Charcot-Marie-tooth disease type 1J

Term ID

DOID:0070835

Synonyms

• CMT1J

Definition

A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. This disease is progressive but highly variable in both age of onset, ranging from early childhood to mid-adulthood, and severity. https://pubmed.ncbi.nlm.nih.gov/32949214/

References

• MIM:620111
• ORDO:730332
• UMLS_CUI:C5774249

Ontology

Human Disease   ( DOID:0070835 )