Details of Disease | DrugMAP

General Information of Disease (ID: DISA3DZK)

Disease Name	Charcot-marie-tooth disease, axonal, type 2DD
Synonyms	Charcot-Marie-tooth disease, axonal, type 2DD; CMT2DD; Charcot-Marie-Tooth neuropathy, type 2Dd
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3HIWD: Autosomal dominant disease DISA3DZK: Charcot-marie-tooth disease, axonal, type 2DD
Disease Identifiers	MONDO ID MONDO_0054833 UMLS CUI C4747974 OMIM ID 618036 MedGen ID 1648475 Orphanet ID 521414 SNOMED CT ID 1187620007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP1A1	TTWK8D0	Strong	Autosomal dominant	[1]
ATP1A1	TTWK8D0	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A1	OTCJ458Q	Strong	Autosomal dominant	[1]
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References

1	Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.