Details of Disease

General Information of Disease (ID: DIS0ER12)

• Disease Name: Spinal muscular atrophy with respiratory distress type 2
• Synonyms: X-linked spinal muscular atrophy with respiratory distress; diaphragmatic spinal muscular atrophy type 2; SMARD2; severe infantile axonal neuropathy with respiratory failure type 2
• Definition: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
• Disease Hierarchy:
  DISTLKOB: Spinal muscular atrophy
  DIS6XNI0: Hereditary motor neuron disease
  DIS0ER12: Spinal muscular atrophy with respiratory distress type 2
• Disease Identifiers:
  MONDO ID: MONDO_0018450
  UMLS CUI: C4749434
  MedGen ID: 1658540
  Orphanet ID: 404521
  SNOMED CT ID: 770727008

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
LAS1L	OTG4I2A1	Supportive	Unknown	[1]

References

• [1] Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.