Details of Disease

General Information of Disease (ID: DISQUJI6)

• Disease Name: Weill-Marchesani syndrome 2, dominant
• Synonyms: spherophakia-brachymorphia syndrome; mesodermal Dysmorphodystrophy, congenital; glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome; Weill-Marchesani syndrome 2; glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome; Weill-Marchesani syndrome type 2; GEMSS syndrome; Weill-Marchesani syndrome, autosomal dominant; GEMSS; WMS2
• Definition: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.
• Disease Hierarchy:
  DIS9B7CX: Weill-Marchesani syndrome
  DISQUJI6: Weill-Marchesani syndrome 2, dominant
• Disease Identifiers:
  MONDO ID: MONDO_0012013
  MESH ID: D056846
  UMLS CUI: C1869115
  OMIM ID: 608328
  MedGen ID: 358388
  Orphanet ID: 2084

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBN1	OTYCJT63	Strong	Autosomal dominant	[1]
ADAMTS10	OTNJ9VSU	Definitive	Biomarker	[2]

References

• [1] In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34.
• [2] ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.Hum Mol Genet. 2018 Nov 1;27(21):3675-3687. doi: 10.1093/hmg/ddy276.