Hereditary motor and sensory neuropathy, type IIC, HMSN2C

Disease ID:428
Name:Hereditary motor and sensory neuropathy, type IIC, HMSN2C
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Autosomal dominant Charcot-Marie-Tooth disease type 2C | Charcot-Marie-Tooth disease type 2
Database Links
Disease Ontology: DOID:0050539
OMIM: 606071
Orphanet: ORPHA99937


Mutations:  TRPV4 is associated with 4 mutation. Click here for details


No ligand related data available for Hereditary motor and sensory neuropathy, type IIC, HMSN2C


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1. Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B et al.. (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat. Genet., 42 (2): 160-4. [PMID:20037588]

2. Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N et al.. (2010) Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet., 42 (2): 165-9. [PMID:20037587]

3. Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH et al.. (2010) Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat. Genet., 42 (2): 170-4. [PMID:20037586]