397 | Hepatic steatosis | |
| HP:0003074 | Hyperglycemia | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000822 | Hypertension | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000135 | Hypogonadism | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0001601 | Laryngomalacia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0100578 | Lipoatrophy | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | |
| HP:0000939 | Osteoporosis | |
| HP:0002669 | Osteosarcoma | |
| HP:0007509 | Patchy hypo- and hyperpigmentation | |
| HP:0004950 | Peripheral arterial stenosis | |
| HP:0001763 | Pes planus | |
| HP:0003777 | Pili torti | |
| HP:0005177 | Premature arteriosclerosis | |
| HP:0002216 | Premature graying of hair | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0000905 | Progressive clavicular acroosteolysis | |
| HP:0001015 | Prominent superficial veins | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001838 | Rocker bottom foot | |
| HP:0004054 | Sclerosis of hand bone | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200042 | Skin ulcer | |
| HP:0002231 | Sparse body hair | |
| HP:0007618 | Subcutaneous calcification | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000963 | Thin skin | |
| HP:0000233 | Thin vermilion border | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0002211 | White forelock | |
| Frequent (79-30%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0008419 | Intervertebral disc degeneration | |
| HP:0002858 | Meningioma | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100649 | Neoplasm of the oral cavity | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0100833 | Neoplasm of the small intestine | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0009726 | Renal neoplasm | |
| HP:0000546 | Retinal degeneration | |
| Occasional (29-5%) | ||
| HP:0000519 | Developmental cataract | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0040019 | Finger clinodactyly | |
| HP:0001385 | Hip dysplasia | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001634 | Mitral valve prolapse | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17711925[PMID]_23849162[PMID]_24384368[PMID]_15773753[PMID]_12629077[PMID]_14615128[PMID]_19875478[PMID]_12927431[PMID]_12927424[PMID]_22817610[PMID]_25649378[PMID]_15060110[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79474
- This record as JSON: /data/d/79474.json