| H00776 | |
| H number | H00776 |
| Name | Congenital motor nystagmus (CMN); Idiopathic congenital nystagmus (ICN) |
| Description | Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143. |
| Category | Nervous system disease |
| Network | - |
| Gene | (NYS1) FRMD7 [HSA:90167] [KO:K23971] (NYS6) GPR143 [HSA:4935] [KO:K08470] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C84.1 ICD-10: H55 MeSH: C580539 OMIM: 310700 300814 |
| Reference | PMID:17397053 AUTHORS Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL TITLE Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. JOURNAL Hum Mutat 28:525 (2007) DOI:10.1002/humu.9492 PMID:22065086 AUTHORS Xiao X, Li S, Guo X, Zhang Q TITLE A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. JOURNAL Hum Genet 131:697-702 (2012) DOI:10.1007/s00439-011-1113-7 PMID:21423867 AUTHORS Hu J, Liang D, Xue J, Liu J, Wu L TITLE A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. JOURNAL Mol Vis 17:715-22 (2011) |