Details of Disease

General Information of Disease (ID: DISBCS1Y)

• Disease Name: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
• Synonyms: Arthogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis, distal, type 2B; DA5; arthrogryposis ophthalmoplegia retinopathy; arthrogryposis, distal, type 5; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; arthrogryposis with oculomotor limitation and electroretinal abnormalities; distal arthrogryposis with ophthalmoplegia; oculomelic amyoplasia; distal arthrogryposis type 5; distal arthrogryposis type IIB; arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
• Definition: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
• Disease Hierarchy:
  DIS3QIEL: Distal arthrogryposis
  DISBCS1Y: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007158
  MESH ID: C537737
  UMLS CUI: C1862472
  OMIM ID: 108145
  MedGen ID: 350678
  Orphanet ID: 1154
  SNOMED CT ID: 715217004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIEZO2	OTQ7AT38	Moderate	Autosomal dominant	[1]
TNNI2	OTGGZFSC	moderate	Biomarker	[2]
ECEL1	OTJ6GNUP	Strong	Genetic Variation	[3]
FBN2	OT3KYJQL	Definitive	Biomarker	[4]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] 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.
• [3] New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis.Neurochem Res. 2019 Jun;44(6):1279-1288. doi: 10.1007/s11064-018-2665-x. Epub 2018 Oct 24.
• [4] 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.