KEGG   DISEASE: Deafness and myopia
Entry
H02355                      Disease                                
Name
Deafness and myopia
Description
Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02355  Deafness and myopia
Gene
SLITRK6 [HSA:84189] [KO:K25837]
Other DBs
ICD-11: LD2H.Y
MeSH: D054062
OMIM: 221200
Reference
PMID:23543054
  Authors
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH
  Title
SLITRK6 mutations cause myopia and deafness in humans and mice.
  Journal
J Clin Invest 123:2094-102 (2013)
DOI:10.1172/JCI65853
Reference
PMID:21298075
  Authors
Matsumoto Y, Katayama K, Okamoto T, Yamada K, Takashima N, Nagao S, Aruga J
  Title
Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.
  Journal
PLoS One 6:e16497 (2011)
DOI:10.1371/journal.pone.0016497
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