Details of Disease

General Information of Disease (ID: DISMCQP6)

• Disease Name: Arthrogryposis multiplex congenita
• Synonyms: congenital amyoplasia; Gurin-Stern syndrome; fibrous ankylosis of multiple joints; amyoplasia congenita; Otto syndrome; rocher-Sheldon syndrome; Rossi syndrome; myodystrophia fetalis deformans; Guerin-Stern syndrome; arthrogryposis multiplex congenita; multiple congenital arthrogryposis; Arthromyodysplasia congenita; AMC; myodysplasia; congenital arthromyodysplasia
• Definition: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISHEGN6: Arthrogryposis syndrome
  DISMCQP6: Arthrogryposis multiplex congenita
• Disease Identifiers:
  MONDO ID: MONDO_0015168
  MESH ID: D001176
  UMLS CUI: C5779613
  MedGen ID: 1830310
  HPO ID: HP:0002804
  Orphanet ID: 1037
  SNOMED CT ID: 205402004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS8	OT5YPCLI	Limited	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.