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Severe early-onset axonal neuropathy due to MFN2 deficiency

MedGen UID:
1641956
Concept ID:
C4707897
Disease or Syndrome
Synonyms: AR-CMT2, Ouvrier type; Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type; Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; SEOAN due to MFN2 deficiency; Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency; severe early-onset axonal neuropathy due to MFN2 deficiency; Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
SNOMED CT: Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency (766977007); Severe early-onset axonal neuropathy due to MFN2 deficiency (766977007); Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type (766977007); Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (766977007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0019549
Orphanet: ORPHA90118

Definition

A rare axonal hereditary motor and sensory neuropathy with early onset (less than 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Severe early-onset axonal neuropathy due to MFN2 deficiency

Recent clinical studies

Etiology

Magri S, Danti FR, Balistreri F, Baratta S, Ciano C, Pagliano E, Taroni F, Moroni I
J Peripher Nerv Syst 2020 Dec;25(4):429-432. Epub 2020 Sep 4 doi: 10.1111/jns.12410. PMID: 32815244

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