Details of Disease

General Information of Disease (ID: DIS9SLU2)

Disease Name Atypical Werner syndrome
Synonyms atypical progeroid syndrome
Definition
A 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.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISFPEQA: Laminopathy
DIS9SLU2: Atypical Werner syndrome
Disease Identifiers
MONDO ID
MONDO_0019321
UMLS CUI
C4275075
MedGen ID
894770
Orphanet ID
79474
SNOMED CT ID
715633008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WRN TT2H5WQ Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNA OT3SG7ZR Supportive Autosomal dominant [2]
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References

1 Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.Stroke. 2009 Feb;40(2):e11-4. doi: 10.1161/STROKEAHA.108.531780. Epub 2008 Dec 18.
2 LMNA mutations in atypical Werner's syndrome. Lancet. 2003 Aug 9;362(9382):440-5. doi: 10.1016/S0140-6736(03)14069-X.