Details of Disease | DrugMAP

General Information of Disease (ID: DISG6HNS)

Disease Name	High myopia-sensorineural deafness syndrome
Synonyms	deafness and myopia syndrome; DFNMYP; deafness and myopia; high myopia-sensorineural deafness syndrome
Definition	High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISG6HNS: High myopia-sensorineural deafness syndrome
Disease Identifiers	MONDO ID MONDO_0009082 UMLS CUI C3806275 OMIM ID 221200 MedGen ID 812605 Orphanet ID 363396

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLITRK6	TTTVEKI	Strong	Genetic Variation	[1]
SLITRK6	TTTVEKI	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLITRK6	OTLNWI5G	Definitive	Autosomal recessive	[2]
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References

1	A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.Gene. 2018 Jun 15;659:89-92. doi: 10.1016/j.gene.2018.03.042. Epub 2018 Mar 15.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.