Details of Disease

General Information of Disease (ID: DISYDVKR)

• Disease Name: Distal arthrogryposis type 5D
• Synonyms: arthrogryposis, distal, type 5D; ECEL1 distal arthrogryposis; distal arthrogryposis caused by mutation in ECEL1; distal arthrogryposis type 5 without ophthalmoplegia; distal arthrogryposis type 5 without ophthalmoparesis; DA5D
• Definition: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
• Disease Hierarchy:
  DIS3QIEL: Distal arthrogryposis
  DISYDVKR: Distal arthrogryposis type 5D
• Disease Identifiers:
  MONDO ID: MONDO_0014028
  UMLS CUI: C3554415
  OMIM ID: 615065
  MedGen ID: 767329
  Orphanet ID: 329457
  SNOMED CT ID: 773396009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNNI2	OTGGZFSC	moderate	Biomarker	[1]
ECEL1	OTJ6GNUP	Definitive	Autosomal recessive	[2]
FBN2	OT3KYJQL	Definitive	Biomarker	[3]

References

• [1] A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.PLoS Genet. 2014 Oct 23;10(10):e1004589. doi: 10.1371/journal.pgen.1004589. eCollection 2014 Oct.
• [2] Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.
• [3] ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.PLoS One. 2010 Feb 9;5(2):e9137. doi: 10.1371/journal.pone.0009137.