Details of Disease

General Information of Disease (ID: DISY4RUB)

Disease Name Charcot-Marie-Tooth disease axonal type 2X
Synonyms
autosomal recessive Charcot Marie Tooth disease type 2X; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X; Charcot-Marie-Tooth neuropathy, type 2X; autosomal recessive Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth disease, axonal, type 2X; autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; SPG11 Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, axonal, type 2x; CMT2X; Charcot-Marie-Tooth neuropathy type 2X; autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation; ARCMT2X; Charcot-Marie-Tooth disease caused by mutation in SPG11
Definition Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.
Disease Hierarchy
DISR30O9: Charcot-Marie-Tooth disease type 2
DIS3BT2L: Charcot marie tooth disease
DISY4RUB: Charcot-Marie-Tooth disease axonal type 2X
Disease Identifiers
MONDO ID
MONDO_0014726
UMLS CUI
C5569024
OMIM ID
616668
MedGen ID
1800447
Orphanet ID
466775
SNOMED CT ID
1187563003

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
SPG11 OTZ7LJX4 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.