Details of Disease

General Information of Disease (ID: DISGYWZT)

Disease Name Charcot-Marie-Tooth disease type 1D
Synonyms
Charcot-Marie-Tooth neuropathy, type 1D; Charcot Marie Tooth disease type 1D; CMT 1D; Charcot-Marie-Tooth disease, demyelinating, type 1D; HMSN 1D; Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2; Charcot-Marie-Tooth neuropathy type 1D; EGR2 Charcot-Marie-Tooth disease type 1; HMSN1D; CMT1D; hereditary motor and sensory neuropathy 1D; HMSN ID; Charcot-Marie-Tooth disease, type 1D
Definition
A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
Disease Hierarchy
DIS56F9A: Charcot-Marie-Tooth disease type 1
DISGYWZT: Charcot-Marie-Tooth disease type 1D
Disease Identifiers
MONDO ID
MONDO_0011890
MESH ID
C537985
UMLS CUI
C1843247
OMIM ID
607678
MedGen ID
334709
Orphanet ID
101084
SNOMED CT ID
719979008

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
EGR2 OTAVQ78J Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.