Charcot-marie-tooth Disease Type 2c malady

NIH Rare Diseases: Charcot-Marie-Tooth disease (CMT) is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. In CMT type 2 (CMT2), the motor system is more prominently involved than the sensory system, although both are involved. Individuals with this condition typically have slowly progressive weakness and atrophy of distal muscles in the feet and/or hands usually associated with depressed tendon reflexes and mild or no sensory loss. There is significant clinical overlap with CMT1. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.   Charcot-Marie-Tooth disease type 2C (CMT2C) is a very rare form of CMT. Individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with CMT. Mild sensory loss has also been noted in some individuals. CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.³⁰

MalaCards: Charcot-marie-tooth Disease Type 2c, also known as charcot-marie-tooth disease, axonal, type 2c, is related to scapuloperoneal spinal muscular atrophy. An important gene associated with Charcot-marie-tooth Disease Type 2c is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

charcot-marie-tooth disease type 2c 30 charcot-marie-tooth disease, axonal, type 2c 30 hereditary motor and sensory neuropathy 2 c 30 charcot marie tooth disease type 2c 30

charcot-marie-tooth disease 43 hmsn 2 c 30 cmt 2c 30

Disease types for charcot-marie-tooth disease family:

charcot-marie-tooth disease type 2	charcot-marie-tooth disease type 1
charcot-marie-tooth disease type 4	charcot-marie-tooth disease type 3
charcot-marie-tooth disease type x	charcot-marie-tooth disease type 1a
charcot-marie-tooth disease type 1b	charcot-marie-tooth disease type 1c
charcot-marie-tooth disease type 1d	charcot-marie-tooth disease type 1e
charcot-marie-tooth disease type 1f	charcot-marie-tooth disease type 2a
charcot-marie-tooth disease type 2b	charcot-marie-tooth disease type 2b1
charcot-marie-tooth disease type 2b2	charcot-marie-tooth disease type 2c
charcot-marie-tooth disease type 2d	charcot-marie-tooth disease type 2e
charcot-marie-tooth disease type 2f	charcot-marie-tooth disease type 2g
charcot-marie-tooth disease type 2h	charcot-marie-tooth disease type 2i
charcot-marie-tooth disease type 2j	charcot-marie-tooth disease type 2k
charcot-marie-tooth disease type 4b1	charcot-marie-tooth disease type 4b2
charcot-marie-tooth disease type 4e	charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2	charcot-marie-tooth disease, type 4f

Diseases related to charcot-marie-tooth disease type 2c by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	scapuloperoneal spinal muscular atrophy	5.8

Approved drugs:

Drug clinical trials:

Articles related to charcot-marie-tooth disease type 2c:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (20037586)	LandourAc G.... Sumner C.J.	2010	TRPV4

Genes related to charcot-marie-tooth disease type 2c according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Publications, Disorders