Details of Disease | DrugMAP

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.