Details of Disease | DrugMAP

General Information of Disease (ID: DIS9B7CX)

Disease Name	Weill-Marchesani syndrome
Synonyms	WMS; mesodermal dysmorphodystrophy congenital; WM syndrome; spherophakia-brachymorphia syndrome; Weill Marchesani Syndrome; congenital mesodermal dystrophy; Marchesani-Weill syndrome; spherophakia brachymorphia syndrome; mesodermal Dysmorphodystrophy, congenital
Definition	Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISMZUIT: Acromelic dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISNSX3G: Autosomal genetic disease DIS9B7CX: Weill-Marchesani syndrome
Disease Identifiers	MONDO ID MONDO_0018096 MESH ID D056846 UMLS CUI C0265313 MedGen ID 82705 Orphanet ID 3449 SNOMED CT ID 2884008

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	Supportive	Autosomal dominant	[1]
FBN1	OTYCJT63	Supportive	Autosomal dominant	[1]
LTBP2	OTS88GSD	Supportive	Autosomal dominant	[1]
ADAMTS17	OTCFITM9	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

References

1	Weill-Marchesani Syndrome. 2007 Nov 1 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.J Hum Genet. 2019 Jul;64(7):681-687. doi: 10.1038/s10038-019-0608-2. Epub 2019 Apr 25.