MCID: DFN256
MIFTS: 26

Deafness and Myopia

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases

Aliases & Classifications for Deafness and Myopia

MalaCards integrated aliases for Deafness and Myopia:

Name: Deafness and Myopia 54 24 25 71 29 69
High Myopia-Sensorineural Deafness Syndrome 50 25 56
Deafness and Myopia Syndrome 23 50 25
Dfnmyp 24 25 71
High Myopia and Sensorineural Deafness 25
Deafness, Cochlear, Plus 25
Myopia and Deafness 25

Characteristics:

Orphanet epidemiological data:

56
high myopia-sensorineural deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
deafness and myopia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Deafness and Myopia

NIH Rare Diseases : 50 deafness and myopia syndrome is rare condition that affects both hearing and vision. beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. deafness and myopia syndrome is caused by changes (mutations) in the slitrk6 gene and is inherited in an autosomal recessive manner. treatment aims to improve hearing loss and correct myopia. cochlear implantation may be an option for some affected people. last updated: 12/1/2015

MalaCards based summary : Deafness and Myopia, also known as high myopia-sensorineural deafness syndrome, is related to epiphyseal dysplasia, multiple, with myopia and deafness and myopia, and has symptoms including myopia, hematuria and proteinuria. An important gene associated with Deafness and Myopia is SLITRK6 (SLIT And NTRK Like Family Member 6). Affiliated tissues include brain and eye.

Genetics Home Reference : 25 Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).

UniProtKB/Swiss-Prot : 71 Deafness and myopia: An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.

Description from OMIM: 221200
GeneReviews: NBK269029

Related Diseases for Deafness and Myopia

Diseases related to Deafness and Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with myopia and deafness 11.9
2 myopia 9.7

Symptoms & Phenotypes for Deafness and Myopia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
high myopia

Head And Neck- Ears:
absence of vestibular evoked myogenic potentials (rare)
no reproducible waves i, iii, or v at high intensities
absent cochlear microphonic (in older patients)
bilateral dys-synchronized auditory brainstem responses
absent ipsilateral middle ear muscle reflexes (in older patients)
more

Clinical features from OMIM:

221200

Human phenotypes related to Deafness and Myopia:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 hematuria 32 HP:0000790
3 proteinuria 32 HP:0000093
4 intellectual disability 32 HP:0001249
5 severe myopia 32 HP:0011003
6 conductive hearing impairment 32 HP:0000405

Drugs & Therapeutics for Deafness and Myopia

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Deafness and Myopia

Genetic Tests for Deafness and Myopia

Genetic tests related to Deafness and Myopia:

id Genetic test Affiliating Genes
1 Deafness and Myopia 29 24 SLITRK6

Anatomical Context for Deafness and Myopia

MalaCards organs/tissues related to Deafness and Myopia:

39
Brain, Eye

Publications for Deafness and Myopia

Articles related to Deafness and Myopia:

id Title Authors Year
1
Deafness and Myopia Syndrome ( 25590127 )
1993

Variations for Deafness and Myopia

ClinVar genetic disease variations for Deafness and Myopia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLITRK6 NM_032229.2(SLITRK6): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs587777069 GRCh37 Chromosome 13, 86369404: 86369404
2 SLITRK6 NM_032229.2(SLITRK6): c.890C> A (p.Ser297Ter) single nucleotide variant Pathogenic rs587777070 GRCh37 Chromosome 13, 86369754: 86369754
3 SLITRK6 NM_032229.2(SLITRK6): c.541C> T (p.Arg181Ter) single nucleotide variant Pathogenic rs587777071 GRCh37 Chromosome 13, 86370103: 86370103

Expression for Deafness and Myopia

Search GEO for disease gene expression data for Deafness and Myopia.

Pathways for Deafness and Myopia

GO Terms for Deafness and Myopia

Sources for Deafness and Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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