Details of Disease | DrugMAP

General Information of Disease (ID: DIS17IIR)

Disease Name	Giant axonal neuropathy
Disease Class	8C2Y: Giant axonal neuropathy
Definition	A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.\|See genetic heterogeneity of OMIM 256850.
Disease Hierarchy	DIS5S2BC: Axonal neuropathy DISSYRHC: Hereditary peripheral neuropathy DIS17IIR: Giant axonal neuropathy
ICD Code	ICD-11 ICD-11: 8C2Y
Disease Identifiers	MONDO ID MONDO_0000128 MESH ID D056768 UMLS CUI C5200933 MedGen ID 1684765 SNOMED CT ID 128207002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TSHA-120	DMLVSVG	Phase 1/2	Gene therapy	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

References

1	Clinical pipeline report, company report or official report of Taysha Gene Therapies