Details of Disease

General Information of Disease (ID: DISJWTN6)

Disease Name Isolated ectopia lentis
Synonyms congenital ectopic lens; ectopia lentis syndrome; IEL; familial ectopia lentis; nonsyndromic lens position anomaly; isolated lens position anomaly
Definition Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Disease Hierarchy
DISF6ADC: Lens disorder
DISJWTN6: Isolated ectopia lentis
Disease Identifiers
MONDO ID
MONDO_0015998
MESH ID
C536184
UMLS CUI
C1851286
MedGen ID
342716
Orphanet ID
1885

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAMTSL4 OTBILJMW Supportive Autosomal dominant [1]
FBN1 OTYCJT63 Supportive Autosomal dominant [1]
ADAMTS17 OTCFITM9 Strong Biomarker [2]
ADAMTSL2 OTAXNV2U Strong Biomarker [2]
LTBP2 OTS88GSD Strong Biomarker [3]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 ADAMTS proteins as modulators of microfibril formation and function.Matrix Biol. 2015 Sep;47:34-43. doi: 10.1016/j.matbio.2015.05.004. Epub 2015 May 7.
3 LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.