Details of Disease

General Information of Disease (ID: DIS7MT3R)

• Disease Name: Lethal congenital contracture syndrome 1
• Synonyms: Lccs; lethal autosomal recessive syndrome of multiple congenital contractures; lethal congenital contracture syndrome type 1; lethal congenital contracture syndrome caused by mutation in GLE1; multiple contracture syndrome, Finnish type; LCCS1; lethal congenital contracture syndrome 1; GLE1 lethal congenital contracture syndrome; Herva disease
• Definition: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS489GT: Lethal congenital contracture syndrome
  DISH7BRI: Thoracic malformation
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS7MT3R: Lethal congenital contracture syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0009670
  MESH ID: C537194
  UMLS CUI: C1854664
  OMIM ID: 253310
  MedGen ID: 344338
  Orphanet ID: 1486
  SNOMED CT ID: 715418007

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
GLE1	OT0K44H1	Strong	Autosomal recessive	[1]

References

• [1] Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. Epub 2008 Jan 20.