MCID: DFN256
MIFTS: 25

Deafness and Myopia

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

Aliases & Classifications for Deafness and Myopia

MalaCards integrated aliases for Deafness and Myopia:

Name: Deafness and Myopia 53 24 71 28 69
High Myopia-Sensorineural Deafness Syndrome 49 24 55
Deafness and Myopia Syndrome 23 49 24
Dfnmyp 53 24 71
High Myopia and Sensorineural Deafness 24
Deafness, Cochlear, Plus 24
Myopia and Deafness 24

Characteristics:

Orphanet epidemiological data:

55
high myopia-sensorineural deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
deafness and myopia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 221200
Orphanet 55 ORPHA363396
ICD10 via Orphanet 33 H90.5
MeSH 41 D006319
UMLS 69 C3806275

Summaries for Deafness and Myopia

NIH Rare Diseases : 49 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 of femoral head, myopia, and deafness and epiphyseal dysplasia, multiple, with myopia and conductive deafness, and has symptoms including intellectual disability, proteinuria and myopia. An important gene associated with Deafness and Myopia is SLITRK6 (SLIT And NTRK Like Family Member 6). Affiliated tissues include brain and eye.

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

Genetics Home Reference : 24 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).

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:

# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia of femoral head, myopia, and deafness 12.0
2 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.1
3 branchiootic syndrome 1 9.8
4 myopia 9.8

Symptoms & Phenotypes for Deafness and Myopia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, prelingual sensorineural, moderate to severe
symmetric deterioration of hearing loss and speech reception with age
severe to profound hearing impairment by early adulthood
absent distortion product otoacoustic emissions (oaes)
absent ipsilateral middle ear muscle reflexes (in older patients)
more
Head And Neck Eyes:
high myopia


Clinical features from OMIM:

221200

Human phenotypes related to Deafness and Myopia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 proteinuria 31 HP:0000093
3 myopia 31 HP:0000545
4 hematuria 31 HP:0000790
5 conductive hearing impairment 31 HP:0000405
6 high myopia 31 HP:0011003

Drugs & Therapeutics for Deafness and Myopia

Search Clinical Trials , NIH Clinical Center for Deafness and Myopia

Genetic Tests for Deafness and Myopia

Genetic tests related to Deafness and Myopia:

# Genetic test Affiliating Genes
1 Deafness and Myopia 28 SLITRK6

Anatomical Context for Deafness and Myopia

MalaCards organs/tissues related to Deafness and Myopia:

38
Brain, Eye

Publications for Deafness and Myopia

Articles related to Deafness and Myopia:

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

Variations for Deafness and Myopia

ClinVar genetic disease variations for Deafness and Myopia:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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