Details of Disease | DrugMAP

General Information of Disease (ID: DISM66KB)

Disease Name	Charcot-Marie-Tooth disease axonal type 2Q
Synonyms	Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth disease, axonal, type 2Q; Charcot-Marie-Tooth neuropathy, type 2Q; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; DHTKD1 Charcot-Marie-Tooth disease; Charcot-Marie-Tooth neuropathy type 2Q; Charcot-Marie-Tooth disease caused by mutation in DHTKD1; CMT2Q; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISM66KB: Charcot-Marie-Tooth disease axonal type 2Q
Disease Identifiers	MONDO ID MONDO_0014012 UMLS CUI C3554366 OMIM ID 615025 MedGen ID 767280 Orphanet ID 329258 SNOMED CT ID 773393001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAAS	OTJT9T23	moderate	Biomarker	[1]
DHTKD1	OTDQLSNT	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.Mol Cell Biol. 2018 Jun 14;38(13):e00085-18. doi: 10.1128/MCB.00085-18. Print 2018 Jul 1.
2	A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8.