Details of Disease | DrugMAP

General Information of Disease (ID: DISJ0WG6)

Disease Name	Charcot-Marie-Tooth disease recessive intermediate D
Synonyms	Charcot-Marie-Tooth disease, recessive intermediate D; Charcot-Marie-Tooth disease recessive intermediate type D; CMTRID; Charcot-Marie-Tooth disease, recessive Intermediate type D; autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D; COX6A1 Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease caused by mutation in COX6A1
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DIS468CE: Autosomal recessive intermediate Charcot-Marie-Tooth disease DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISJ0WG6: Charcot-Marie-Tooth disease recessive intermediate D
Disease Identifiers	MONDO ID MONDO_0014467 UMLS CUI C5569027 OMIM ID 616039 MedGen ID 1800450 Orphanet ID 435998 SNOMED CT ID 1187567002

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
COX6A1	OT77MV8G	Strong	Autosomal recessive	[1]
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References

1	Nephropathy and renal colic in patients treated with indinavir, ritonavir plus indinavir or ritonavir plus saquinavir. AIDS. 1999 Oct 22;13(15):2173-4. doi: 10.1097/00002030-199910220-00025.