Details of Disease

General Information of Disease (ID: DIS8WD1Q)

Disease Name Charcot-Marie-Tooth disease type 2A2
Synonyms
HMSN IIa2; Charcot-Marie-Tooth disease, neuronal, type 2A2; Charcot-Marie-Tooth disease, axonal, type 2A2; Charcot-Marie-Tooth neuropathy, type 2A2; CMT2A2A; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A; autosomal dominant Charcot-Marie-Tooth disease type 2A2; hereditary motor and sensory neuropathy IIa2; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2; Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2; Charcot-Marie-Tooth disease, axonal, type 2A2A; HMSN2A2; Charcot-Marie-Tooth neuronal type 2A2; MFN2 Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2A; hereditary motor and sensory neuropathy IIA2; CMT2A2; Charcot-Marie-Tooth neuropathy type 2A2; HMSN IIA2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
Disease Hierarchy
DISR30O9: Charcot-Marie-Tooth disease type 2
DIS8WD1Q: Charcot-Marie-Tooth disease type 2A2
Disease Identifiers
MONDO ID
MONDO_0012231
UMLS CUI
C4721887
OMIM ID
609260
MedGen ID
1648317
Orphanet ID
99947
SNOMED CT ID
764850002

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
MFN2 OTPYN8A3 Strong Autosomal dominant [1]
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References

1 Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology. 2005 Jul 26;65(2):197-204. doi: 10.1212/01.wnl.0000168898.76071.70.