Details of Disease

General Information of Disease (ID: DISIYHFA)

• Disease Name: Severe early-onset axonal neuropathy due to MFN2 deficiency
• Synonyms: autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; AR-CMT2, Ouvrier type; SEOAN due to MFN2 deficiency
• Definition: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
• Disease Hierarchy:
  DISR0X2K: Hereditary motor and sensory neuropathy
  DISIYHFA: Severe early-onset axonal neuropathy due to MFN2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0019549
  UMLS CUI: C4707897
  MedGen ID: 1641956
  Orphanet ID: 90118
  SNOMED CT ID: 766977007

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
MFN2	OTPYN8A3	Supportive	Autosomal recessive	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.