Details of Disease

General Information of Disease (ID: DIS8RZZI)

Disease Name Weill-Marchesani syndrome 3
Synonyms WMS3; Weill-Marchesani syndrome type 3; Weill-Marchesani syndrome caused by mutation in LTBP2; LTBP2 Weill-Marchesani syndrome; Weill-Marchesani syndrome 3, recessive; Weill-Marchesani syndrome 3
Definition Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
Disease Hierarchy
DIS9B7CX: Weill-Marchesani syndrome
DISYTG1Z: LTBP2-related ocular dysgenesis
DIS8RZZI: Weill-Marchesani syndrome 3
Disease Identifiers
MONDO ID
MONDO_0013899
UMLS CUI
C3553785
OMIM ID
614819
MedGen ID
766699

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LTBP2 OTS88GSD Moderate Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.