Details of Disease

General Information of Disease (ID: DISXLR5C)

Disease Name Charcot-Marie-Tooth disease type 2B5
Synonyms
severe early-onset axonal neuropathy due to NEFL deficiency; AR-CMT2B5; Charcot-Marie-Tooth disease type 2B5; severe early-onset axonal neuropathy due to light neurofilament subunit deficiency; SEOAN due to NEFL deficiency; autosomal recessive Charcot-Marie-Tooth disease type 2B5
Definition
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Disease Hierarchy
DISR30O9: Charcot-Marie-Tooth disease type 2
DISXLR5C: Charcot-Marie-Tooth disease type 2B5
Disease Identifiers
MONDO ID
MONDO_0016454
UMLS CUI
C4749824
MedGen ID
1668955
Orphanet ID
228374
SNOMED CT ID
771307003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEFL OTQESJV4 Supportive Autosomal recessive [1]
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References

1 A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009 Dec;66(6):759-70. doi: 10.1002/ana.21728.