Details of Disease

General Information of Disease (ID: DISCL3SY)

Disease Name Weill-Marchesani 4 syndrome, recessive
Synonyms Weill-Marchesani-like syndrome; Weill-Marchesani syndrome 4; WMS4; ichthyosis-short stature-brachydactyly-microspherophakia syndrome; 15q26.3 microdeletion syndrome
Disease Hierarchy
DIS9B7CX: Weill-Marchesani syndrome
DISCL3SY: Weill-Marchesani 4 syndrome, recessive
Disease Identifiers
MONDO ID
MONDO_0013176
MESH ID
C567710
UMLS CUI
C2750787
OMIM ID
613195
MedGen ID
416383
Orphanet ID
363992

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAMTS10 OTNJ9VSU Strong Genetic Variation [1]
CERS3 OTKCEPYQ Strong ChromosomalRearrangement [2]
LTBP2 OTS88GSD Strong Genetic Variation [3]
ADAMTS17 OTCFITM9 Definitive Autosomal recessive [4]
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References

1 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.
2 Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6.
3 Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma.Genes (Basel). 2018 Oct 30;9(11):527. doi: 10.3390/genes9110527.
4 Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Mol Vis. 2014 Jun 12;20:790-6. eCollection 2014.